docIstraživački izveštaj o učestalostima i uzrocima fetalnih malformacija
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Istraživački izveštaj o učestalostima i uzrocima fetalnih malformacija
EVROPSKA UNIJA Strukturni fondovi 2007-2013 Opština Temišvar IPA Program prekogranične saradnje Rumunija – Republika Srbija Mere prioriteta: 1 Ekonomski i društveni razvoj Mera: 1.1 Podrška lokalnoj/regionalnoj društveno-ekonomskoj infrastrukturi Za budućnost naše dece! Projekat: „Razvijanje regionalnog prekograničnog sistema dijagnostičkih centara za prenatalnu dijagnostiku fetalnih malformacija na području Temišvara i Vršca” For the future of our Children! Project: ”The development of a regional cross-border system of excellency medical centres specialised in the prenatal diagnosis of fetal malformations in the Timisoara-Vrsac area” Akronim: PRENATAL DIAGNOSIS NETWORK, Šifra projekta: MIS - ETC " 1347 " Strukturni fondovi 2007-2013 EVROPSKA UNIJA Opština Temišvar Strukturni fondovi 2007-2013 „Razvijanje regionalnog prekograničnog sistema dijagnostičkih centara za prenatalnu dijagnostiku fetalnih malformacija na području Temišvara i Vršca“ „The development of a regional cross-border system of excellency medical centres specialised in the prenatal diagnosis of fetal malformations in the Timisoara-Vrsac area” EKSPERTSKI IZVEŠTAJ EXPERT REPORT Autori/Authors prof. dr Aleksandra Novakov Mikić prof. dr Aleksandar Ljubić Naziv projekta/Project name: „Razvijanje regionalnog prekograničnog sistema dijagnostičkih centara za prenatalnu dijagnostiku fetalnih malformacija na području Temišvara i Vršca“ „The development of a regional cross-border system of excellency medical centres specialised in the prenatal diagnosis of fetal malformations in the Timisoara-Vrsac area” Autori/Authors prof. dr Aleksandra Novakov Mikić prof. dr Aleksandar Ljubić Saradnici na prikupljanju podataka/Data collection assistant’s: Dr Tatjana Vešović, specijalista ginekologije i akušerstva Dr Miljana Roganović, specijalista pedijatrije Dr Violeta Radmanovac Stepanović, subspecijalista fertiliteta i steriliteta Dr Maja Miletić, specijalista ginekologije i akušerstva Dr Vanja Cvetković, specijalista ginekekologije i akušerstva Dr Milena Dašić, specijalista ginekologije i akušerstva Asistent projekta/Project Assistant: dr Jon Sfera Izdavač / Publisher: Opšta bolnica„Vršac”, Vršac ISBN 978-86-918653-0-6 Tiraž/Printed copies: 300 Štampa/Printed by: KAKTUSPRINT Beograd SADRŽAJ UVOD 5 CILJ ISTRAŽIVANJA 15 MATERIJALI I METODOLOGIJA 16 REZULTATI 18 DISKUSIJA 28 ZAKLJUČCI 37 APPENDIX 42 LITERATURA 145 CONTENT INTRODUCTION 75 OBJECTIVES 86 MATERIAL AND METHODOLOGY 87 RESULTS 89 DISCUSSION 99 CONCLUSIONS 37 APPENDIX 113 LITERATURE 145 3 UVOD O projektu Projekat „Development of a cross-border regional system of centers of medical excellence specialized in the prenatal diagnosis of fetal malformations in the Timisoara–Varset area” u okviru IPA Cross Border Cooperation programa finansirala je Evropska unija sa preko 1.7 miliona EUR. U projektu koji je implementiran kroz partnerstvo Gradskog veća Temišvara, bolnice u Temišvaru i Ginekološko-akušerskog odeljenja Opšte bolnice Vršac, planirano je poboljšanje infrastrukture zdravstvenih usluga u pograničnom području Rumunije i Srbije, te povećanje nivoa zdravstvenih usluga u regionu. U Vršcu, Ginekološko-akušersko odeljenje Opšte bolnice biće modernizovano izgradnjom operacione sale, modernizacijom ambulanti i nabavkom savremene opreme. U okviru projekta podići će se kvalitet zdravstvene zaštite populacije koja se nalazi u pograničnom regionu, podići nivo usluga i znanja lekara koji se bave prenatalnom dijagnostikom kongenitalnih anomalija, radiće se na njihovoj edukaciji na svim nivoima prenatalne dijagnostike i skrininga – više od 60 lekara obuhvaćeno je obukom iz ovog polja, a konačni rezultat je i ova publikacija o dostupnim podacima o incidenci i vrsti kongenitalnih anomalija u regionu Južnog Banata, kao i pograničnog regiona Temišvar - Vršac. Više od 800 žena imaće korist od specijalizovane medicinske zaštite kroz organizovanje centara za prenatalnu dijagnostiku, a bar 5000 žena biće informisano o faktorima rizika koji mogu da utiču na razvoj kongenitalnih anomalija. Sem ekonomskih i društvenih benefita koje su direktna posledica implementacije projekta, lekari specijalisti koji učestvuju u ovom projektu imaće uticaj i na budućnost novih generacija. Pregled najčešćih kongenitalnih anomalija Briga za decu počinje pre njihovog rođenja. Strah od pojave anomalija ploda, prisutan kod svake trudnice, nije bez racionalne osnove. Kongentalne anomalije se javljaju kod 3 do 4% novorođene dece, a značajno su učestalije kod spontanih pobačaja i interuterine smrti ploda. Polovina ovih anomalija je takve prirode da dovodi do smrti ili bitno remeti život po rođenju, zbog čega je tačno i pravovremeno otkrivanje i lečenje kongenitalnih anomalija od velikog značaja kako za pojedinca, tako i za društvo. Napredak fetalne medicine, do koga je došlo u najvećoj meri uvođenjem ultrazvučne tehnologije poslednjih decenija, nametnuo je nove zahteve onima koji brinu o zdravlju fetusa i majki. Brojna saznanja o etiologiji i patofiziologiji kongenitalnih anomalija, kao i tehnološki napredak, doveli su do primene novih metoda u dijagnostici i terapiji urođenih poremećaja ploda. 5 Specifičnost primene ovih metoda zahteva multidisciplinarnost u dijagnostici i terapiji. Primena novih metoda zahteva nabavku nove tehnologije, kao i edukaciju za njenu primenu. Anomalije centralnog nervnog sistema Malformacije centralnog nervnog sistema (CNS) spadaju u najteže i najčešće kongenitalne poremećaje, sa prevalencijom od 1/100 – 1/500 novorođenčadi. Kod ovih malformacija značajno su češći spontani pobačaji, tako da je prevalencija u ranoj trudnoći višestruko veća. Ventrikulomegalija označava uvećanje moždanih komora bez obzira na stepen i etiologiju tog uvećanja. Hidrocefalus je termin koji označava teži stepen ventrikulomegalije i ukazuje na opstruktivnu etiologiju. Može se javiti izolovano (borderline ventrikulomegalija, stenoza akveduktusa cerebri s. Sylvii), ili u okviru drugih malformacija CNS-a i defekata neuralne cevi – holoprosencefalije, lisencefalije, Dandy-Walker kompleksa, arahnoidalne ciste, agenezije korpusa kalozuma, intrakranijalne hemoragije, porencefalije, vaskularnih malformacija, šizencefalije, kefalokele, mikrocefalije, spine bifide i dr. Ventrikulomegalija može biti udružena sa malformacijama na drugim organima i sistemima, često u okviru sindroma – hromozomskih aberacija, kongenitalnih infekcija. Holoprozencefalija predstavlja genetski i fenotipski heterogen poremećaj koji se karakteriše poremećajem u razvoju prozencefalona, tj. nepotpunom podelom cerebralnih hemisfera i pripadajućih struktura. Pored malformacija CNS-a skoro uvek su prisutne i malformacije srednjeg dela lica - čela, nosa, orbita, premaksile i gornje usne. Uzrok je zajednički – poremećaj u razvoju prehordijalnog mezenhima, tkiva iz kog se normalno formira srednji deo lica i koje indukuje razvoj prozencefalona u smislu podele na hemifere. Postoje tri tipa holoprozencefalije - alobarna, semilobarna i lobarna. Dandy-Walker sindrom obuhvata uvećanu cisternu magnu, cističnu dilataciju četvrte moždane komore, defekt u vermisu cerebeluma kroz koji cisterna magna komunicira sa četvrtom komorom i ventrikulomegaliju različitog stepena. Sindrom obuhvata Dandy-Walker malformaciju (uvećana zadnja lobanjska jama, kompletna ili delimična agenezija vermisa, visoka pozicija tentorijuma), Dandy-Walker varijantu (varijabilna hipoplazija vermisa sa ili bez uvećanja zadnje lobanjske jame) i mega cisternu magnu (uvećana cisterna magna sa očuvanim integritetom vermisa i četvrte komore). Agenezija korpus kalozuma (ACC) predstavlja potpuno ili delimično odsustvo korpus kalozuma, a može biti kompletna i parcijalna. Ova anomalija udružena je sa različitim stepenom poremećaja drugih intrakranijalnih struktura. 6 Lizencefalija predstavlje niz stanja u kojima je veći deo moždane kore gladak, bez nabora. Uz agiriju, ova stanja mogu podrazumevati i smanjenje broja nabora kore velikog mozga, tzv. pahigirija. Radi o retkoj anomaliji CNS-a u čijoj osnovi je poremećaj migracije neurona, koji dovodi do značajne redukcije ili odsustva nabora moždane kore tj. girusa. Šizencefalija je kongenitalni poremećaj koji se karakteriše pojavom rascepa celom dubinom moždanog omotača između subarahnoidalnog prostora i lateralnih komora. Rascepi mogu biti jednostrani, ili, što je češći slučaj, obostrani, simetrični ili asimetricni. Karakteristična je prepokrivneost racepa sivom moždanom masom. Arahnoidalne ciste nastaju nakupljanjem tečnosti slične cerebrospinalnom likvoru izmedju moždanih ovojnica. Mogu biti lokalizovane u subarahnoidalnom prostoru ma gde u lobanji ili kičmenom kanalu. Veoma su retke i čine oko 1% svih patoloških nalaza na mozgu. Češće su primarne (kongenitalne), za koje se smatra da su nastale kao posledica nepravilnog razvoja leptomeningea i kod kojih ne postoji slobodna komunikacija sa subarahnoidalnim prostorom. Ređe su sekundarne (stečene), koje nastaju kao posledica hemoragije, traume ili infekcije i koje najčešće imaju komunikaciju sa subarahnoidalnim prostorom. Ciste horoidnog pleksusa predstavljaju ciste smeštene u horoidnim pleksusima bočnih komora. Obično su veće od 2 mm u prečniku. Najčešće su benigan i tranzitoran nalaz. Nalaze se kod oko 2% fetusa u 20. nedelji gestacije, ali se gube do 26.nedelje gestacije u više od 90% slučajeva. Intrakranijalna hemoragija (ICH) podrazumeva krvarenje na bilo kom mestu unutar lobanje, a najčešće nastaje postnatalno kod preterminske novorođenčadi, mada može nastati i antenatalno, obično u trećem, a izuzetno i u drugom trimestru. Subduralni hematomi se manifestuju kao ehogene ili mešovite senke neposredno ispod kosti lobanje, koje izazivaju pomeranje i distorziju moždanog tkiva. Kod subduralnog hematoma, kao i IVH trećeg i četvrtog stepena doplerom se registruju povišene vrednosti pulsatilnog indeksa u arteriji cerebri mediji, što je posledica povećanog intrakranijalnog pritiska. Porencefalija je termin koji se odnosi na veće defekte u moždanom tkivu koji komuniciraju sa komornim sistemom. Njihova veličina se povećava u pravcu od komore prema subarhnoidalnom prostoru. Ove šupljine su najčešće jednostrane i obložene belom masom. Porencefalija, za razliku od šizencefalije, nije migraciona anomalija. Hidranencefalija predstavlja potpuni nedostatak hemisfera mozga i potpuni ili delimični nedostatak falksa cerebri. Unutar normalno formiranih kostiju lobanje nalazi se meningealna kesa ispunjena likvorom, u koju prominiraju moždano stablo i bazalne ganglije. Njena etiologija se obično dovodi u vezu sa ishemijom moždanog tkiva kao posledicom okluzije karotidnih arterija. 7 Mikrocefalija se prevodi kao „mala glava“. Ona se može ispoljiti u različitim patološkim entitetima u kojima je zahvaćen veliki mozak (holoprozencefalija, lizencefalija, porencefalija, cefalocela dr). Ukoliko se javlja izolovano kao zaseban entitet smatra se posledicom poremećaja u proliferaciji nervnih ćelija. Poremećaj je najviše izražen u čeonom režnju. Aneurizma Galenove vene je arteriovenska malformacija CNS-a. Ređe je prisutna jedna, a češće više anomaličnih aferentnih arterija koje potiču iz vertebrobazilarnog ili karatotidnog sistema. One se preko proširene Galenove vene dreniraju u transverzalni sinus i druge velike venske sinuse. Aneurizma Galenove vene je locirana iza talamusa u sopstvenoj subarahnoidalnoj cisterni. Prevalencija je nepoznata. Anomalije grudnog koša Dijafragmalna hernija predstavlja hernijaciju sadržaja trbušne duplje u grudni koš, kroz defekt u dijafragmi. Sam defekt na dijafragmi postoji već od prvog trimestra, ali do hernijacije u grudni koš u oko polovini slučajeva ne dolazi do 24. nedelje gestacije, što može otežavati ranu detekciju ovog poremećaja. Incidenca dijaframalne hernije kod živorodjenih je oko 1/2500-4000. Cistična adenomatoidna malformacija (CAM) pluća je razvojna anomalija koja je posledica prevelikog rasta terminalnih respiratornih bronhiola. Ovo stanje može biti obostrano ili jednostrano, a može zahvatati celo plućno krilo ili samo jedan njegov deo. Pleuralni izliv predstavlja nakupinu tečnosti u pleuralnom prostoru i može biti deo neimunog ili imunog fetalnog hidropsa, strukturalne fetalne anomalije i genetskog sindroma ili, redje, izolovani nalaz. Incidenca izolovanog izliva je 1 u 10-15 000 trudnoća. Mogući uzrok ovog poremećaja može biti kongenitalni hilotoraks, anemija, hromozomopatija, virusna infekcija, anomalije pluća, gastrointestinalnog trakta, srca, neoplazme, metabolički poremećaji, anomalije posteljice i pupčanika, ali se neretko desi da i pored svih sprovedenih ispitivanja nikada ne dodje do definisanja uzroka. Sekvestracija pluća je razvojna anomalija kod koje je jedan segment nefunkcionalnog bronhopulmonalnog tkiva izolovan od normalnog plućnog tkiva. Ovaj deo obično ne komunicira sa disajnim putevima, a snabdeva se krvlju iz sistemske cirkulacije a ne iz plućne arterije. Sekvestrirano plućno tkivo može se nalaziti unutar plućnog tkiva, kada ga pokriva pleura (intralobarna sekvestracija) ili može imati svoju sopstvenu pleuru (ekstralobarna sekvestracija, koja se nalazi u oko četvrtini svih slučajeva). Bronhogene ciste su retke kongenitalne anomalije kod su rezultat patološkog razvoja traheobronhijalnog stabla, obložene su respiratornim cilindričnim epitelom koji luči mukus i mogu da njime budu ispunjene. Mogu biti različitih veličina. 8 Anomalije neuralne cevi Akranija predstavlja nedostatak koštanog svoda lobanje sa relativno normalnom količinom moždanog tkiva koje je nepravilno razvijeno. Anencefaliju karakteriše pored odsustva svoda lobanje i nedostatak moždanih hemisfera, koje su zamenjene masom vaskularnih kanala (area cerbrovasculosa). Anencefalija je uz spinu bifidu najčešći defekt nervne cevi. Učestalost varira u pojedinim delovima sveta, najveća je kod naroda keltskog porekla, a približno iznosi 1/1000 živorođenih. Češća je kod ženske nego kod muške dece u odnosu 4 prema 1. Anencefalija se može naći u sklopu Meckel-Gruber sindroma kada je rizik ponovnog javljanja 25%. Cefalocele predstavljaju hernijaciju intrakranijalnih struktura kroz medijalni defekt na lobanji. Prevalencija cefalocele iznosi 2/10 000. Cefalokele se uobičajeno razlikuju prema sadržaju hernije i lokalizaciji koštanog defekta. Zavisno od toga da li sadrže samo meninge, moždano tkivo i/ili lateralne ventrikule razlikuju se: meningocele, encephalomeningocele i encephalomeningocystocele. Spina bifida predstavlja defekt na kičmenom pršljenu koji doseže do neuralnog kanala. Od svih DNC spina bifida ima najveću prevalenciju - 1/1000. Defekt je najšešće je lokalizovan dorzalno na luku pršljena i to obično u lumbosakralnom ili torakolumbalnom regionu. Mnogo ređe je lokalizovan ventralno na telu pršljena, i to obično na donjim cervikalnim ili gornjim torakalnim pršljenovima. Spina bifida okulta je ređi tip, koji se karakteriše manjim dorzalnim defektom koji je kompletno pokrivenim kožom. Spina bifida aperta je češći tip i javlja se kod 85% slučajeva. Karakteriše se time što neuralni kanal može biti potpuno otvoren ili pokriven samo tankom meningealnom membranom (memingocela / myelomeningocela). Anomalije lica Mikroftalmija (microphtalmia) je smanjenje veličine očne jabučice, a anophthalmia (anophtalmia) odsustvo oka, optičkog nerva, hijazme i trakta. Nanoftalmija (nanophtalmia) predstavlja kompletno formirano oko, manje veličine. Prenatalno je vrlo teško napraviti razliku izmedju anoftalmije i mikroftalmije - prava anoftalmija predstavlja kompletno odsustvo jabučice u orbiti, bilo jednostrano ili obostrano. Proboscis je izraštaj koji stoji na mestu/umesto nosa i gotovo je uvek deo holoprozenkefalije (ciklops, cebokefalija, etmokefalija, srednji rascep). Proboscis se često nadje kod hromozomopatija - trizomije 13 i 18, te kao posledica zračenja. Moguć etiološki faktor je i šećerna bolest majke. Rascep usana i/ili nepca (chelioschisis/cheliopalatognatoschisis) najčešće su kongenitalne anomalije lica koje se vide na rodjenju, a rezultat su nespajanja procesus frontalisa i maksilarisa tokom embriogeneze. Javlja se u oko 1/1000 živorodjenih, dok se izolovani rascep nepca javlja u oko 5/1000 živorodjenih, češće kod dečaka. 9 Ovaj defekt javlja se u preko 100 poznatih sindroma, u oko 60% trizomija 13, 30% triploidije, 15% trizomije 18 i 1% trizomije 21. U slučajevima kada nisu deo sindroma, etiološki su verovatno rezultat multifaktorijalne kombinacije uticaja sredine i genetskih faktora. Mikrognatija je naziv za malu, uvučenu bradu i nespecifičan je nalaz kod mnogih genetskih sindroma i hromozomopatija, od kojih je najčešća trizomija 18 – oko polovine fetusa sa trizomijom 18 imaju prenatalno dijagnostikovanu mikrognatiju, dok se na obdukcionim nalazima mikrognatija vidja u čak 80% slučajeva, što znači da se samo izuzetno izraženi slučajevi dijagnostikuju prenatalno. Na preseku lica za pregled profila brada je uvučena, a na koronalnom preseku brada nije u istoj ravni sa čelom i vrhom nosa. Anomalije prednjeg trbušnog zida Omfalocela predstavlja hernijaciju sadržaja abdominalne duplje u bazu pupčanika. Nastaje zbog izostanka fuzije lateralnih ektomezodermalnih nabora. Sadržaj kilne kese su uvek tanka creva, a varijabilno se nalaze jetra i želudac, slezina, kolon i gonade. Pokrivena je amnioperitonealnom membranom, a umbilikalna vrpca se nalazi na njenom apeksu. Ekstrofija bešike predstavlja anomaliju prednjeg trbušnog zida koja je rezultat defekta kaudalnog nabora prednjeg trbušnog zida. Mali defekt dovodi samo do epispadije, dok veći defekti dovode do eksponiranja zadnjeg zida bešike. Incidenca ekstrofije mokraćne bešike je oko 1 u 25-50.000 živorođenih, (3 puta češće kod dečaka), a kloakalne ekstrofije 1 u 200.000. Kod kloakalne ekstrofije anomalije se nalaze na urinarnom, gastrointestinalnom i genitalnom traktu. Anomalije skeleta Skeletne displazije predstavljaju veliku heterogenu grupu genetski uslovljenih stanja, koje karateriše abnormalni oblik, rast i integritet kosti, sa različitim oblikom nasledjivanja, ispoljavanja, lečenja i prognoze. Ahondrogeneza predstavlja letanu displaziju. Razlikujemo - tip IA letalna ahondrogeneza Houston-Harris – predstavlja 20% svih slučajeva ahondrogeneze, nasleđuje se autozomno recesivno, nepoznat je genski lokus. Predstavlja najtežu formu obolenja a radigrafski se manifestuje lošom osifikacijom kičme i male karlice, što rezultuje mrtvorođenošću ili ranom smrću. Ahondroplazija predstavlja defekt u oblikovanju hrskavice, obuhvata rizomeličnu mikromeliju u asocijaciji sa frontal bossing (frontalnim izbočenjem) i low nasal brige (depresija nosnog grebena). Incidenca iznosi 0.5-1.5/ 10 000 novorodječadi. 10 Artrogripoza predstavlja heterogeni set stanja koji učestvuju u limitaciji pokreta i ankilozi, odnosno predstavlja smanjenu intrauterinu pokretljivosti koja je posledica ili poremećaja nervnog, mišičnog ili vezivnog tkiva ili je infektivnog porekla. Kamptomelična displazija predstavlja kongenitalno obolenje koje se manifestuje razvojem abnormalno krivih dugih kostiju, naročito donjih ekstremiteta, femura i tibije. Osteogenezis imperfekta predstavlja heterogenu grupu genetskih poremećaja, koja se karakteriše: teškom fragilnošću kostiju, abnormalnom osifikacijom i multiplim frakturama. Tanatoforična displazija predstavlja letalni kongenitalni oblik hondrodisplazije kratkih ekstermiteta. Manifestuje se u dva oblika: Tip I – manifestuje se ekstremnom rizomelijom, lučnim dugim kostima, uzan toraks, relativno velikom glavom, normalnom dužinom trupa i odsustvom lobanje oblika deteline. Kičmeni stub karakterišu pljosnati-tanjirasti pršljenovi, kranijum ima kratku bazu, često foramen magnum je manje veličine, čelo prominira, prisutan je hipertelorizam i depresija nosnog grebena. Ruke i noge su normalne veličine ali su prsti kratki. Tip II – manifestuje se kratkim, ravnim dugim kostima i lobanje oblika lista deteline. Anomalije srca Urođene srčane mane (USM) su najčešće urođene anomalije. Javljaju se sa incidencom oko 1%, a čine oko 20% svih urođenih anomalija. Fetalna ehokardiografija je jedina dijagnostička metoda za prenatalnu dijagnostiku USM. Senzitivnost ove metode je veoma visoka i kreće se od 78-93.9%, a specifičnost od 98.6-99.9%. Ventrikularni septalni defekt (VSD) je defekt na pregradi između leve i desne komore i predstavlja najčešću urođenu srčanu manu. Javlja kao izolovana lezija, ili udružena sa ostalim, u sklopu kompleksnih anomalija. Izolovani VSD čini 20-30% svih urođenih srčanih mana, a incidenca je još veća ako se ubroje i defekti u sklopu kompleksnih mana. Atrio-ventrikularni (AV) kanal je složena strukturna mana srca koja nastaje zbog poremećaja u razvoju endokardnih jastučića. Incidenca je 2-7% svih USM. Kompletna forma bolesti podrazumeva anomalju A-V valvula (zajedničku, višezalisnu valvulu), atrijalni septalni defekt (ASD) tipa ostium primum i ventrikularni septalni defekt u ulaznom (inlet) delu interventruikularnog septuma. Parcijalni A-V kanal se karakteriše odvojenim anulusima mitralne i trikuspidne valvule, ASD-om (tip ostium primum) i «rascepom» mitralne valvule. Stenoza arteriae pulmonalis - Incidenca ove anomalije je oko 5-8% svih USM (incidenca je slična i prenatalno). Retko dovodi do srčane insuficijencije fetusa, mada je često praćenja sa promenama u veličini desne komore i desne pretkomore, posebno kada je udružena sa trikuspidnom insuficijencijom. Mana je evolutivna. U 11 toku trudnoće se stenotična plućna valvula može potpuno da zatvori i razvije se pulmonalna atrezija, što je daleko teža anomalija. Koarktacija aorte je USM koja se manifestuje suženjem istmičnog dela aorte. Može biti izolovana, ili udružena sa drugim anomalijama, najčešće stenozom valvule aorte i/ili ventrikularnim septalnim defektom. Veoma je često deo sindroma hipoplazije levog srca. S obzirom da je prenatalna dijagnostika relativno teška, incidenca koarktacije aorte kod fetusa je niža od postnatalne (4% svih USM prenatalno, 8-10% postnatalno). Sindrom hipoplazije levog srca (SHLS) predstavlja spektar urođenih srčanih mana koji se kreće od kritične aortne stenoze sa skoro normalnom veličinom leve komore i mitralne valvule, do najtežih formi sa atrezijom mitralne i aortne valvule, sa nepostojećom ili jako hipoplastičom levom komorom. Predstavlja jednu od najtežih srčanih mana i najčešći je uzrok smrti kod novorođenčadi sa USM. Tetralogija Fallot je kompleksna strukturna anomalija srca u čijoj je osnovi ventrikularni septalni defekt sa anterosuperiornom devijacijom septuma, što uzrokuje suženje izlaznog trakta desne komore i plućne arterije i «jahanje» aorte nad rudimentom septuma. Tetralogija Fallot je najčešća cijanogena USM, čini 10% svih USM (incidenca je slična i prenatalno). Transpozicija velikih krvnih sudova (uobičajena je skraćenica TGA – «transposition of great arteries») je strukturna anomalija ventrikulo-arterijskog spoja, pri čemu je tokom embriogeneze došlo do pogrešnog spajanja desne komore sa aortom i leve komore sa plućnom arterijom. Tumori srca su veoma retki kod fetusa i novorođene dece; 90% svih tumora srca je, po histološkoj građi, benigne prirode, ali mogu biti «maligni» po lokalizaciji, odnosno dovesti do pojave srčane insuficijencije, hidropsa, teške tahiaritmije ili opstrukcije neke od valvula. Kod dece i odraslih incidenca tumora srca je 1:10000 pacijenata. Kod fetusa je ova incidenca mnogo veća (čak i do 0.14%), a zbog lake vizuelizacije tumorske mase tokom rutinskog ultrazvučnog pregleda. Srčana insuficijencija je stanje nedovoljnog minutnog volumena koji izaziva neadekvatnu tkivnu perfuziju, a praćen je porastom venskih pritisaka. Dugo vremena je pojam srčane insuficijencije kod fetusa izjednačavan sa pojmom fetalnog hidropsa. Danas se zna da se srčana insuficijencija može manifestovati bez hidropsa, i obratno, da neimunološki hidrops ploda može postojati bez izražene srčane insufucijencije. Anomalije fetalnog vrata Nuhalna translucenca i skrining hromozomopatija Ciljani pregled nuhalnog dela u prvom trimestru trudnoće ima poseban značaj. On predstavlja deo neinvazivnog skrininga hromozomopatija, pri kome se meri nuhalna translucenca (NT) – ultrazvučni prikaz subkutanog prostora iza fetalnog vrata. Termin 12 translucenca koristimo u prvom trimestru, bez obzira na izgled promene (septirana ili neseptirana) i njenu ograničenost (samo fetalni vrat ili ceo fetus). Tokom drugog i trećeg trimestra trudnoće, patološka akumulacija tečnosti u ovom regionu može se klasifikovati kao nuhalni edem ili cistični higrom. Povećana NT se učestalo sreće kod hromozomopatija, pre svega trizomije 21, zatim Turner-ovog sindroma, trizomije 18, kao i kod brojnih fetalnih anomalija i genetskih sindroma. Pored toga što je povećana debljina nuhalne translucence čest fenotipski nalaz trizomije 21 i drugih hromozomopatija, ona je udružena i sa smrću fetusa i širokim spektrom strukturnih fetalnih anomalija, deformacija, disgeneza i retkih genetskih sindroma. Nuhalni edem predstavlja patološko nakupljanje tečnosti u nuhalnoj regiji, koje se dijagnostikuje u drugom i trećem trimestru trudnoće. Etiološki, nuhalni edem može biti vezan za hromozomopatije, kardiovaskularne i pulmonalne anomalije fetusa, skeletne displazije, kongenitalne infekcije, metaboličke poremećaje. Patofiziološki, najčešće je reč o poremećaju drenaže limfne tečnosti, ali uzrok može biti i kongestija zbog kongenitalne srčane mane, neki hematološki poremećaji i sl. Cistični higrom je najčešća anomalija vrata. Cistični higrom se javlja kod 1 od 200 pobačenih plodova u prvom trimestru, dok se kod terminskih nalazi u 1 od 6000 slučajeva. Najverovatnije nastaje usled defekta u formiranju limfnih sudova. Cistični higromi imaju visoku incidencu hromozomskih poremećaja (72%), anomalija srca i hidropsa. Najčešća hromozomska abnormalnost je Turner-ov sindrom, koji se pojavljuje u 75% slučajeva, dok se trizomija 18 sreće u 5%, a trizomija 21 u 5%. Nešto više od četvrtine fetusa ima normalan kariotip. Glavna anomalija srca koja se nalazi u fetusa sa cističnim higromom je koarktacija aorte i može se naći u do 48% fetusa sa Turner-ovim sindromom. Hidrops fetusa se viđa u do 68% fetusa sa Turner-ovim sindromom. Cefalokele predstavljaju protruziju meninga i/ili moždanog tkiva, kroz defekt na kranijumu i u 80% slučajeva se pojavljuju u okcipitalnom regionu. Abnormalnost je posledica nekompletnog zatvaranja anteriorne neuropore, koja dovodi do defekta srednje linije lobanje, što je udruženo sa hernijacijom meninga (meningocele) ili tkiva mozga (encephalocele) kroz defekt. Opisan je veći broj različitih tipova cefalokela. Meningocela - defekti neuralne cevi su retki na vratu i u literaturi postoji malo objavljenih slučajeva. Iako je znatno ređa od cističnog higroma i cefalokela, cervikalna meningomijelokela se može prezentovati kao posteriorna masa na vratu. Obično je lokalizovana u srednjoj liniji dorzuma vrata i često je cistične strukture. Tipičan izgled je sličan meningomijelokeli drugde na kičmi, sa širenjem posteriornih elemenata kičme, udruženih sa kesom meningomijelokele. Guša - masivno uvećanje tireodeje, može biti udružena sa različitim maternalnim tireoidnim statusom, ali je najčešće uzrokovana lečenjem antitireoidnim lekovima maternalne tireotoksikoze. Antitireoidni agensi mogu lako da prođu placentu i ako se 13 ovo desi tokom perioda razvoja fetalne tireodeje u 10 do 16. nedelji gestacije, može dovesti do fetalnog hipotireoidizma i gušavosti. Anomalije bubrega Renalna ageneza predstavlja izostanak razvitka bubrega, a može biti unilateralna i bilateralna. Bilateralni oblik je obično izolovan i sporadičan, ali može biti i u sklopu hromozomopatije ili genetskog sindroma. Policistični bubrezi predstavlju autosomno recesivno oboljenje koje karakteriše izostanak razvoja normalnog bubrežnog parenhima, umesto koga se nalazi dilatirani tubularni sistem. Ovo stanje može zahvatati i jetru i bubrege, a u teškiim slučajevima, može imati i letalan ishod. Deli se, prema vremenu pojavljivanja, na infantilni, juvenilni i adultn tip. Jetra je češće zahvaćena u tipovima sa kasnijim javljanjem. Multicistični bubrezi predstavljaju kongenitalnu displaziju bubrega koju karakterišu velike nehomogene ciste, rezultat dilatacije tubularnog sistema. Ovaj poremećaj rasta bubrega može se javiti na delu bubrega, na jednom ili oba bubrega, s tim što je najčešća zahvaćenost jednog bubrega. Prevalenca mu je oko 1/1000 - 5000 porodjaja i to je najčešća cistična renalna anomalija kod novorodjenčeta. Multicistični bubrezi su obično sporadični nalaz, ali postoje i podaci da mogu da se jave u pojedinim porodicama, a maternalni dijabetes povećava rizik od pojave ovog oboljenja. Hidronefroza predstavlja dilataciju karlice bubrega urinom – dijagnoza se postavlja kada je anteroposteriorni dijametar bubrežne karlice preko 4 mm pre 27. nedelje gestacije, odnosno preko 7 mm posle 28. nedelje. Ova promena predstavlja najčešće prenatalno detektovanu anomaliju, i javlja se u oko 0,17-2,3% porodjaja. Hidronefroza je najčešće rezultat opstrukcije na nivou ureteropelvičnog spoja, zatim vezikoureteralnog refluksa, a redje ureteralne stenoze i drugih opstrukcija donjeg urinarnog trakta. Opstrukcija na nivou uretero-pelvičnog spoja je češća kod muške dece, dok je ona na nivou uretero-bešičnog spoja češća kod devojčica. Posteriorne uretralne valvule su membranozne strukture u posteriornoj uretri muških fetusa koje kao rezultat imaju opstrukciju urinarnog trakta. Kod ovog poremećaja obično postoji nekompletna ili intermitentna opstrukcija uretre koja kao rezultat ima uvećanu i hipertrofisanu bešiku sa različitim stepenom hidrouretera, oligohidramniona i plućne hipoplazije. U nekim slučajevima može biti pridružen urinarni ascit kao rezultat rupture bešike ili transudacije urina u peritonealnu šupljinu. Ciste jajnika su, u gotovo svim slučajevima, benigni tumori koji mogu spontano da nestanu nakon rodjenja, a retko zahtevaju operativno rešavanje. Incidenca im je oko 1/2500 – 1/3000 trudnoća 14 CILJ ISTRAŽIVANJA Opšti ciljevi istraživanja obuhvatali su: - Formiranje baze podataka o prenatalno i postanatalno dijagnostikovanim anomalijama u regionu Južnog Banata - Obradu podataka prikupljenih u okviru formiranja baze podataka o prenatalno i postanatalno dijagnostikovanim anomalijama u regionu Južnog Banata - Pripremu izveštaja o istraživanju. Specifični ciljevi istraživanja obuhvatili su: - ustanovljavanje incidence anomalija i hromozomopatija u regionu Južnog Banata - dobijanje uvida u glavne faktore rizika za razvoj kongenitalnih anomalija u regiji Južnog Banata - ustanovljavanje prenatalne stope detekcija najčešćih morfoloških anomalija i hromozomopatija - dobijanje uvida u praćenje trudnoće i postnatalne ishode trudnoća sa prenatalno dijagnostikovanim anomalijama i hromozomopatijama - podizanje nivoa svesti o neophodnim akcijama koje za cilj imaju smanjenje rizika za razvoj kongenitalnih anomalija i hromozomopatija 15 MATERIJAL I METODOLOGIJA Istraživačke aktivnosti radjene u cilju davanja izveštaja o učestalosti anomalija i hromozomopatija i najčešćim faktorima rizika za njihov nastanak u Južnom Banatu obuhvatale su: (1) dobijanje relevantnih informacija iz Vršačke bolnice o svim službama zdravstvene zaštite koje se bave zdravljem žena i dece, obuhvatajući i zdravstvenu zaštitu tokom trudnoće i porodjaja, kao i službe za genetska ispitivanja, patohistologiju, sudsku medicinu, privatne ordinacije (2) razvoj obrazaca za registraciju anomalija - individualnih obrazaca za registraciju prenatalno dijagnostikovanih anomalija i hromozomopatija (Appendix 1) - individualnih obrazaca za registraciju postnatalno dijagnostikovanih anomalija i hromozomopatija (Appendix 2) - grupnih obrazaca za registraciju prenatalno dijagnostikovanih anomalija i hromozomopatija (Appendix 3) - grupnih obrazaca za registraciju postnatalno dijagnostikovanih anomalija i hromozomopatija (Appendix 4) (3) analiza podataka iz istorija bolesti/izveštaja trudnoća - kongenitalne anomalije dijagnostikovane prenatalno u državnim ustanovama primarne zdravstvene zaštite (Dom zdravlja) u ispitivanom periodu, - kongenitalne anomalije dijagnostikovane prenatalno u privatnim zdravstvenim ustanovama primarnog nivoa (privatne ginekološke ordinacije i poliklinike) u ispitivanom periodu - kongenitalne anomalije dijagnostikovane prenatalno u državnim ustanovama zdravstvene zaštite skundarnog nivoa (opšta bolnica Vršac i opšta bolnica Pančevo) u ispitivanom periodu - kongenitalne anomalije dijagnostikovane postnatalno u državnim ustanovama zdravstvene zaštite sekundarnog nivoa (opšta bolnica Vršac i Pančevo) u ispitivanom periodu - prenatalno i postnatalno dijagnostikovane hromozomopatije u državnim ustanovama (genetske službe Instituta za zdravstvenu zaštitu dece i omladine u Novom Sadu, Instituta za majku i dete u Beogradu, Ginekološko akušerske klinike „Narodni front u Beogradu, Klinike za ginekologiju i akušerstvo Kliničkog centra Srbije u Beogradu) - prenatalno i postnatalno dijagnostikovane hromozomopatije dijagnostikovane u privatnim centrima za genetska ispitivanja - postnatalno dijagnostikovane hromozomopatije i kongenitalne anomalije u državnim zdravstvenim ustanovama sekundarnog nivoa (opšta bolnica Vršac i Pančevo) 16 - prenatalno dijagnostikovane kongenitalne anomalije i hromozomopatije upućene na tercijerni nivo zdravstvene zaštite u Beograd i Novi Sad (Klinika za ginekologiju i akušerstvo Kliničkog centra Vojvodine, Institut za majku i dete, Klinika za ginekologiju i akušerstvo „Narodni front“, Klinika za ginekologiju i akušerstvo Kliničkog centra Srbije) – tok trudnoće, porodjaja, neonatalna potvrda dijagnoze. - Prenatalno dijagnostikovane anomalije i hromozomopatije dijagnostikovane u regiji Južnog Banata i upućene u tercijerni centar za terminaciju trudnoće u Beogradu i Novom Sadu (4) analiza podataka iz patohistoloških centara i centara sudske medicine nakon terminacije trudnoća sa prenatalno dijagnostikovanim anomalijama i hromozomopatijama u zdravstvenim centrima sekundarnog i tercijernog nivoa (opšta bolnica Vršac i Pančevo, Klinika za ginekologiju i akušerstvo Kliničkog centra Vojvodine, Institut za majku i dete, Klinika za ginekologiju i akušerstvo „Narodni front“, Klinika za ginekologiju i akušerstvo Kliničkog centra Srbije) (5) Nakon dobijanja uvida u dosadašnju praksu dijagnostike i registrovanja podataka o detekciji kongenitalnih anomalija, a na osnovu savremene prakse i literature, napravljen je akcioni plan za smanjenje kako rizika od pojave kongenitalnih anomalija i hromozomopatija, a samim tim i njihove učestalosti, tako i za poboljšanje stope detekcije, čiji su ciljevi obuhvatali i medicinske radnike i opštu populaciju 17 REZULTATI Plan aktivnosti ispunjen je shodno predlogu datom u projektu, a u cilju publikovanja bilingvalnog izveštaja o istraživanju fetalnih anomalija u regionu Južnog Banata – incidence, uzroka i faktora rizika za razvoj kongenitalnih anomalija u regionu Južnog Banata u periodu tri godine – 2010., 2011. i 2012. godine. Obrazovanja baze podataka Istraživačima iz Opšte bolnice Vršac konsultanti su dali uputstva i za tu priliku napravljene individualne i grupne formulare za registraciju kongenitalnih anomalija i hromozomopatija. Prikupljanje podataka počelo je u prvom mesecu implemenacije ugovora, kada je primljena prva grupa podataka i nastavljeno je sve dok nisu pristigli svi traženi podaci. U drugom mesecu implementacije ugovora organizovane su konsultacije izmedju eksperata i istraživača, u cilju postizanja konsenzusa oko akcionog plana, metodoloških radnji i prikupljanja podata. Sve registrovane zdravstvene ustanove u regionu Južnog Banata, kao i u Novom Sadu i Beogradu koje su referentne ustanove za ovaj region, obaveštene su o potrebi davanja podataka o prenatalno i postnatalno registrovanih anomalija, a obuhvatale su kako privatne tako i državne ustanove primarnog, sekundarnog i tercijernog nivoa, uz molbu da se istraživačima odredjenim u projektu omogući pristup dokumentaciji u cilju prikupljanja podataka u posmatranom periodu (2010-2012). Poslate su pismene molbe za omogućavanje pristupa podacima i od većine je dobijeno odobrenje, sem od Klinike za ginekologiju i akušerstvo Kliničkog centra Srbije, čija je uprava odgovorila da ne može da da odobrenje za dobijanje podataka. Tim istraživača koji je imenovala Opšta bolnica je nakon dobijanja odobrenja pretražio dostupnu medicinsku dokumentaciju u ustanovama koje su to odobrile, a ustanove koje su imale mogućnosti poslale su svoje informacije direktno timu. Medicinska dokumentacija pretražena je u Opštoj bolnici Vršac, Opštoj bolnici Pančevo, Ginekološko-akušerskoj klinici „Narodni front“ u Beogradi i Klinici za ginekologiju i akušerstvo Kliničkog centra Vojvodine u Novom Sadu. Prikupljanje podataka završeno je u četvrtom mesecu implementacije ugovora. Tercijerni centri – Ginekološko-akušerska klinika „Narodni front“ u Beogradu i Klinika za ginekologiju i akušerstvo Kliničkog centra u Novom Sadu uključene su jer su tercijerne, referentne ustanove za dijagnostiku anomalija i terminaciju trudnoća nakon dvadeset nedelja gestacije, jer shodno organizaciji zdravstvenog sistema Republike Srbije, zdravstvene ustanove sekundarnog nivoa pacijente upućuju u nadležne ustanove tercijernog nivoa. Prekidi trudnoća nakon dvadeset nedelja gestacije mogu se raditi samo u ustanovama tercijernog nivoa, sa Etičkim odborom koji imenuje Ministarstva zdravlja Republike Srbije, te se anomalije dijagnostikovane u regionu Južnog Banata za potvrdu dijagnoze i dalji tretman trudnoće upućuju u referentne ustanove tercijernog nivoa u Beogradu i Novom Sadu. 18 U, za ovu priliku razvijeni, individualni obrazac za registraciju prenatalno dijagnostikovanih anomalija i hromozomopatija (Appendix 1) upisivani su opšti podaci (Centar/ordinacija, ID broj (MB/ambulantni), ime pacijenta, datum rodjenja, broj trudnoća, broj porodjaja, lična anamneza (oboljenja, terapija, operacije), porodična anamneza, adresa, lični broj JMBG, telefon). Kod prenatalne detekcije navodjeni su sledeći podaci – ultrazvučni nalaz, gestacija kada je anomalija dijagnostikovana, gestacija kada su radjeni prethodni ultrazvučni pregledi, vrsta anomalije (opis), dodatne anomalije I nalazi, kariotip (upisati kariotip bez obzira da li je kariotipizacija uradjena prenatalno ili postnatalno), dodatne pretrage (konsultativni ultrazvučni pregledi, ehokardiografija, MRI, relevatne laboratorijske pretrage (TORCH, Parvo B19, biohemijski skrining u I/II trimestru), ishod trudnoće. Ukoliko je bila terminacija trudnoće, navodjena je gestacija, metod prekida. Ukoliko je bio porodjaj, navodjeno je da li je dete živorodjeno, mrtvorodjeno, gestacija pri porodjaju te modus porodjaja. Opisivane su anomalije vidjene nakon prekida trudnoće/porodjaja, te nalaz na obdukciji. Traženi podaci nisu dobijeni iz privatnih ordinacija i poliklinika, državnih centara za genetiku, privatnih centara za genetiku, centara za patohistologiju i sudsku medicinu. Dobijeni su podaci o prenatalno suspektovanim i dijagnostikovanim anomalijama, kao i postnatalno dijagnostikovanim anomalijama u Opštoj bolnici Vršac, Opštoj bolnici Pančevo, Klinici za ginekologiju i akušerstvo Klinikog centra Vojvodine u Novom Sadu i Ginekološko-akušerske klinike „Narodni front” u Beogradu. Statistička analiza je uradjena ubacivanjem podataka u softverski paket Excell i obradom statističkim programom SPSSv.20. Rezultati Rezultati istraživanja će biti predstavljeni u sledećim poglavljima: 1. Osnovni sociodemografski i zdravstveni pokazatelji analiziranih porođaja 2. Analiza anomalija a. Analiza anomalija otkrivenih prenatalno a. Analiza anomalija otkrivenih postnatalno 3. Analiza anomalija u OB Vršac 4. Analiza anomalija u OB Pančevo 5. Analiza anomalija u Ginekološko – akušerskoj klinici “Narodni front” Beograd 6. Prikaz anomalija po posmatranim godinama: 2010., 2011., 2012. Ukupno je obrađeno 145 registrovanih slučajeva anomalija i to: − 31 anomalija otkrivena prenatalno (21,4 %) 19 − 114 anomalija otktivenih postnatalno (78,6 %). Analizirani podaci su dobijeni iz tri zdravstvene ustanove: − Opšta bolnica Vršac, − Opšta bolnica Pančevo, − Ginekološko-akušerska klinika „Narodni front“ Beograd. Analizirani su podaci prenatalno i postnatalno dijagnostikovanih anomalija za trogodišnji period 2010-2012 koji su dobijeni beleženjem u za potrebe projekta formirane formulare, ispunjavane tokom uvida u raspoloživu medicinsku dokumentaciju navedenih zdravstvenih ustanova. 1. Osnovni sociodemografski podaci a. Starost majki Prosečna starost porođenih žena iznosi 30,36 godina (±5,41). Najmlađa majka ima 17 godina a najstarija 44 godine. Najviše porodilja, njih 50, pripada starosnoj grupi 30-34 godine, potom starosnoj grupi od 25-29 godina (46), njih 23 je u grupi 35-39 godina a najmanje je adolescentkinja (4). Grafikon br. 1. Starost porođenih žena Tabela br. 1. Starost porođenih žena b. Paritet Za više od polovine pacijentkinja (51,7%) ovo je bio prvi porođaj. Drugi porođaj je bio za više od trećine pacijentkinja (32,4%); treći put se porođalo 11% žena, za njih 4 (2,8%) ovo je bio četvrti porođaj a po peti i šesti put se porođala po jedna žena. Tabela br 2. Porođaji Od ukupno 145 porođaja 74% je bilo vaginalnim putem a 26% trudnoća završeno je operativnim putem. Grafikon br. 3. Modus porođaja Vaginalnim putem se porodilo 107 pacijentkinja (74 %) i za većinu njih ovo je bio prvi porođaj (52,33 %). Drugorotki je bilo 33 (30,84 %) a trećerotki 13 (12,15 %). Carkim rezom je porođeno 38 pacijentkinja i za njih 20 (52,63 %) je ovo bio prvi porođaj, drugorotki je je bilo 47 (32,41 %) a trećerotki 16 (11,03%). Jedna četverotka je porođena carskim rezom a tri žene vaginalno, po jedna petorotka i šestorotka su se porodile vaginalno. Tabela br.3. Modus i broj porođaja Broj ukupno dijagnostikovanih anomalija (145) u odnosu na analizirane godine je srazmerno raspoređen i ne beleži značajne varijacije. U 2010. godini otkriveno je 43 anomalija što predstavlja 30 % od ukupnog uzorka.U 2011. godini je zabeležen porast otkrivenih anomalija za 7 % i ukupno iznosi 54 20 anomalije a u 2012. godini lekari su dijagnostikovali 48 anomalija što iznosi 33 % od ukupnog broja analiziranih slučajeva. Grafikon br 4. Broj anomalija u odnosu na posmatrane godine Od ukupno 145 analiziranih anomalija najveći procenat je prijavljen u OB Pančevo, 58,6 %, zatim u Opštoj bolnici Vršac, 38,6 % a najmanji procenat pacijentkinja sa područja Južnobanatskog okruga upućeno je na dalji tretman u Beograd, u GAK „Narodni front“, 2,8%. Grafikon br. 5. Broj analiziranih anomalija u odnosu na zdravstvenu ustanovu Najveći broj dijagnostikovanih anomalija (32) je 2010. godine u OB Pančevo, potom 2012. godine (27). Tokom 2011. godine otkriveno je po 26 anomalija u OB Pančevo i u OB Vršac. Grafikon br. 6. Broj anomalija u odnosu na posmatrane godine 2010-2012. Ukupno 63,4 % otkrivenih anomalija bilo kod novorođenčadi muškog pola a 36,6 % ženskog pola. Grafikon br. 7 . Polna strukutra Tabela br. 4. Pol novorođenčadi u odnosu na zdravstvenu ustanovu Prosečna telesna masa na rođenju kod novorođenčadi sa anomalijama iznosi 3334 gr a prosečna telesna dužina 51,32 cm. Najmanju telesnu dužinu imalo je novorođenče rođeno u 30-oj (1120 gr) gestacijskoj nedelji sa dijagnostikovanom gastrošizom a najveću telesnu masu (4700 gr) imalo je žensko novorođeče kod koga ja otkrivena srčana mana. Najveći procenat (39,31 %) novorođenčadi pripada grupi sa telesnom masom 3000-3500 grama. Tabela br. 5. Telesna masa i dužina novorođenčadi Tabela br. 6. Telesna masa na rođenju Pacijentkinje su se u proseku porodile u 39. gestacijskoj nedelji (±1,42). Najveći procenat pacijentkinja (41,4%) porodilo se u 40-oj nedelji trudnoće. Pre 38. gestacijske nedelje porodilo se 14,5% pacijentkinja. Posle 40. nedelje porodilo se pet pacijentkinja. Grafikon br. 8. Gestacija prilikom porođaja 2. Analiza anomalija Uvidom u raspoloživu medicinsku dokumentaciju medicinskih centra za oblast Južni Banat, ukupno je pronađeno 145 slučajeva anomalija. Od toga je 114 anomalija (78,6%) otkriveno po rođenju a 31 (24,4%) u toku trudnoće. Tabela br. 7. Ukupan broj anomalija Grafikon br. 9. Ukupan broj anomalija 21 Ukupno 56 anomalija je registrovano u OB Vršac (38,62%), 85 anomalija u OB Pančevo (58,62 %) 4 slučaja (2,8%) je upućeno u ustanovu višeg ranga (GAK “Narodni front”). Tabela br. 8. Anomalije po godinama i zdravstvenim ustanovama Tabela br. 9. Anomalije u odnosu na zdravstvene ustanove i vremenu dijagnoze U tabeli br.10 prikazani su slučajevi otkrivenih anomalija u odnosu na posmatrane godine, zdravstvenu ustanovu i godine. Tokom 2011. godine otkriveno je najviše anomalija a pojedinačno posmatrano najviše anomalija otkriveno je 2010. godine u OB Pančevo i to 22,07 % u odnosu na ukupan broj anomalija. Tabela br. 10. Anomalije po vremenu dijagnoze, bolnici i posmatranim godinama Najveći broj otkrivenih anomalija su srčane mane, 49 (34%). Anomalije ekstremiteta su druge po brojnosti (30) i imaju udeo od 21 %. Na trećem mestu je anomalije genito urinarnog trakta (36) sa 25 %. Potom slede anomalije lica (9) sa 6 %, anomalije CNS (5) sa 3 % i glave (3) sa 2 %. Otkrivene su po dve hromozomopatije, multiple anomalije i anomalije gastointestinalnog trakta. Pronađene su po jedna anomalija na: plućima, mozgu i grudnom košu (0,7 %). Grafikon br. 10. Otkrivene anomalije u odnosu na sisteme Tabela br. 11. Otkrivene anomalije u odnosu na sisteme Tabela br. 12. Anomalije po sistemima i godinama U grafikonu br. 11 prikazane su distribucije anomalije po polu i zdravstvenim ustanovama. Srazmeno broju ukupnih anomalija, OB Pančevo beleži najveći broj i kod muškog i kod ženskog pola. Grafikon br. 11. Anomalije po polu i zdravstvenim ustanovama U tabelama br. 13. i 14. dati su prikazi anomalija po vremenu dijagnoze i sistemima. Najveći broj anomalija je otkriven postnatalno. Tabela br. 13. Anomalije po vremenu dijagnoze Tabela br. 14. Prikaz anomalija po sistemima, ustanovama i vremenu dijagnoze U slučajevima otkrivenih anomalija najveći broj novorođenčadi je upućen na dalje preglede kod nadležnih lekara specijalista, troje je umrlo, po sedmoro je upućeno u Institut za najmku i dete i Univerzitetsku dečiju kliniku a dvoje na Institut za neonatologiju. Tabela br 15. Ishodi anomalija Umrli: − 2010, ročno muško novorođenče, iz druge trudnoće, rođeno vaginalnim putem, AS 8/9, TM 3450/53 cm. Dg: vitium cordis cong. Anomalija viđena postnatalno. Novorođenče trasportovano u Institut za majku i dete u Beograd, gde je i umrlo 22 − 2011, žensko novorođenče rođeno u 35-oj gestacijskoj nedelji carskim rezom, AS 3/5, TM 1350/40 cm. Dg Anencephalia. Anomalija viđena postnatalno. Umrlo u bolnici u Vršcu − 2011, žensko novorođenče, rođeno carskim rezom u 30 gestacijskoj nedelji, AS 5/7, TM 1120/37 cm. Anomalija vđena prenatalno, upućena u GAK Narodni front. DG: Gastroshisis. Umrlo u GAK “Narodni front”. Analiza anomalija otkrivenih postnatalno Postanatalno otkrivenih anomalija je bilo 114 (78,6 %). U OB Pančevo je dijagnostikovan 61 slučaj anomalija (53,5 %) a u OB Vršac 53 (46,5 %). Prosečna starost majki iznosi 33,37 godina. Najviše otkrivenih anomalija je bilo u 2012 godini – 37,7 %. Prosečna gestacija je bila 38,96 nedelja (±1,24). Prosečna telesna masa novorođenčadi je iznosila 3335 grama (± 520) a telesna dužina 21,24 (± 3,01). Prosečni broj porođaja u odnosu na pacijentkinje iznsi 1,79 (± 0,79). Većina postnatalnih anomalija je dijagnostikovana u OB Pančevo 53,5 % a 46,5 % je dijagnostikovana u OB Vršac. Ukupno 37,7 % postnatalnih anomalija je otkrivena 2012. godine, 36 % 2011. godine a 26,3 % 2010. godine. Tabela br. 16. Učestalost postnatanih anomalija u odnosu na zdr. ustanovu Tabela br. 17. Postnatalne anomalije po godinama Distribucija postnatalno otkrivenih anomalija po polu je - 76,7 % su kod muškog pola a 33 % kod ženskog pola. Grafikon br. 12. Postnatalne anomalije u odnosu na pol U 71% slučajeva novorođenčad sa anomalijama su rođena vaginalno a 29 % carskim rezom. Grafikon br. 13. Modus porođaja kod postnatalih anomalija Kod 50 % žena ovo je bio prvi porođaj. Drugorotki je bilo 33,3%, trećerotki 10,5 %, četverotka 3,5 %. Po jedna pacijentkinja se porođala peti i šesti put. Tabela br. 19. Partitet postnatalno Apgar skor u 5. minutu kod 50 % novorođenčadi je bio 10. Tabela br. 18. Apgar skor na rođenju postnatalno Telesna masa novorodjenčadi prikazana je u tabeli 20. Tabela br. 20. Telesna masa i dužina novorođenčadi postnatalno U slučajevima kada su anomalije otkrivene postnatalno većina njih (33) su anomalije genitourinarnog trakta, 29 %. Na drugom mestu su anomalije ekstremiteta (29), 25 %, a na trećem srčane mane (28), 25 %. Potom slede anomalije lica (9) sa 8 %, CNS i abdomena (4) sa 3 %. Otkrivena je po jedna anomalija: glave, GITa, grudnog koša, mozga, pluća i po jedna multipla anomalija i hromozomopatija. Grafikon br. 14. Postanatalne anomalije po sistemima 23 Od 114 novorođenčadi sa postanatalno otkrivenim anomalijama kod novorođenčadi, njih 8 je upućeno u ustanovu višeg ranga (4 u Institut za neonatologiju, 4 na Univerzitetsku dečiju kliniku u Beogradu). Dvoje novorođenčadi je preminulo. Analiza anomalija otkrivenih prenatalno Prenatalno otkrivenih anomalija je bilo 31 (21,4 %). U OB Pančevo je dijagnostikovan 24 slučaj anomalija (77,4 %) a u OB Vršac 3 (9,7 %) dok su u GAK “Narodni front” otkrivene 4 anomalije (12,9%). Prosečna starost majki u ovoj grupi iznosi 31,86 godina. Prosečna gestacija prilikom otkrivanja anomalija je bila 38,87 nedelja (±1,97). Prosečna telesna masa novorođenčadi je iznosila 3327 grama (± 587) a telesna dužina 51,48 (± 3,01). Prosečni broj porođaja u odnosu na pacijentkinje iznosi 1,54 (± 0,72). Najviše pranatalno otktivenih anomalija je u OB Pančevo 24 (77,4 %), zatim GAK “Narodni front” 4 (12,9%), te u OB Vršac 3 (9,7%). Tabela br. 21. Učestalost postnatanih anomalija u odnosu na zdr. ustanovu Identičan broj prenatalno dijagnostikovah anomalija je u 2010-oj i 2011-oj godini (41,9 %) dok se u 2012. beleži pad na 16,1 %. Tabela br. 22. Prenatalne anomalije po godinama Raspodela po polu kod prenatalnih anomalija je jednako raspoređena: 16 kod muškog pola a 15 kod ženskog pola. Grafikon br 15. Prenatalne anomalije u odnosu na pol U slučajevima prenatalno otkrivenih anomalija trudnoće su završene vaginalnim porođajem u 84 % slučajeva a operativnim putem u 16 % slučajeva. Grafikon br. 16. Modus porođaja kod prenatalnih anomalija Apgar skor u petom minutu na rođenju kod prenatalno otkrivenih anomalija je u 51,6 % slučajeva 9. Desetku je dobilo 32,3% posto novorođenčadi, osmicu 9,7 % a po šesticu i sedmicu po jedno novorođenče. Tabela br. 23. Apgar skor na rođenju prenatalno Kod 58,1 % žena ovo je bio prvi porođaj, drugorotki je bilo 29 % a trećerotki 12,9 %. Tabela br. 24. Partitet kod prenatalnih anomalija Prosečna telesna masa na rođenju iznosi 3327 grama (±587,6). Najmanja telesna masa iznosi 1250 gr a najveća 4500 grama. Prosečna telesna dužina iznosi 51,48 cm (÷3,55). Najmanja dužina je 37 cm a najduža 55 cm. Tabela br. 25. Telesna masa i dužina novorođenčadi, prenatalno Ukupno 68 % prenatalno otkrivenih anomalija su anomalije srca. Ukupno 10 % su anomalije genito- urinarnog trakta a 7% abdomena. Viđene su i po jedna anomalija CNS –a, ekstremiteta, lica, multipla u hromozomopatija. 24 Grafikon br 17. Prenatalne anomalije po sistemima Ukupno sedam novorođenčadi kod kojih je otkrivena anomalija je upućeno u ustanovu višeg ranga na dalji tretman. Troje novorođenčadi je transportovano u Institut za majku i dete, dvoje u Institut za neonatologiju i dvoje na Univerzitetsku dečiju kliniku u Beogadu. Jedno novorođenče je preminulo. 3. Analiza anomalija u OB Vršac U Opštoj bolnici Vršac ukupno je dijagnostikovano 56 anomalija, što čini 38,62 % od ukupnog broja. Posmatrano po godinama: najviše je bilo u 2011. godini (46,42 %), te u 2012. godini (35,71 %). a najmanje 2010. godine (5,6%). Grafikon br. 18. Anomalije OB Vršac po godinama Polna struktura anomalije otkrivenih u OB Vršac je sledeća: 75 % kod muškog pola i 25 % kod ženskog pola. Grafikon br. 19. Polna strukura anomalija OB Vršac Prenatalno je viđeno 3,5 % anomalija a 95 % po rođenju, postnatalno. Grafikon br. 20. Anomalije po vremenu dijagnoze OB Vršac Porođaji su u većini slučajeva bili vagnialni, 73 %, a 27% žena se porodilo carskim rezom. Grafikon br. 21. Modus porođaja OB Vršac Najviše je bilo anomalija genito-urinarnog trakta 26 (46 %), zatim kod ekstremiteta 15 (27%). Anaomalija srca je bilo 6 (10 %) a abdomena 4 (7 %). Pronađene su po jedna anomalija: glave, grudnog koša, mozga, hromozomopatija i multipla anomalija. Grafikon br. 22. Anomalije po sistemima OB Vršac 4. Analiza anomalija u OB Pančevo U OB Pančevo je dijagnostikovano ukupno 85 slučajeva anomalija koji predstavljaju ukupno 58,6 % od ukupnog broja analiziranih anomalija. Najviše anomalija je bilo 2010. godine je bilo 37,64 %, zatim 2012. 31,74% a najmanje 2011.godine 30,58 %. Grafikon br. 23. Anomalije u OB Pančevo po godinama Veći procenat anomalija je otkriven postnatalno 72 % a prenatalno su viđene u 24 trudnoće (28%). Grafikon br. 24. Anomalije po vremenu dijagnoze OB Pančevo Što se tiče polne strukture, veća učestalost je kod muškog pola (56 %) a kod ženskog pola u 44 % slučajeva. Grafikon br. 25. Polna struktura anomalija OB Pančevo U OB Pančevo porođaji su u većini slučajeva bili vaginalni, 75 %, a 25% žena se porodilo carskim rezom. 25 Grafikon br. 26. Modus porođaja OB Pančevo U OB Pančevo najviše je otkriveno srčanih mana (43) 50 %. Na drugom mestu su anomalije ekstremiteta (15) sa 18 %. Otkriveno je po 10 slučajeva anomalija urinarnog trakta i lica (12 %). Anomalija CNS-a je bilo (5) 6 %. Zabeležene su po jedna anomalija GIT-a i pluća. Grafikon br. 27. Anomalije po sistemima OB Pančevo Od 85 slučajeva anomalija 12 (14,11 %) je transportovano u ustanovu višeg ranga. Na Institut za majku i dete i Univerzitestku dečiju kliniku trasportovano je 10 novororođenčadi a dvoje novorođenčadi je upućeno na Institu za neonatologiju. Ostala novorođenčad je upućena na kontrole kod nadleženih lekara specijalista, uglavnom hirurga. 5. Analiza anomalija Ginekološko-akušerksa klinika “Narodni front” Uvidom u medicinsku arhivu protokole i Istorije porođaja u Ginekološko- akušerskoj klinici pronađeno je 4 slučajeva anomalija kod pacijentkinja sa teritorije Južni Banat, gde su anomalije viđene prenatalno te su upućene na dalje lečenje u ustanovu višeg ranga. - 1. U 2010. godini otkrivena je jedna anomalija adbomena (gastrošiza) kod ženskog ploda. Pacijentkiji (1991. godište) je ovo bila prva trudnoća, porođena je u 37 gestacijskoj nedelji (AS 4/6, TM 2780/47 cm). - 2. U 2011 godini je kod pacijetkinje (1983. godište) otkrivena anomalija abdomena kod ženskog ploda u 29 gestacijskoj nedelji. Pacijentkinja je prođena u 30 gestacijskoj nedelji (AS 5/7, TM 1120/37 cm). Novorođenče je preminulo po rođenju. - 3. Kod pacijentkinje (1982. godište) je u trudnoći otkrivene multiple anomalije kod ženskog ploda. (Dg: Atresio esophagi. Fistula trachoesophagealus susp. Sy L. Down). Pacijentkinja se porodila vaginalnim putem u 36 gestacijskoj nedelji TM 2300/45 cm, AS 7/9). - 4. U 2012. godini je kod pacijentkinje u trudnoći otkrivena hromozomopatija kod muškog ploda u 36 gestacijskoj nedelji (AS9/10, TM 2900/50 cm). Pacijentkinja se porodila u 39 GN. Dete je prebačeno na Odeljenje genetike pod sumnjom na Sy L. Down. Tabela br. 26. Anomalije potvrdjene u GAK “Narodni front”. 26 Ispunjavanje ciljeva projekta Ustanovljavanje incidence anomalija i hromozomopatija i prenatalne stope detekcije nije bilo moguće na osnovu prikupljenih dostupnih podataka, jer su podaci bili nepotpuni i samim tim nedovoljni da bi se pouzdano mogli izračunati statistički podaci. Uvidom u dostupne podatke, medjutim, vidi se da ima prostora za definisanje pravaca za smanjenje rizika od razvoja kongenitalnih anomalija, posebno u okviru dizanja svesti o prekoncepcionoj suplementaciji folnom kiselinom, u cilju smanjenja rizika od pojave defekata neuralne cevi. Što se specifičnog cilja dobijanja uvida u praćenje trudnoće i postnatalne ishode trudnoća sa prenatalno dijagnostikovanim anomalijama i hromozomopatijama jasno je da nema adekvatnog sistema kako registracije tako i praćenja kongenitalnih anomalija, a dodatno situaciju otežava i mogućnost da ustanove koje učestvuju u prenatalnoj i postnatalnoj detekciji, mogu da odbiju davanje podataka o anomalijama, ometajući tako veoma važan deo praćenja stanja zdravstvene zaštite. Specifični cilj podizanja nivoa svesti o neophodnim akcijama koje za cilj imaju smanjenje rizika za razvoj kongenitalnih anomalija i hromozomopatija je ispunjen u potpunosti, jer je edukacija lekara, uz edukaciju trudnica i medijsku promociju projekta sama po sebi ukazala na neadekvatan postojeći sistem i digla svest o potrebi izmene sistema dijagnostike, praćenja i registrovanja kongenitalnih anomalija. 27 DISKUSIJA Prenatalna dijagnostika je postala normativ u adekvatnom vodjenju trudnoće i njena primena je veoma široka, ali je za uspešnu primenu skrininga anomalija i patoloških stanja ploda u trudnoći neophodna odgovarajuća ultrazvučna oprema, adekvatna kontinuirana edukacija lekara koji se bave ovim segmentom dijagnostike, te multidisciplinarni pristup. Kongenitalne anomalije, od kojih su najčešće malformacije srca, izjednačile su se sa prematuritetom kao vodeći uzrok perinatalnog morbiditeta i mortaliteta. U cilju poboljšanja stope detekcije ovakvih poremećaja, potreban je rad kako na podizanju nivoa primarne zdravstvene zaštite – skrininga svih trudnica ultrazvučnim pregledima u odgovarajućim periodima trudnoće, tako i na usavršavanju centara tercijernog nivoa u kojim se primenjuje multidisciplinarni pristup anomalijama, uz ekspertizu problema i primenu svih raspoloživih dijagnostičkih i terapijskih mogućnosti i adekvatno planiranje postnatalnog toka. Savremena zdravstvena zaštita ima problem fragmentacije usluga i koordinacije pružanja nege, posebno u situaciji potrebe za interdisciplinarnim pristupom problemu, što je slučaj kod prenatalno dijagnostikovanih anomalija. Rad centra za regionalno praćenje, dijagnostiku i organizaciju daljeg praćenja trudnoća sa prenatalno dijagnostikovanim anomalijama može značajno poboljšati koordinaciju usluga i ubrzati dobijanje adekvatne i pravovremene informacije o mogućnostima za dalji tok trudnoće. S obzirom na konstantni pad nataliteta u Vojvodini, od izuzetne je važnosti da svaka trudnoća za ishod ima zdravo novorodjence. Pravilne kontrole trudnoće za cilj imaju da pravovremeno otkriju: anomalije inkompatibilne sa životom, anomalije sa lošom prognozom i teškim invaliditetima, anomalije koje, ukoliko se na vreme otkriju, imaju bolju postnatalnu prognozu. Registrovane anomalije u regionu Južni Banat u periodu 2010. – 2012. godina Incidenca i stopa detekcije u ispitivanom materijalu Uvidom u podatke koje je tim istraživača Opšte bolnice Vršac prikupio za ispitivani period, navedeno je da je registrovano 145 anomalije. U regionu Južni Banat postoji tri porodilišta – u Opštoj bolnici Vršac, gde godišnje ima 500 porodjaja, u Opštoj bolnici Pančevo, gde ima oko 1200 porodjaja godišnje. Na ovom broju anomalija nije moguće izračunati incidencu u regionu u posmatranom periodu, jer je broj registrovanih anomalija nizak, kao i broj anomalija po sistemima. Potrebno je sukcesivno i tačno praćenje kretanja anomalija, kako prenatalno tako i postnatalno dijagnostikovanih, što sada nije moguće, jer nema odgovarajućeg zakonskog sistema hijerarhije dijagnostike i registracije, obaveze prijave anomalija, te uzimanja i praćenja, kao i analize epidemioloških podataka, kao i rasipanja 28 pacijenata koji, zbog nepostojanja čvrstog sistema upućivanja odlaze u druge centre gde se ne registruje njihovo teritorijalno poreklo i samim tim se anomalija ne vezuje za to. Faktori rizika za razvoj anomalija Nemogućnost vezivanja anomalije za odredjeni region, neadekvatna registracija, nepostojanje sistema praćenja toka trudnoće, eventualne terminacije ili porodjaja, kariotipa, pridruženih anomalija te potvrde postojanja ili odsustvo postojanja anomalije nakon prekida trudnoće ili porodjaja, kao posledicu ima nemogućnost utvrdjivanja tačnih epidemioloških karakteristika i faktora rizika za razvoja anomalija. Najčešće teške kongenitalne anomalije su anomalije srca, defekti neuralne cevi i Daunov sindrom. Uopšteno gledano, postoji nekoliko grupa faktora rizika za razvoj anomalija – genetski faktori, infektivni i uticaj okoline, ali najčešće nije moguće definisati tačan uzrok. Rizik od mnogih anomalija može biti smanjen – vakcinacijom, odgovarajućom ishranom, vitaminskom suplementacijom – unosom folne kiseline i joda i dobrom antenatalnom zaštitom. U oko 50% slučajeva razvoj kongenitalnih anomalija ne može se povezati sa specifičnim uzrokom, ali se može definisati nekoliko velikih grupa koje mogu dovesti do njihovog nastanka. Najčešći uzroci i faktori rizika za razvoj kongenitalnih anomalija su: - socio-ekonomski faktori – mada moguće da je uzrok indirektan, kongenitalne anomalije češće su u siromašnijim zemljama i u siromašnijoj populaciji, gde je ishrana lošija, nema pristupa dobroj antenalatlnoj zaštiti, a izloženost štetnim agensima može biti manje kontrolisana. Izuzetak je Daunov sindrom, koji je direktno vezan sa godinama starosti majke, te je češći u sredinama gde je srednja vrednost starosti majke veća, odnosno razvijenijim sredinama gde se odlaže materinstvo - genetski faktori – konsangvinitet povećava prevalencu retkih genetskih anomalija. U nekim etničkim zajednicama je veći broj retkih genetskih mutacija - infekcije – maternalne infekcije poput sifilisa i rubele povećavaju rizik od kongenitalnih malformacija u opštoj populaciji - rubela, toksoplazma, citomegalovirus, sifilis, HIV/AIDS. Infekcija rubelom može se izbeći vakcinacijom, sifilis i HIV adekvatnom zaštitom, lečenjem i skriningom. Protiv citomegalovirusa nema zaštite, ali se može sprovoditi skrining. - ishrana majke – nedovoljno unošenje joda i folne kiseline i šećerna bolest povećavaju rizik od razvoja kongenitalnih anomalija. Nedostatak joda može dovesti do spontanog pobačaja i neonatalne smrti , te do smanjenja intelektualnih sposobnosti deteta. Smanjenje nedovoljnog unosa može se eliminisati jodiranjem soli. - Faktori uticaja okoline – izlaganje majke pesticidima, nekim lekovima, alkoholu, duvanu, psihoaktivnim supstancama, nekim hemikalijama, visokim 29 dozama vitamina A i visokim dozama radijacije povećava rizik od kongenitalnih anomalija. Teratogeni su fizičke ili hemijske supstance koje mogu da deluju na plod, a mogu se izbeći planiranjem. Alkohol je teratogen i redovno izlaganje velikim količinama alkohola može da dovede do razvoja fetalnog alkoholnog sindroma koji karakteriše specifičan izgled deteta i smanjene intelektualne sposobnosti. Pušenje povećava rizik od prevremenog porodjaja, spontanog pobačaja, sindroma iznenadne neonatalne smrti, te razvoja rascepa nepca i usana. Izlaganje lekovima koji mogu biti teratogeni je retko u razvijenim zemljama, ali je često u siromašnijim sredinam. Teratogeni lekovi su fenitoin, talidomid, mizoprostol, vitamin A, statini… - Hronične bolesti majke – inzulin zavisni dijabetes majke, koji se javlja u oko 0.5% trudnoća u visoko razvijenim zemljama, značajno povećava rizik od razvoja kongenitalnih anomalija. U nerazvijenim zemljama anomalije su, zbog lošije regulacije i neadekvatnog skrininga, mnogo češće. Lekovi koji se koriste u terapiji epilepsije podižu rizik od razvoja kongenitalnih anomalija – defekta neuralne cevi i kardijalnih anomalija. Predložene mere za podizanje nivoa antenatalne zaštite – smanjenja rizika za razvoj kongenitalnih anomalija Svetska zdravstvena organizacija je 2010. godine usvojila rezoluciju kojom poziva sve svoje članice da promovišu primarnu prevenciju kongenitalnih anomalija - razvojem i jačanjem registracije i sistema nadzora - razvojem ekspertize i organizacije zdravstvenih ustanova - razvojem istraživanja i ispitivanja u polju etiologije, dijagnoze i prevencije - promovisanjem internacionalne saradnje Predložene preventivne mere u domenu javnog zdravlja na primarnom nivou, u cilju smanjenja rizika od razvoja kongenitalnih anomalija su: - poboljšanje ishrane žena tokom njihovih reproduktivnih godina, uz odgovarajuću vitamnisku suplementaciju vitamina i minerala, posebno folne kiseline i joda, uz izbegavanje upotrebe štetnih materija – alkohola, duvana i psihoaktivnih supstanci - odgovarajuća kontrola pre-egzistirajućih hroničnih oboljenja majke - dijabetesa, gojaznosti, fenilketonurije, seksualno prennosivih bolesti, hipotireoidizma, epilepsije, HIV-a) - izbegavanje izlaganja štetnim supstancama iz okoline (teškim metalima, pesticidima, nekim lekoveima) tokom trudnoće - poboljšanje obuhvata vakcinacije (rubela, varičela, hepatitis B) - jačanje sistema zdravstvene zaštite edukacijom zdravstvenog osoblja koje se bavi promocijom zdravlja prevencijom kongenitalnih anomalija 30 Predlog akcionog plana za prevenciju kongenitalnih anomalija, smanjenje rizika od razvoja kongenitalnih anomalija i adekvatni skrining i tretman trudnoća sa kongenitalnim anomalijama u regonu Južni Banat - organizacija edukativnih kampanja za opštu populaciju o potrebi o planiranja trudnoće, o upotrebe vitaminskih suplemenata za smanjenje rizika od razvoja kongenitalnih anomalija – defekata neuralne cevi, o redovnih pregleda tokom trudnoće, o skrininga hromozomopatija, o smanjenja faktora rizika za razvoj kongenitalnih anomalija – prestanak pušenja, smanjenje unosa većih količina ugjenih hidrata, izbegavanje izlaganju rentgenskim zracima, izbegavanje uzimanja lekova bez saveta lekara, prestanak rada na radnim mestima koja nose rizik od uticaja na razvoj kongenitalnih anomalija, izbegavanje izlaganja riziku od infekcija o boljeg razumevanja prirode kongenitalnih anomalija i hromozomopatija - organizacija kontinuirane edukacije medicinskih radnika o organizaciju edukativnih kurseva i seminara različitog nivoa za potrebe edukacije lekara koji se bave zdravstvenom zaštitom žena u cilju bolje detekcije kongenitalnih anomalija i hromozomopatija i to edukativni seminar o savremenom skriningu hromozomopatija (ultrazvučni, biohemijski skrining, neinvazivni prenatalni testing, kariotipizacija) edukativni seminar o ultrazvučnom pregledu u I, II i III trimestru trudnoće – bazični nivo – osnovni ultrazvulčni pregled edukativni seminar o ultrazvučnom pregledu u I, II i III trimestru trudnoće – napredni nivo – detekcija anomalija i ultrazvučni skrining hromozomopatija edukativni seminar – fetalna neurosonografija edukativni seminar – fetalna ehokardiografija edukativni seminar za neonatologe o tretmanu novorodjenčadi sa kongenitalnim anomalijama o razvoj edukativnog materijala za medicinsko osoblje koje radi u oblasti zdravstvene zaštite žena u polju savetovanja žena fertilnog perida za planiranje trudnoće i smanjenje rizičnog ponašanja tokom trudnoće, praćenja trudnoće, ultrazvučnih pregleda tokom trudnoće, skrininga hromozomopatija, invazivnih intervencija u cilju kariotipizacije, konzilijarnih pregleda nakon otkrivanja anomalija – savetovanje, praćenje trudnoće, odluka o načinu završavanja trudnoće, briga o novorodjenčetu nakon porodjaja i to 31 atlas normalne morfologije i najčešćih anomalija, namenjenog lekarima ginekolozima – akušerima interaktivni edukativnog CD-a o ultrazvučnom pregledu ploda i ultrazvučlnoj prezentaciji najčešćih anomalija ploda plakat sa navedenim listama provere za standardizovan ultrazvučni pregled u trudnoći adekvatan, monografija o terapiji novorodjenčeta sa kongenitalnim anomalijama namenjene lekarima pedijatrima - neonatolozima o organizacija multidisclinarniih konzilijarnih medicinskih timova koji bi učestvovali u detekciji i praćenju trudnoća sa kongenitalnim anomalijama, adekvatnom savetovanju roditelja i planiranju daljeg toka trudnoće i porodjaja organizacija tima - u timu koji se bavi registrom prenatalno dijagnostikovanih anomalija potrebno je da budu lekari odeljenja za ultrazvučnu dijagnostiku, odeljenja visokorizičnih trudnoća i patologije trudnoće, te odeljenja za planiranje porodice, a da za registraciju i praćenje postnatalno detektovanih anomalija bude zaduženo odeljenje za neonatologiju organizacija šeme upućivanja - kada se postavi dijagnoza anomalije u Opštoj bolnici Vršac, ili po prispeću anomalije dijagnostikovane u drugom centru, ona se konzilijarno potvrdi – konzilijum čine najmanje dva lekara koji se bave ciljanom prenatalnom ultrazvučnom dijagnostikom, te se traže dalje neophodne pretrage u smislu kariotipizacije, odnosno organizacije konsultacije drugih specijalnosti – pedijatara i dečjih hirurga, ili po potrebi anomalije i drugih specijalnosti – radiologa, oftalmologa Itd. Organizacija struktuiranog savetovanja roditelja - nakon obavljenih konsultacija, situacija i prognoza se predočavaju roditeljima, koji dalje donose odluku šta dalje žele sa trudnoćom. Ukoliko se odlučuje za terminaciju trudnoće, pre dvadesete nedelje potrebna je odluka Prvostepene komisije, a nakon 20. nedelje gestacije Etičkog komiteta, te se trudnica upućuje u tercijernu ustanovu. Organizacija nadzora trudnoće - u slučaju nastavka trudnoće, organizuju se redovne kontrole ploda, uz planiranje porodjaja i organizaciju prisustva lekara odredjenih specijalnosti na porodjaju, koji, zajedno sa neonatologom, dalje vode slučaj Organizacija terminacije trudnoće u slučaju terminacije trudnoće obavezna je obdukcija ploda, a informacija o njenom ishodu prilaže se u istoriju bolesti pacijentkinje koja je bila hospitalizovana u bolnici 32 o Upotreba uniformnih registracionih izveštaja u cilju mogućnosti ustanovljanja registra za kongenitalne anomalije i hromozomopatije u regiji Južni Banat, uz mogućnost proširivanja registra na region cele Vojvodine (Appendices 1, 2, 3, 4) o upotreba standardizovanog izveštaja o ultrazvučnom pregledu I tirmestar (APPENDIX 5) II/III trimestar (APPENDIX 6) o formiranje registra kongenitalnih anomalija i hromozomopatija u regiji Južni Banat, uz mogućnost proširivanja registra na region cele Vojvodine. Ciljevi formiranja registra su: poboljšanje prenatalne detekcije adekvatna dokumentacija i registracija anomalija uz potrebna dodatna ispitivanja organizacija daljeg tretmana trudnoća sa anomalijama planiranje načina, vremena i mesta završavanja trudnoće praćenje i evidentiranje ishoda – kratkoročnog i dugoročnog planiranje sledećih trudnoća o razvoj smernica za prenatalne ultrazvučne preglede u cilju uniformnog pregleda na svim nivoima prenatalne zdravstvene zaštite o organizacija radionice za edukaciju koordinatora registra kongenitalnih anomalija i hromozomopatija – ginekologai neonatologa o prevazilaženju problema registracije o organizacija promocije osnivanja i rada Registra anomalija i hromozomopatija gde bi, pred lekara specijalista ginekologije i akušerstva, te pedijatrije i neonatologije prisustvovalo i ostalo medicinsko osoblje koje radi sa trudnicama i novorodjenčadi o nabavka savremenih ultrazvučnih aparata u cilju bolje dijagnostike anomalija o centralizacija podataka postavljanjem interaktivnog sajta za online registraciju anomalija. Pristup sajtu bi bio stratifikovan, tako da bi se na najvišem nivou pratio unos svih podataka, kao i njegova obrada, a svi koji učestvuju bi mgli da imaju uvida u ishode slučajeva, kao i praćenje informacija i ishoda pretraga. Na taj način bi se prevazišlo dupliranje podataka, a omogućila brza, on line konsultacija tima o formiranje softvera za obradu podataka, što bi dovelo bi do adekvatne obrade i prikaza podataka, bez rasipanja i dupliranja podataka o promocija u opštoj populaciji - pravljenje promotivnog materijala za opštu populaciju, u cilju distribucije informacija i upoznavanja opšte populacije, a posebno trudnica sa značajem cilja projekta: specijalne edukativne publikacije za trudnice 33 informativni lifleti za trudnice o primeni ultrazvuka u akušerstvu promotivne majice za trudnice i zdravstveno osoblje sa logom projekta plakati za trudnice promotivne nalepnice za zdravstvene ustanove organizacija edukativnih radionica za žene generativnog perioda i trudnice, na kojima se promoviše zdrav način života, priprema za trudnoću i adekvatna prenatalna zaštita sa porukama i sloganima: • Planirajte trudnoću – udjite u trudnoću zdravi, pijte 400 mcg folne kiseline dnevno bar tri meseca pre no što ostanete trudni • Izbegavajte štetne materije - nemojte unositi alkohol i pušiti, izbegavajte izlaganje štetnim materijama na poslu i kod kuće • Odaberite zdrav stil života – jedite zdravu i raznovrsnu hranu, budite fizički aktivni, ako imate hronična oboljenja idite na redovne kontrole • Razgovarajte sa svojim lekarom – redovno idite na kontrole, pre uzimanja nekog leka razgovarajte o njegovom uticaju na trudnoću, recite lekaru svoju ličnu i porodičnu anamnezu Uspostavljanje registra kongenitalnih anomalija u Južnom Banatu i Vojvodini Adekvatna dokumentacija i registracija kongenitalnih anomalija ima sudsko medicinski značaj, u smislu zaštite kako pacijenta tako i lekara koji se bave ovom problematikom i sprečava prekide trudnoće bez adekvatnih odobrenja i relevantne medicinske dokumentacije i na osnovu relevantnih podataka daje jedinstvene naučne podatke o vrstama kongenitalnih anomalija i hromozomopatijama na ovim prostorima i pruža roditeljima uvid u prognozu ploda u našim uslovima i omogućava maksimalnu negu novorođenčeta. Registar pruža određene podatke o incidenci, stopama detekcije i prognoze anomalija specifične za naše područje. Ciljevi programa registracije i nadzora kongenitalnih anomalija su: - praćenje trenda prevalence različitih tipova kongenitalnih anomalija u odredjenoj populaciji - detekcija klastera kongenitalnih anomalija - pravovremeno upućivanje aficiranih trudnoća u adekvatne centre - diseminacija nalaza i njihovih interpretacija u odgovarajuće partnerske organizacije i vladine ustanove 34 - pravljenje baze podataka za epidemiološka istraživanja, uključujući definisanje faktora rizika i mogućnosti organizacije programa prevencije - procena uspeha programa evaluacije Početni nivo organizacije registracije kongenitalnih anomalija može obuhvatati samo strukturalne anomalije koje se mogu relativno jednostavno dijagnostikovati prenatalno ili neposredno nakon rodjenja. Obično su to major strukturalne anomalije tipa rascepa lica, defekata neuralne cevi ili anomalija ekstremiteta. Detekcija internih strukturnih anomalija (kongenitalnih srčanih mana, anomalija creva, urogenitalnog sistema…) zahteva upotrebu imidžing tehnika ili drugih specijalizovanih metoda i intervencija koje ne moraju biti uvek dostupni. Klasifikacija mehanizama razvoja ili kliničkih prezentacija može biti važan deo u dijagnostici i praćenju anomalija, jer nekada ista kongenitalna anomalija može imati različitu etiologiju. Predlozi organizacija prikupljanja, analize i registracije podataka - Nalaženje partnera za razvoj i finansiranje registra anomalija – mogući partneri obuhataju Ministarstvo zdravlja Republike Srbije, Ministarstvo za ekologiju, različite vladine agencije, strukovna udruženja lekara i medicinskih radnika, privatne zdravstvene organizacije, osiguravajuće kompanije, obrazovne institucije, nevladine organizacije koje se bave zdravljem i socijalnim pitanjima, udruženja roditelja dece sa zdravstvenim problemima, istraživači, medija, crkva. - Uvodjenje obaveze prijavljivanja i praćenja prenatalno i postnatalno dijagnostikovanih anomalija – mandatorno i volontersko. Mandatorno se uvodi zakonskom legislativom , a volontersko se zasniva na dobrovoljnom učestvovanju u programu, što je manje efikasno. - Osiguravanje tajnosti podataka - Prikupljanje podataka – izvori treba da budu višestruki i da obuhvataju o Odeljenja patologije trudnoće i visokoričnih trudnoća o Odeljenja za ultrazvučnu prenatalnu dijagnostiku o Ginekološko-akušerske ordinacije o protokole porodjajne sale o neonatalna odeljenja pri porodjajnim salama o pedijatrijska odeljenja o odeljenja dečje hirurgije o kardiološke ambulante o patohistološke laboratorije i zavode o zavode sudske medicine o laboratorije za genetsku dijagnostiku - Kontrola prikupljenih podataka 35 o uporedjivanje kretanja incidence, stope prenatalne detekcije, stope lažno pozitivnih i lažno negativnih nalaza unutar pojedinačnih ustanova, uporedjivanja rezultata ustanova u odabranom regionu o uporedjivanja statističkih performansi dijagnostike sa ustanovljenim kretanjima u opštoj populaciji u drugim regionima o provera unosa – obezbedjivanje individualnog unosa, bez ponavljanja rezultata 36 ZAKLJUČCI I Opšti podaci 1. Prosečna starost porođenih žena u analiziranom materijalu je 30,36 godina (±5,41.min 17, max 44). Najviše porodilja, njih 50, pripada starosnoj grupi 30-34 godine, potom starosnoj grupi od 25-29 godina (46), njih 23 je u grupi 35-39 godina a najmanje je adolescentkinja (4). 2. Za više od polovine pacijentkinja (51,7%) ovo je bio prvi porođaj. Drugi porođaj je bio za više od trećine pacijentkinja (32,4%); treći put se porođalo 11% žena, za njih 4 (2,8%) ovo je bio četvrti porođaj a po peti i šesti put se porođala po jedna žena. Od ukupno 145 porođaja, 74% je bilo vaginalnim putem a 26% trudnoća završen je operativnim putem 3. Od ukupno 145 dijagnostikovanih anomalija najveći procenat je prijavljen u OB Pančevo, 58,6 %, zatim u Opštoj bolnici Vršac, 38,6 % a odredjeni procenat sa područja Južnobanatskog okruga upućen je na dalju dijagnostiku i terapiju Beograd, u GAK „Narodni front“, 2,8%. 4. Ukupno 63,4 % otkrivenih anomalija bilo kod novorođenčadi muškog pola a 36,6 % ženskog pola. Prosečna telesna masa na rođenju kod novorođenčadi sa anomalijama iznosi 3334 gr a prosečna telesna dužina 51,32 cm 5. Pacijentkinje su se u proseku porodile u 39-oj (±1,42) gestacijskoj nedelji. Najveći procenat pacijentkinja (41,4%) se porodilo u 40-oj nedelji trudnoće. Pre 38. gestacijske nedelje porodilo se 14,5 % pacijentkinja. II Analiza registrovanih anomalija 1. Uvidom u raspoloživu medicinsku dokumentaciju medicinskih centara za oblast Južni Banat, ukupno je nađeno registrovano 145 slučajeva anomalija. Od toga je 114 anomalija (78,6%) otkriveno po rođenju a 31 (24,4%) u toku trudnoće. 2. Tokom 2010. dijagnostikovano je 43 anomalije (29,65 %), u 2011. godini 54 anomalija (37,24 %) , a u 2012. godini 48 anomalija (33,10 %). 3. Najveći broj otkrivenih anomalija su srčane mane, 49 (34%). Anomalije ekstremiteta su druge po učestalosti (30, 21 %). Na trećem mestu je anomalije genito urinarnog trakta (36, 25 %). Anomalije lica vidjene su u 9 slučajeva (6 %), anomalije CNS u 5, (3 %), glave u 3 (2 %). Otkrivene su po dve hromozomopatije, multiple anomalije i anomalije gastointestinalnog trakta. Pronađene su po jedna anomalija na: plućima, mozgu i grudnom košu (0,7 %). 37 a) Postnatalne anomalije 1. Postanatalno otkrivenih anomalija je bilo 114 (78,6 %). U OB Pančevo je dijagnostikovan 61 slučaj anomalija (53,5 %) a u OB Vršac 53 (46,5 %). Prosečna starost majki iznosi 33,37 godina.. Prosečna gestacija je bila 38,96 nedelja (±1,24). Prosečna telesna masa novorođenčadi je iznosila 3335 grama (± 520) a telesna dužina 21,24 (± 3,01). 2. Većina postnatalnih anomalija je dijagnostikovana u OB Pančevo 53,5 % a 46,5 % je otkrivena u OB Vršac. Najviše otkrivenih anomalija je bilo u 2012 godini – 37,7 %. Ukupno 37,7 % postnatalnih anomalija je otkrivena 2012. godine, 36 % 2011. godine a 26,3 % 2010. godine 3. U slučajevima kada su anomalije otkrivene postnatalno većina njih (33) pripada genito urinarnom traktu, 29 %. Na drugom mestu su anomalije ekstremiteta (29), 25 %, a na trećem srčane mane (28), 25 %. Potom slede anomalije lica (9) sa 8 %, CNS i abdomena (4) sa 3 %. Otkrivena je po jedna anomalija: glave, GITa, grudnog koša, mozga, pluća i po jedna multipla anomalija i hromozomopatija. 4. U slučajevima postnatalno otkrivenih anomalija najveći broj novorođenčadi je upućen na dalje preglede kod nadležnih lekara specijalista, troje je umrlo, po sedmoro je upućeno u Institut za najmku i dete i Univerzitetsku dečiju kliniku a dvoje na Institut za neonatologiju. b) Prenatalne anomalije 1. Prenatalno otkrivenih anomalija je bilo 31 (21,4 %). Prosečna starost majki u ovoj grupi iznosi 31,86 godina. Prosečna gestacija prilikom porođaja kod prenatalnih anomalija je bila 38,87 nedelja (±1,97). Prosečna telesna masa novorođenčadi je iznosila 3327 grama (± 587) a telesna dužina 51,48 (± 3,01). Prosečni broj porođaja u odnosu na pacijentkinje iznosi 1,54 (± 0,72). 2. Najviše prenatalno otktivenih anomalija je u OB Pančevo 24 (77,4 %), te u OB Vršac 3 (9,7%). Upućenih na dalje lečenje u GAK “Narodni front” je bilo 4 (12,9%), 3. Ukupno 68 % prenatalno otkrivenih anomalija su anomalije srca. Ukupno 10 % su anomalije genito urinarnog trakta a 7% abdomena. Viđene su i po jedna anomalija CNS –a, ekstremiteta, lica, multipla u hromozomopatija. 4. Ukupno sedam novorođenčadi kod kojih je otkrivena anomalija je upućeno u ustanovu višeg ranga na dalji tretman. Troje novorođenčadi je transportovano u Institut za majku i dete, dvoje u Institut za neonatologiju i dvoje na Univerzitetsku dečiju kliniku u Beogadu. Jedno novorođenče je preminulo 38 III Analiza anomalija po zdravstevnim ustanovama a) Opšta bolnca Vršac 1. U Opštoj bolnici Vršac ukupno je dijagnostikovano 56 anomalija, što čini 38,62 % od ukupnog broja. 2. Posmatrano po godinama: najviše anomalija je bilo u 2011. godini (46,42 %), te u 2012. godini (35,71 %). a najmanje 2010. godine (17,9%). U odnosu na ukupan broj porođaja u OB Vršac (izvor Republički Zavod za statisiku) anomalije beleže blag porast: u 2010. bilo 486 porođaja a 10 anomalija 2,05 %, u 2011. je bilo 463 porođaja a 26 anomalija – 5,61 % a u 2012. je bilo 486 porođaja a 20 anomalija – 4,11 %. 3. Prenatalno je viđeno 5 % anomalija a 95 % po rođenju, postnatalno. Porođaji su u većini slučajeva bili vagnialni, 73 %, a 27% žena se porodilo carskim rezom. 4. Najviše je bilo anomalija genito urinarnog trakta 26 (46 %), zatim kod ekstremiteta 15 (27%). Anomalija srca je bilo 6 (10 %) a abdomena 4 (7 %). Pronađene su po jedna anomalija: glave, grudnog koša, mozga, hromozomopatija i multipla anomalija b) Opšta bolnica Pančevo 1. U Opštoj bolnici Pančevo dijagnostikovano je ukupno 85 slučajeva anomalija, 58,6 % od ukupnog broja analiziranih anomalija. Najviše anomalija je bilo 2010. godine, 37,64 %, zatim 2012. 31,74% a najmanje 2011.godine 30,58 %. 2. U odnosu na ukupan broj porođaja (izvor Republički Zavod za statistiku) anomalije beleže blag pad: u 2010. bilo 1195 porođaja a 32 anomalije 2,67 %, u 2011. je bilo 1147 porođaja a 26 anomalija - 2,66 % a u 2012. je bilo 1198 porođaja a 27 anomalija - 2,25 %. 3. Veći procenat anomalija je otkriveno postnatalno 72 % a prenatalno su viđene u 24 trudnoće (28%). Porođaji su u većini slučajeva bili vagnialni, 75 %, a 25% žena se porodilo carskim rezom. 4. U OB Pančevo najviše je otkriveno srčanih mana (43) 50 %. Na drugom mestu su anomalije ekstremiteta (15) sa 18 %. Otkriveno je po 10 slučajeva anomalija urinarnog trakta i lica (12 %). Anomalija CNS-a je bilo (5) 6 %. Zabeležene su po jedna anomalija GIT-a i pluća. Pred nama je nekoliko je velikih izazova, koji obećavaju dalje prodore, ne samo u otkrivanju i lečenju poremećaja, već i u planiranju uslova za zdravo potomstvo. Glavni cilj prentalne dijagnostike nije samo otkrivanje fetusa sa kongenitalnim anomalijama, već sprovođenja intrauterinog lečenja ili planiranja vremena, načina i mesta porođaja. Pravovremeno otkrivanje kongenitalnh anomalija zahteva osmišljen 39 skrining cele populacije. Da bi se ovo postiglo, neophodno je da u sistem skrininga budu uključeni stručnjaci koji se bave primarnom zaštitom gravidnih žena, tj. ginekolozi. Adekvatna edukacija ginekologa i uvođenje standardizovanog pregleda omogućuje masovnije i rano otkrivanje anomalija, kada je sprečavanje njihovih štetnih efekata mnogo efikasnije. Neophodno je, međutim znati da postoje i ograničenja prenatalne dijagnostike. Jedan broj mana se ne može prenatalno dijagnostikovati. Prenatalno otkrivanje anomalija kod ploda nameće obavezu lekaru da roditelje obavesti o vrsti oboljenja, da im ukaže na prognozu bolesti i mogućnosti lečenja. Kod veoma teških i kompleksnih anomalija nameće se pitanje prekida trudnoće, kao jedne od mogućnosti u završavanju porođaja. Današnji stepen razvoja medicine, uvođenjem složenih operativnih tehnika i terapija je visok. S te tačke gledišta praktično ne postoje indikacije za prekid trudnoće. Iskustvo, međutim govori da pored toga i u najvećim svetskim centrima deca umiru posledica anomalija, a da deca operisana od kompleksnih formi bolesti ostaju doživotni invalidi, sa skraćenim životnim vekom. Pored toga, na postoji ujednačen razvoj medicine u svim zemljama i u svim centrima, te se pri donošenju odluke moraju izeti u obzir rezultati centra u kome se dete leči. Jasno je da nije moguće doneti jedinstveni stav, jer on zavisi od svakog pojedinog bolesnika, sredine, objektivnih mogućnosti za pomoć detetu u toj zemlji i regionu. Primena saznanja razvojne biologije, koja su veoma detaljno ispitala mehanizme geneze kongenitalnih anomalija, omogućava razvoj efikasnih mehanizama prevencije poremećaja. Ispitivanja najranijih uslova razvoja humanog embriona sa eliminacijom potencijalno štetnih i uvodjenjem korisnih elemenata stoje pred nama. Početni koraci su već napravljeni sa folnom kiselinom u prevenciji nastanka defekta neuralne tube. Tu su i eksperimenti sa nezasićenim masnim kiselinama i arahidonskom kiselinom. Drugi veliki zadatak je definisanje patofizioloških mehanizama feto-maternalnih sindroma na molekularnom i ćelijskom nivou. Ovakav pristup bi trebalo da omogući prevenciju onih hroničnih poremećaja koji se manifestuju posle latentnog perioda. Za razliku od današnjih mogućnosti fetalne medicine, potrebno je da se otkriju mehanizmi koji bi identifikovali ove poremećaje u njihovoj ranoj fazi, tj. na nivou molekularnih i ćelijskih poremećaja. Prevencija nastanka poremećaja, prvenstveno modifikacijom miljea najranijeg razvoja, od same fertilizacije oocita; pravovremena dijagnostika, bilo preimplantaciona i/ili rana neinvazivna (molekularna, celularna, biohemijska, funkcionalna, morfološka) dijagnostika; i pravovremena terapija (genska, medikamentozna, hirurška) će u budućnosti omogućiti optimalni antenatalni medicinski tretman fetusa. Predložene preventivne mere u domenu javnog zdravlja na primarnom nivou, u cilju smanjenja rizika od razvoja kongenitalnih anomalija su: - Promotivne kampanjeu opštoj populaciji, usmerene na poboljšanje ishrane uz izbegavanje upotrebe štetnih materija – alkohola, duvana i psihoaktivnih supstanci, planiranje trudnoće, redovne kontrole u trudnoći 40 - odgovarajuća kontrola pre-egzistirajućih hroničnih oboljenja majke - izbegavanje izlaganja štetnim supstancama iz okoline - poboljšanje obuhvata vakcinacije (rubela, varičela, hepatitis B) - jačanje sistema zdravstvene zaštite edukacijom zdravstvenog osoblja koje se bavi promocijom zdravlja prevencijom kongenitalnih anomalija, razvojem prenatalne i postnatalne dijagnostike i terapije - formiranje registra kongenitalnih anomalija ihromozomopatija - davanje inicijative za izmenu legislative registracije, hijerarhije upućivanja, postupaka praćenja i protokla postupanja Nadamo se da će ovaj izveštaj o prenatalno i postnatalno dijagnostikovanim anomalijama u regionu Južnog Banata u periodu od tri godine (2010-2012. godina) i izneti predlozi za smanjenje rizika od razvoja kongenitalnih anomalija, te o poboljšanju prenatalne detekcije, praćenja trudnoće sa kongenitalnom anomalijom, organizacije službe, multidisciplinarnom pristupu i organizaciji registra anomalija medjusobnim povezivanjem relevantinh službi, kao ultimativni rezultat imati podizanje nivoa zdravstvene zaštite populacije. 41 APPENDIX 1 INDIVIDUALNI OBRAZAC ZA REGISTRACIJU PRENATALNO DIJAGNOSTIKOVANIH ANOMALIJA I HROMOZOMOPATIJA Opšti podaci: Centar/ordinacija: ID broj (MB/ambulantni): Ime pacijenta: Datum rodjenja: Graviditet: Paritet: Lična anamneza (oboljenja, terapija, operacije): Porodična anamneza: Adresa: JMBG Telefon: NB: Svi navedeni podaci su strogo poverljivi, ali neophodni da bi se pacijent mogao locirati postnatalno, ukoliko bude neophodno da se dobiju dodatne informacije o slučaju) PRENATALNA DETEKCIJA ULTRAZVUČNI NALAZ Gestacija kada je anomalija dijagnostikovana: Gestacija kada su radjeni prethodni ultrazvučni pregledi: Vrsta anomalije (opis): Dodatne anomalije I nalazi: Kariotip: NB: Upisati kariotip bez obzira da li je kariotipizacija uradjena prenatalno ili postnatalno) Dodatne pretrage (konsultativni ultrazvučni pregledi, ehokardiografija, MRI, relevatne laboratorijske pretrage (TORCH, Parvo B19, biohemijski skrining u I/II trimestru): ISHOD TRUDNOĆE Terminacija trudnoće gestacija metod prekida (prostraglandini/instilacija) feticide Porodjaj Živorodjeno/mrtvorodjeno gestacija modus porodjaja 42 Anomalije vidjene nakon prekidta trudnoće/porodjaja: Nalaz na obdukciji: APPENDIX 2 INDIVIDUALNI OBRAZACA ZA REGISTRACIJU POSTNATALNO DIJAGNOSTIKOVANIH ANOMALIJA I HROMOZOMOPATIJA Centar/ porodilište/pedijatrijska služba: ID broj (MB): Ime majke: Datum rodjenja: Graviditet: Paritet: Lična anamneza: Porodična anamneza: Adresa: Telefon: Ime deteta: JMBG: Gestacija na rodjenju: Apgar skor na rodjenju: Modus porodjaja: NB: Svi navedeni podaci su strogo poverljivi, ali neophodni da bi se pacijent mogao locirati postnatalno, ukoliko bude neophodno da se dobiju dodatne informacije o slučaju) Starost deteta kada je dijagnostikovana anomalija: Vrsta anomalije: Dodatne anomalije i nalazi: Kariotip: Dodatne pretrage (konsultativni ultrazvučni pregledi, ehokardiografija, MRI, relevatne laboratorijske pretrage (TORCH, Parvo B19, biohemijski skrining u I/II trimestru): 43 APPENDIX 3 GRUPNI OBRAZACA ZA REGISTRACIJU PRENATALNO DIJAGNOSTIKOVANIH ANOMALIJA I HROMOZOMOPATIJA Vrsta broj Gestacija (nedelje) Živorodjeno/ mrtvorodjeno Postnatalna detekcija Defekti neuralne cevi Defekti skeletal Orofacijalni defekti Anomalije grudnog koša/pluća Anomalije gastrointestinalnog trakta Anomalije srca Anomalije urogenitalnog trakta Anomalije prednjeg trbušnog zida Hromozomopatije Vrsta sindroma Broj Gestacija (nedelje) Postnatalna detekcija Trizomija 21 Trizomija 18 Trizomija 13 Druge Ukupni broj anomalija: Ukupni broj hromozomopatija: NB: - svaka anomalija treba da bude predstavljena posebno, pod odgovarajućim sistemom I za svaku anomaliju trba prikazati kumulativni broj, kao I srednju gestaciju pri ultrazvučnoj detekciji, odnosno da li je detektovana postnatalno; - ako postoji morfološka anomalija kod hromozomopatije, to treba notirati I prikazati odvojeno, tako da ne bi bila brojana dva puta. 44 APPENDIX 4 GRUPNI OBRAZAC ZA REGISTRACIJU POSTNATALNO DIJAGNOSTIKOVANIH ANOMALIJA I HROMOZOMOPATIJA Vrsta broj Gestacija pri rodjenju (nedelje) Živorodjeno/ mrtvorodjeno Pol Defekti neuralne cevi Defekti skeletal Orofacijalni defekti Anomalije grudnog koša/pluća Anomalije gastrointestinalnog trakta Anomalije srca Anomalije urogenitalnog trakta Anomalije prednjeg trbušnog zida Hromozomopatije Vrsta sindroma broj Gestacija pri rodjenju (GN) Pol Trizomija 21 Trizomija 18 Trizomija 13 Druge Ukupni broj anomalija: Ukupni broj hromozomopatija: NB: - svaka anomalija treba da bude predstavljena posebno, pod odgovarajućim sistemom I za svaku anomaliju trba prikazati kumulativni broj, kao I gestaciju pri rodjenju; - ako postoji morfološka anomalija kod hromozomopatije, to treba notirati I prikazati odvojeno, tako da ne bi bila brojana dva puta 45 APPENDIX 5 PREDLOG UNIFORMNOG ULTRAZVUČNOG IZVEŠTAJA – I trimestar Ime i prezime: Godina rodjenja: Lična anamneza: Porodična anamneza: Poslednja menstruacija: Trajanje ciklusa: Način začeća: CRL: mm NT: mm BPD: mm HC: mm AC: mm FL: mm IT: Trikuspidalna regurgitacija: da/ne Protok kroz d.venosus: uredan/obrnut protok Napomene: 46 APPENDIX 6 PREDLOG UNIFORMNOG ULTRAZVUČNOG IZVEŠTAJA – II/III trimestar Ime i prezime: Godine starosti: Ciklus, dužina: Datum poslednje menstruacija: Verovatni termin porodjaja: Indikacija za ultrazvučni pregled: Starost po amenoreji: GN Starost po UZ: GN Broj fetusa: STP: da/ne Položaj: uzdužni/poprečni/kosi Prednjačeći deo: Posteljica: napred/natrag/fundus/visoko/nisko Stepen zrelosti: I/II/III Količina plodove vode: normalna/povećana/smanjena AFI: mm Pupčanik: broj krvnih sudova: Biometrija: BPD mm/OFD mm/HC mm/Va mm/ Vp mm/ Hem mm/ AC mm/ FL mm/ HL mm/CI/ HC:AC AP dijametar bubrežne karlice levo mm/ desno mm Pregled anatomija: lobanja / mozak/ lice/ vrat/ kičma/ pluća/ četiri šupljine srca/ GIT/ abdomen/ kičma / bubrezi/esktremiteti/genitalije Dužina grlića: mm Težina fetusa: gr Biofizičlki profil: Protok kroz a cerebri mediju: Protok kroz a.umbilikalis Napomene: Datum: Lekar: 47 APPENDIX 7 – GRAFIČKI PRIKAZI REZULTATA Grafikon br. 1. Starost porođenih žena Tabela br 1. Starost porođenih žena Starosne grupe N % 15-19 4 2,75 20-24 14 9,7 25-29 46 31,7 30-34 50 34,5 35-39 23 15,86 40-45 8 5,51 Ukupno 145 100 Tabela br 2. Porođaji N % Kumulativni procenat I porođaj 75 51,7 52,1 II porođaj 47 32,4 84,7 III porođaj 16 11,0 95,8 IV porođaj 4 2,8 98,6 V porođaj 1 0,7 99,3 100,0 VI poođaj 1 0,7 Total 144 99,3 48 Grafikon br. 3. Modus porođaja Tabela br.3. Modus i broj porođaja POROĐAJ PARTUS SC Ukupno PARITET Ukupno I II III IV V VI 56 33 13 3 1 1 107 52,33% 30,84% 12,15% 2,8% 0,94% 0,94% 74 % 20 14 3 1 52,63% 36,85% 7,9% 2,63% 0 0 76 47 16 4 1 1 52,41% 32,41% 11,03 2,46% 0,69% 0,69% Grafikon br. 4. Broj anomalija u odnosu na posmatrane godine 49 38 26% 145 Grafikon br. 5. Broj analiziranih anomalija u odnosu na zdravstvenu ustanovu Grafikon br. 6. Broj anomalija u odnosu na posmatrane godine 2010-2012. Grafikon br. 7 . Polna struktura 50 Tabela br. 4. Pol novorođenčadi u odnosu na zdravstvenu ustanovu POL GAK „Narodni front“ OB PANČEVO OB VRŠAC Ukupno Ukupno M Ž 1 3 4 25% 75% 2,8% 48 37 85 56,47% 43,53% 58,62% 43 13 56 76,78% 23,22% 38,62% 92 53 145 63,4% 36,6% 100% Tabela br. 5. Telesna masa i dužina novorođenčadi Mera Telesna masa Telesna dužina SD Min Max 3334 gr 533,33 1120 gr 4700 gr 51,32 cm 3,126 37 cm 57 cm Tabela br. 6. Telesna masa na rođenju Gr 1000-1500 1600-2000 2000-2500 2500-3000 3000-3500 3500-4000 4000-4500 ≥4500 Ukupno N % 2 1,38 0 0 6 4,14 22 15,17 57 39,31 45 31,03 11 7,59 2 1,38 145 100 51 Grafikon br 8. Gestacija prilikom porođaja Tabela br 7. Ukupan broj anomalija N % Kumulativ POSTNATALNO 114 78,6 78,6 PRENATALNO 31 21,4 100,0 Total 145 100,0 Grafikon br. 9. Ukupan broj anomalija 52 Tabela br. 8. Anomalije po godinama i zdr. Ustanovama Broj anomalija po godinama BOLNICA Ukupno 2010 2011 2012 GAK “Narodni front” 1 2 1 4 OB PANČEVO 32 26 27 85 OB VRŠAC 10 26 20 56 Ukupno 43 54 48 145 Tabela br. 9. Anomalije u odnosu na zdravstvene ustanove i vremenu dijagnoze Zdravstvena ustanova OTKRIVENO Ukupno POSTNATALNO PRENATALNO OB VRŠAC 53 3 56 OB PANČEVO 61 24 85 GAK “Narodni front” 0 4 4 Ukupno 114 31 145 Tabela br 10. Anomalije po vremenu dijagnoze, bolnici i posmatranim godinama OTKRIVENO 2010 POSTNATALNO BOLNICA 10 0 10 OB PANCEVO 20 12 32 Narodni front 0 1 1 30 13 43 OB VRŠAC 24 2 26 OB PANCEVO 17 9 26 Narodni front 0 2 2 41 13 54 OB VRŠAC 19 1 20 OB PANČEVO 24 3 27 Narodni front 0 1 1 43 5 48 OB VRSAC 53 3 56 OB PANCEVO 61 24 85 Narodni front 0 4 4 114 31 145 2011 2012 Total BOLNICA Total Total BOLNICA Total OB VRŠAC Total BOLNICA PRENATALNO Total 53 Grafikon br 10. Otkrivene anomalije u odnosu na sisteme Tabela br 11. Otkrivene anomalije u odnosu na sisteme Frequency Percent Valid Percent Abdomen 4 2,8 2,8 CNS 5 3,4 3,4 Skelet 30 20,0 20,0 GIT 2 1,4 1,4 Glava 3 2,1 2,1 Grudni koš 1 ,7 ,7 Hromozomopatija 2 1,4 1,4 Lice 9 6,2 6,2 Mozak 1 ,7 ,7 Multiple 2 1,4 1,4 Pluća 1 ,7 ,7 Srce 49 33,8 33,8 Genito - urinarni 36 24,8 24,8 Total 145 100,0 100,0 54 Tabela br. 12. Anomalije po sistemima i godinama SISTEM GODINE Total 2010 2011 2012 abdomen 1 1 2 4 CNS 1 2 2 5 ekstremiteti 10 9 11 30 GIT 1 1 0 2 glava 1 2 0 3 grudni koš 0 0 1 1 hromozomopatija 0 1 1 2 lice 2 2 5 9 mozak 0 1 0 1 multiple 1 1 0 2 pluća 1 0 0 1 srce 19 18 12 49 urinarni 6 16 14 36 Total 43 54 48 145 Grafikon br. 11. Anomalije po polu i zdravstvenim ustanovama 55 Tabela br 13. Anomalije po vremenu dijagnoze OTKRIVENO SISTEM Total POSTNATALNO PRENATALNO abdomen 2 2 4 CNS 4 1 5 ekstremiteti 29 1 30 GIT 2 0 2 glava 3 0 3 grudni koš 1 0 1 hromozomopatija 1 1 2 lice 8 1 9 mozak 1 0 1 multiple 1 1 2 pluća 1 0 1 srce 28 21 49 Genito-urinarni 33 3 36 Total 114 31 145 Tabela br. 14. Prikaz anomalija po sistemima, ustanovama i vremenu dijagnoze BOLNICA SISTEM ABDOMEN CNS EKSTREMITETI GIT GLAVA GRUDNI KOŠ HROMOZOMOPATIJA OB VRSAC OB PANCEVO Narodni front Total POSTNATALNO 2 0 2 PRENATALNO 0 2 2 Total 2 2 4 POSTNATALNO 4 4 PRENATALNO 1 1 Total 5 5 POSTNATALNO 15 14 29 PRENATALNO 0 1 1 Total 15 15 30 POSTNATALNO 1 1 2 Total 1 1 2 POSTNATALNO 2 1 3 Total 2 1 3 POSTNATALNO 1 1 Total 1 1 POSTNATALNO 1 0 1 PRENATALNO 0 1 1 Total 1 1 2 56 POSTNATALNO 8 8 PRENATALNO 1 1 Total 9 9 LICE MOZAK POSTNATALNO 1 1 Total 1 1 POSTNATALNO 1 0 1 PRENATALNO 0 1 1 Total 1 MULTIPLE PLUĆA 1 2 POSTNATALNO 1 1 Total 1 1 POSTNATALNO 6 22 28 PRENATALNO 0 21 21 Total 6 43 49 POSTNATALNO 23 10 33 SRCE URINARNI PRENATALNO 3 0 3 Total 26 10 36 POSTNATALNO 53 61 0 114 PRENATALNO 3 24 4 31 Total 56 85 4 145 TOTAL Tabela br. 15. Ishodi anomalija N % Umrlo 3 2,1 Institut za majku i dete, Beograd 7 4,8 Institut za neonatologiju, Beograd 2 1,4 Univerzitetska dečija klinika, Beograd 7 4,8 Savetovana kontrola kod nadležnog lekara specijaliste 126 86,9 Total 145 100,0 Tabela br. 16. Učestalost postnatanih anomalija u odnosu na zdr. Ustanovu Zdravstvena ustanova N % Kumulativ OB PANČEVO 61 53,5 53,5 OB VRŠAC 53 46,5 100,0 Total 114 100,0 57 Tabela br. 17. Postnatalne anomalije po godinama Godine N % Kumulativ 2010 30 26,3 26,3 2011 41 36,0 62,3 2012 43 37,7 100,0 Total 114 100,0 Grafikon br 12. Postnatalne anomalije u odnosu na pol Grafikon br. 13. Modus porođaja kod postnatalih anomalija Tabela br. 18. Apgar skor na rođenju postnatalno N % 5 1 ,9 6 1 ,9 7 1 ,9 8 4 3,5 9 50 43,9 10 57 50,0 Total 114 100,0 58 Tabela br. 19. Partitet postnatalno N % 1 57 50,0 2 38 33,3 3 12 10,5 4 4 3,5 5 1 ,9 6 1 ,9 Total 113 99,1 Tabela br. 20. Telesna masa i dužina novorođenčadi postnatalno SD Min Max 3335 gr 520,33 1350 gr 4700 gr 51,24 cm 3,01 40 cm 57 cm Mera Telesna masa Telesna dužina Grafikon br. 14. Postanatalne anomalije po sistemima 59 Tabela br. 21. Učestalost postnatalnih anomalija u odnosu na zdr. Ustanovu N % Kumulativ N FRONT 4 12,9 12,9 OB PANČEVO 24 77,4 90,3 OB VRŠAC 3 9,7 100,0 Total 31 100,0 Tabela br. 22. Prenatalne anomalije po godinama GODINA Frequency Percent Cumulative Percent 2010 13 41,9 41,9 2011 13 41,9 83,9 2012 5 16,1 100,0 Total 31 100,0 Grafikon br. 15. Prenatalne anomalije u odnosu na pol Grafikon br. 16. Modus porođaja kod prenatalnih anomalija 60 Tabela br. 23. Apgar skor na rođenju prenatalno N % Kumulativ 6 1 3,2 32,3 7 1 3,2 35,5 8 3 9,7 38,7 9 16 51,6 48,4 10 10 32,3 100,0 Total 31 100,0 Tabela br. 24. Partitet kod prenatalnih anomalija N % Kumulativ 1 18 58,1 58,1 2 9 29,0 87,1 3 4 12,9 100,0 Total 31 100,0 Tabela br. 25. Telesna masa i dužina novorođenčadi, prenatalno Mera X SD Min Max Telesna masa 3327 gr 587,6 1250 gr 4500 gr Telesna dužina 51,48cm 3,55 37 cm 55 cm Grafikon br 17. Prenatalne anomalije po sistemima 61 Grafikon br. 18. Anomalije OB Vršac po godinama Grafikon br. 19. Polna strukura anomalija OB Vršac Grafikon br. 20. Anomalije po vremenu dijagnoze OB Vršac Grafikon br. 21. Modus porođaja OB Vršac 62 Grafikon br. 22. Anomalije po sistemima OB Vršac Grafikon br. 23. Anomalije u OB Pančevo po godinama Grafikon br. 24 . Anomalije po vremenu dijagnoze OB Pančevo Grafikon br.25. Polna struktura anomalija OB Pančevo 63 Grafikon br. 26. Modus porođaja OB Pančevo Grafikon br. 27. Anomalije po sistemima OB Pančevo Tabela br. 26. Anomalije u GAK “Narodni front” God pol gn as modus TM TD Dijagnoza Sistem Ishod 2010 Ž 37 6 SC 2780 47 Gastroschisis abdomen Hirurg 2011 Ž 30 7 SC 1120 37 Gastroschisis. IUGR abdomen EX multiple hromozomopatija Genetika 2011 Ž 36 9 partus 2300 45 Atresio esophagi. Fistula trachoesophagealus susp. Sy L.down 2012 M 39 10 partus 2900 50 Sy L.down 64 GODINA * POL * SISTEM POL SISTEM abdomen CNS ekstremiteti GIT glava grudni koš hromozomopatija lice mozak multiple pluća srce urinarni Total M 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 Total 2010 2011 Total 2012 Total 2011 2012 Total 2010 2011 2012 Total 2011 Total 2010 2011 Total 2010 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total Ž 1 1 2 4 0 1 1 2 4 1 7 12 1 0 1 1 1 1 3 6 8 4 18 0 1 1 1 2 3 1 1 0 1 1 0 0 2 2 1 0 1 2 2 3 7 1 1 1 1 2 1 1 6 9 5 20 1 1 0 2 17 18 18 53 13 9 7 29 5 15 14 34 26 36 30 92 65 Total 1 1 2 4 1 2 2 5 10 9 11 30 1 1 2 1 2 3 1 1 1 1 2 2 2 5 9 1 1 1 1 2 1 1 19 18 12 49 6 16 14 36 43 54 48 145 GODINE * BOLNICA * SISTEM BOLNICA SISTEM ABDOMEN CNS EKSTREMITETI GIT GLAVA GRUDNI KOŠ HROMOZOMOPATIJA LICE MOZAK MULTIPLE PLUĆA SRCE URINARNI TOTAL 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 Total 2010 2011 Total 2012 Total 2011 2012 Total 2010 2011 2012 Total 2011 Total 2010 2011 Total 2010 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total OB VRSAC 0 0 2 2 OB PANCEVO Narodni front 1 1 0 2 1 2 2 5 5 5 5 15 1 0 15 1 0 1 5 4 6 15 0 1 15 0 2 2 1 1 1 0 1 0 1 1 2 2 5 9 1 1 1 0 1 0 1 1 1 1 17 15 11 43 4 2 4 10 32 26 27 85 2 3 1 6 2 14 10 26 10 26 20 56 66 1 2 1 4 Total 1 1 2 4 1 2 2 5 10 9 11 30 1 1 30 1 2 3 1 1 1 1 2 2 2 5 9 1 1 1 1 2 1 1 19 18 12 49 6 16 14 36 43 54 48 145 67 Ustanova OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 1986 1977 1990 1984 1986 1988 1987 1986 1977 1990 1987 1983 1982 1985 1980 1982 1992 1987 1985 1982 Godište 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 Datum Ž M M Ž M M M M M M M M Ž Ž Ž Ž Ž M M M Pol 40 40 40 37 40 39 40 40 40 38 38 40 40 40 37 40 39 40 40 40 GN 9 10 10 8 9 9 9 9 9 9 8 9 9 9 9 9 9 9 10 9 AS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS 1 1 1 2 1 1 2 2 2 3 1 2 PAR TUS SC 1 1 1 2 1 1 2 2 Paritet PARTUS PARTUS SC SC PARTUS PARTUS SC PARTUS Modus 3300 3100 3750 3800 3600 3800 3650 4000 2100 3450 3850 2700 2950 3100 3980 3300 3750 3350 2400 3600 TM 52 50 55 54 54 54 54 55 45 54 55 47 51 50 55 53 53 40 50 53 TD PRENATALNO PRENATALNO PRENATALNO VCC srce srce srce ASD/II, DAP, ST.A.PULM. I AO ASD srce ASD srce VSD PRENATALNO srce VCC PRENATALNO srce srce VSD ET REL ST ao I a PULM. SUSP KOARRKTATIONI PROTOK VSD, MUSCUL, DAP srce CNS urinarni VCC SPINA BIFIDA URETROHYDRONEPHROSIS urinarni lice HERNIA ING L.DEX lice urinarni URETRO HYDRONEPHROSIS L.DE.XpYELON DUPLEX PALATOSHISIS ekstremiteti HAEMANGIOMA CONG CRURIS L.DEX. CHEILOGNATOPALATOSCHISIS srce lice DEFORMATIO AURICULAE L.DEX. TORTICOLIS L.DEX. Paresis fac.l.dex VCC ekstremiteti ekstremiteti SYNDACTILIO DIG II-III PEDIS BIL POLYDACTILIA Sistem Anomalija PRENATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO Otkriveno TABELARNI PRIKAZ ANOMALIJA 2010. GODINA KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG OPERISANO UROLOG HIRURG PLAST UROLOG HIRURG IMDB Ishod 68 OB VRŠAC OB VRŠAC OB VRŠAC N FRONT 40 41 42 43 OB VRŠAC 33 OB VRŠAC OB PANČEVO 32 39 OB PANČEVO 31 OB VRŠAC OB PANČEVO 30 38 OB PANČEVO 29 OB VRŠAC OB PANČEVO 28 37 OB PANČEVO 27 OB VRŠAC OB PANČEVO 26 36 OB PANČEVO 25 OB VRŠAC OB PANČEVO 24 35 OB PANČEVO 23 OB VRŠAC OB PANČEVO 22 34 OB PANČEVO 21 1991 1987 1983 1981 1985 1993 1986 1993 1990 1972 1974 1976 1984 1971 1989 1987 1992 1981 1979 1984 1986 1988 1987 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 Ž M Ž Ž M M M Ž M M M M Ž Ž M Ž Ž M Ž M M Ž M 37 40 38 40 40 37 38 38 37 38 36 39 40 40 40 38 37 39 40 40 40 38 38 6 10 7 10 9 9 10 10 10 10 10 9 9 10 10 9 9 10 10 10 9 9 9 SC PARTUS SC SC PARTUS PARTUS SC PARTUS PARTUS PARTUS SC PARTUS SC SC SC SC SC PARTUS PARTUS SC PARTUS PARTUS PARTUS 1 3 1 3 2 2 1 1 1 3 2 1 1 1 1 3 1 1 2 2 3 1 2 2780 2550 2400 3450 3450 3300 4000 3100 2950 4250 3300 3140 3290 3200 3750 3710 3820 4500 3550 3500 3850 3050 3000 47 49 43 53 53 52 53 51 51 57 52 50 50 51 51 50 50 50 53 53 53 52 51 urinarni abdomen CRYPTORSHISMUS GASTROSCHISIS ekstremiteti PRENATALNO srce VSD.ASD. srce DEFORMATI EXTREMITAS. DEFORMATIO CRANI. urinarni CRYPTOSHISMUS L.SIN ekstremiteti VITIUM CORDIS CONG IN OBS multiple VCC. SY DOWN ekstremiteti SYNDACTILIA DIG III ET IV MANUS BILL TALIPES CALC. ekstremiteti Conjuctio digitorum pedis bill. Cephalohaemathoma par. L.dex. Traumaticam POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO ekstremiteti POLYDACTILIA urinarni HERNIA ING LDEX POSTNATALNO GIT ATRESIO ANI ekstremiteti POSTNATALNO srce VCC SUSP PES CALCAVALGUS SIN ET CALC DEX ekstremiteti POSTNATALNO POSTNATALNO POSTNATALNO PEV. CONG.BILL pluća KAH POSTNATALNO srce ASD srce srce srce srce srce PRENATALNO VCC VCC VSD, ST.VKS ASD, VSD, ST.A.PULM VCC POSTNATALNO PRENATALNO PRENATALNO PRENATALNO PRENATALNO PRENATALNO HIRURG UROLOG UDK IMD, EX UROLOG KARDIOLOG KARDIOLOG KARDIOLOG KARDIOLOG NEONATOLOGIJA BG KARDIOLOG KARDIOLOG IMD BGD 69 Ustanova OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 1976 1977 1874 1986 1986 1985 1989 1983 1985 1985 1984 1982 1981 1988 1984 1988 1992 1980 1983 1989 1990 1988 1983 Godište 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 Datum Ž Ž Ž M M Ž Ž M M Ž Ž M M Ž Ž Ž M M Ž M M M Ž Pol 40 40 40 39 39 39 40 40 40 39 40 38 39 38 39 38 38 38 40 40 40 37 40 GN 9 8 8 9 9 10 10 10 9 9 9 9 9 9 9 9 9 10 9 9 9 9 9 AS SC PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS Modus 1 2 1 2 1 2 1 1 1 1 3 1 1 4 1 2 2 1 4 2 1 2 1 Paritet 3100 3000 3550 3650 3450 3300 3800 3100 3500 2800 4700 2950 3150 3200 3050 2950 4200 4050 2600 3700 3300 4250 2950 TM 52 52 55 54 53 52 53 51 54 49 57 51 52 51 51 50 57 54 49 55 52 57 50 TD VCC srce srce ASD,VSD PRENATALNO srce ASD srce PRENATALNO VCC srce srce ASD, VSD, KORONARNA CA.FISTULA, DAP ASD srce srce VCC ASD, VSD, SUBAORTNI srce PRENATALNO PRENATALNO POSTNATALNO POSTNATALNO PRENATALNO PRENATALNO VCC srce VCC POSTNATALNO srce ASD POSTNATALNO ekstremiteti ekstremiteti POLYDACTILIA DIG PEDIS SIN. srce VCC lice lice RES CALEABEOVALYNS SIN (GIPS) TU SUBLINGNALIS ATRESIO CHOANAE L.SIN urinarni POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO AGENESIO RENI L.DEX urinarni HYPOSPADIO POSTNATALNO srce VCC ekstremiteti srce ekstremiteti ekstremiteti Sistem POSTNATALNO PEDES METATHARSOVARI BILL VCC OBS MALFORM.CONG.ALIAE PES VARUS GRAVIS L.SIN Anomalija POSTNATALNO PRENATALNO POSTNATALNO POSTNATALNO POSTNATALNO Otkriveno TABELARNI PRIKAZ ANOMALIJA 2011. GODINA UDK kardiolog kardiolog kardiolog UDK kardiolog kardiolog kardiolog IMD BG kardiolog kardiolog kardiolog IMD BG IMD BG urolog kardiolog kardiolog Ishod 70 OB PANČEVO OB PANČEVO OB PANČEVO OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 1977 1982 1974 1987 1996 1974 1987 1984 1988 1982 1986 1984 1992 1984 1979 1995 1983 1983 1980 1970 1986 1979 1988 1981 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 2011 M M M M M M M M M M M M M M M M Ž Ž Ž M M M Ž M 39 38 39 37 40 40 40 38 41 39 40 40 40 40 38 40 39 38 35 39 40 40 39 40 10 10 10 10 6 9 10 10 10 10 10 10 10 10 9 9 10 10 5 10 10 9 10 9 SC PARTUS PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC SC PARTUS PARTUS PARTUS PARTUS 2 1 3 1 1 5 2 1 2 1 6 2 1 2 1 1 1 4 2 2 3 2 1 3550 3650 3500 4700 3150 3200 3050 2950 4200 4050 2600 3700 2950 4500 3550 3500 3980 3750 1350 3600 3650 3310 3330 3500 55 54 54 57 52 51 51 50 57 54 49 55 50 50 53 53 55 53 40 53 50 50 49 54 POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO urinarni HYPOSPADIA GLANDIS. ICTERUS NEONATI srce ICTERUS NEONATI VSD muskularni, ASD tip FOA srce ekstremiteti METATARSUS VARUS BIL. CAPUT SUCEDANEUM PART. VSD MUSCULANS. ASD TIP SEC urinarni urinarni ekstremiteti ekstremiteti urinarni abdomen HYPOSPADIA GLANDIS CRYPTORSCHISMUS BILL PES METATARSUS BILL PES METATARSUS BILL HYPOSPADIO GLANDIS ATRESIO RECTO CONGENITALIS urinarni CRYPTODISMUS BILL POSTNATALNO urinarni HYPOSPADIO GLANDIS urinarni urinarni urinarni urolog urolog urolog urolog hromozomopatija urinarni UDK EX hirurg kardiolog urinarni mozak POSTNATALNO HYPOSPADIO GLANDIS HYPOSPADIO GLANDIS CRYPTODISMUS L.DEX HYPOSPADIA SY L.DOWN SUSP HYDRONEPHROSIS L.DEX ANENCEPHALIA ekstremiteti abdomen HAEMANGIOMA SUPRAAURICU.L.DEX METATARSUS VARUS BIL CNS CNS srce SPINA BIFIDA HYDROCEPHALUS VCC. STIGMATA DEGENEROTIONES POSTNATALNO POSTNATALNO POSTNATALNO PRENATALNO POSTNATALNO POSTNATALNO PRENATALNO POSTNATALNO POSTNATALNO POSTNATALNO PRENATALNO POSTNATALNO PRENATALNO 71 OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC N FRONT N FRONT 48 49 50 51 52 53 54 1982 1983 1989 1997 1985 1980 1990 2011 2011 2011 2011 2011 2011 2011 Ž Ž M M M M M 36 30 40 40 37 37 40 9 7 10 10 10 10 9 PARTUS SC PARTUS PARTUS PARTUS PARTUS SC 1 2 1 3 3 1 2 2300 1120 2850 3100 3500 3100 3000 45 37 50 51 54 52 52 PRENATALNO PRENATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO abdomen multiple ATRESIO ESOPHAGI. FISTULA TRACHOESOPHAGEALUS SUSP. sY L.DOWN srce urinarni GASTROSCHISIS. IUZR VSD/ASD CRYPTORSHISMUS urinarni urinarni HYDRONEPHROSIS CONG.L.DEX. TU SCROLATIS DEX CONG glava AGENESIO AURICULAE AURIS DEX. ASIMETRIA FACEI. ICTERUS NEONATI EX 72 OB PANČEVO OB PANČEVO OB PANČEVO 19 20 OB PANČEVO 12 18 OB PANČEVO 11 OB PANČEVO OB PANČEVO 10 17 OB PANČEVO 9 OB PANČEVO OB PANČEVO 8 16 OB PANČEVO 7 OB PANČEVO OB PANČEVO 6 15 OB PANČEVO 5 OB PANČEVO OB PANČEVO 4 OB PANČEVO OB PANČEVO 3 13 OB PANČEVO 2 14 OB PANČEVO 1 Ustanova 2012 2012 2012 1990 1981 1988 1984 2012 2012 2012 1985 1987 2012 2012 1981 2012 1981 1975 2012 2012 1986 1978 2012 1981 2012 2012 1988 1979 2012 2012 1986 1970 2012 2012 2012 2012 Datum 1978 1987 1976 1983 Godište M M M M Ž M M M M M Ž Ž Ž Ž Ž Ž M Ž Ž M Pol 40 38 38 39 39 38 41 39 41 41 38 39 39 39 39 39 38 41 40 37 GN 10 10 9 9 9 9 10 10 9 9 9 9 9 9 9 9 8 9 9 9 AS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC SC PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS Modus 1 2 2 2 1 1 1 2 1 4 1 1 1 1 3 2 2 1 1 1 Paritet 2890 3320 3310 3330 3500 3100 3280 3550 3650 3430 3380 3310 3330 3500 3100 2990 3550 3450 3450 3120 TM 49 50 51 51 51 50 50 50 49 49 49 52 50 51 50 49 50 50 48 48 TD ekstremiteti lice lice POLYDACTILIA L.DEX. HAEMANGIOMA CONG. CAPISTIS ET FACEI L.SIN CHELIOPALATOGNATOSCHISIS urinarni urinarni srce srce HYPOSPADIA VSD ASD, SUSP L.DOWN. FOA. REL ST.A. PULM POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO HERNIA ING.L.DEX lice urinarni ekstremiteti urinarni ekstremiteti SCHISIS PALATIS SEC TOTALIS HERNIA ING.L.DEX PEV BILL HYPOSPADIA ekstremiteti lice ATRESIO MEATI AC EXT L.DEX.CONG POLYDACTILIA L.SIN CNS ekstremiteti srce SPINA BIFIDA PES CALCANEOVALGUS DEX VCC SUSP srce lice VCC SUSP CNS SPINA BIFIDA Sistem HAEMANGIOMA NA..ET LABII ORIS SUSP CONG. HAEMATHOMA CUTIS DEG. THOROCIS ANT Anomalija PED CALE POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO PRENATALNO PRENATALNO PRENATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO Otkriveno TABELARNI PRIKAZ ANOMALIJA 2012 Ishod 73 OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC 23 24 25 26 27 28 29 30 31 OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC 40 41 42 43 44 OB VRŠAC 37 OB VRŠAC OB VRŠAC 36 38 OB VRŠAC 35 39 OB VRŠAC OB VRŠAC 33 34 OB VRŠAC OB PANČEVO 22 32 OB PANČEVO 21 1977 1981 1984 1989 1980 1983 1980 1976 1981 1986 1994 1989 1983 1978 1981 1996 1978 1976 1977 1979 1980 1980 1984 1985 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 M Ž M M M M M M M Ž Ž 3 M M Ž M M M Ž Ž M M M M 38 37 40 39 40 37 39 40 40 37 39 39 39 39 37 39 37 39 39 40 40 40 40 40 10 10 10 10 10 10 10 10 10 8 9 10 10 10 10 10 10 9 10 9 10 10 10 10 PARTUS PARTUS SC PARTUS SC PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS SC PARTUS SC SC PARTUS PARTUS SC PARTUS SC 3 1 3050 3000 3100 3750 1 2 3800 3600 1 2 3800 3650 3 1 4000 2100 3450 3850 2700 2950 3100 3300 2400 2950 3330 3500 3120 3480 3320 2790 2 1 1 2 2 1 3 1 2 1 2 2 1 1 1 2 52 51 50 55 54 54 54 54 55 45 54 55 47 51 50 53 50 48 50 50 50 50 49 49 srce ASD I (ASD II). AV CANALIS PARTIALIS POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO urinarni srce HYPOSPADIA PENOSEROTALIS urinarni MALFORMATIONIS SEPTI CORDIS CONG urinarni urinarni CRYPTORSCHISMUS L.DEX CRYPTORSCHISMUS L.DEX CRYPTORSCHISMUS L.DEX urinarni urinarni HYPOSPADIA GLANDIS CRYPTORCHISMUS L.DEX POSTNATALNO urinarni AGENESIO RENIS IN OBS urinarni ekstremiteti ekstremiteti ekstremiteti PRENATALNO HYPOSPADDIA GLANDIS DEFORM. MANUS DEX. IUGR PES EQUINOVARUS L.DEX. PES EQUINOVARUS L.DEX. urinarni ekstremiteti SYNDACTILIA DIG ii ET III MANUS SIN HYPOSPADIA CORPORIS PENIS abdomen urinarni grudni koš srce srce srce HERNIA ABD CRYPTORCHISMUS L.SIN PECTUS EXCAVATUM ASD I ST.AO ASD GEM II VCC srce srce ASD.VSD. PERIMEMBR. ST.A.PUL.AGENESIO RENIS DEX VCC srce ASD.VSD.ST AO. ST.A.PULM POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO POSTNATALNO IMD IMDB UDK UDK 74 OB VRŠAC OB VRŠAC OB VRŠAC N FRONT 45 46 47 48 1981 1979 1981 1976 2012 2012 2012 2012 M Ž Ž Ž 39 36 39 40 10 10 8 10 PARTUS PARTUS SC PARTUS 1 1 2 3 2900 2800 3300 3850 50 49 52 53 PRENATALNO POSTNATALNO POSTNATALNO POSTNATALNO SY L.DOWN hromozomopatija abdomen ekstremiteti POLYSINDACTILIA PED MANUS BILL HERNIA ABD ekstremiteti DIGITUS MANUS ACCESER.L.SIN INTRODUCTION About the project The project “Development of a cross-border system of regional centres of medical excellence specialized in the prenatal diagnosis of foetal malformations in the Timisoara-Vars Area” under the IPA Cross Border Cooperation Programme was funded by the European Union, with over 1.7 million EUR. The project which was implemented through a partnership of the City Council of Timisoara, Timisoara hospital and Gynaecology and Obstetrics Department of the General Hospital Vršac foresees the improvement of the infrastructure of health services in the border region of Romania and Serbia, as well as increasing the level of health institutions in the region. In Vršac, Gynecology and obstetrics ward of the General Hospital will be modernized by building operating theatres, modernizing clinic and procuring modern equipment. As part of the project the quality of health care of the population that is located in the border region will be raised; the level of service and know-how of doctors involved in prenatal diagnosis of congenital anomalies will be raised; a focus will be put on their education at all levels of prenatal diagnostics and screening - more than 60 physicians are included in training in this field, and the final result is this publication of the available data on the incidence and types of congenital anomalies in the South Banat region, as well as the Timisoara - Vršac border region. More than 800 women will benefit from specialized medical care through organised centers for prenatal diagnosis, and at least 5,000 women will be informed about the risk factors that may affect the development of congenital anomalies. In addition to economic and social benefits that are a direct result of the project, specialist doctors who participate in this project will also influence the future of new generations. Overview of the commonest congenital anomalies Caring for children begins before their birth. The fear of the occurrence of foetal anomalies, present in every pregnant woman, is not without a rational basis. Congenital anomalies occur in 3 to 4% of newborn children, and are significantly more common in spontaneous abortion and intrauterine foetal death. Half of these anomalies are of such nature that leads to death or substantially disrupts life after birth, which points to the grave importance of accurate and timely diagnosis and treatment of congenital anomalies for the individual and for the society. Advances in foetal medicine, which occurred for the most part due to the introduction of ultrasound technology in recent decades, have imposed new requirements to those who care about the health of the foetus and the mother. Numerous findings about 75 the etiology and pathophysiology of congenital anomalies, as well as technological advances, have led to new methods in diagnosing and treating congenital disorders of the foetus. The particularity of the application of these methods requires multidisciplinary diagnosis and therapy. Application of the new method requires the purchase of new technologies, and training for its implementation. The anomalies of the central nervous system Malformations of the central nervous system (CNS) are among the most severe and the commonest congenital disorders, with a prevalence of 1/100 - 1/500 newborns. Spontaneous miscarriages are significantly more common with these malformations, so that the prevalence in early pregnancy is several times higher. Ventriculomegaly indicates dilated cerebral ventricles regardless of the degree and etiology of this magnification. Hydrocephalus is a term that denotes a severe degree of ventriculomegaly and indicates to obstructive etiology. It can occur separately (borderline ventriculomegaly, stenosis aqueductusa cerebri s. Sylvii ), or as other CNS malformations and neural tube defects - holoprosencephaly, lissencephaly, Dandy-Walker complex, arachnoid cysts, agenesis of the corpus callosum, intracranial hemorrhage, porencephaly, vascular malformations, schizencephaly, cephalocoele, microcephaly, spina bifida and others. Ventriculomegaly may be associated with malformations of other organs and systems, often as part of the syndrome chromosomal aberrations, congenital infections. Holoprosencephaly is a genetically and phenotypically heterogeneous disorder characterized by defective development of the basal forebrain, i.e. incomplete division of the cerebral hemispheres and associated structures. In addition to the CNS malformations, malformations of the middle part of the face are almost always present - forehead, nose, orbit, the premaxilla and the upper lip. The cause is common - a disorder in the development of the prechordial mesenchymal tissue, which normally forms the central part of the face and which induces the development of the prozencephalon as per division to hemiferes. There are three types of holoprosencephaly - allobar, semi-lobar and lobar. Dandy-Walker syndrome includes an enlarged cisterna magna, cystic dilatation of the fourth ventricle, a defect in the cerebellar vermis through which the cisterna magna communicates with the fourth chamber and ventriculomegaly of varying degrees. The syndrome includes Dandy-Walkermalformation (enlarged posterior fossa, complete or partial agenesis of the cerebellar vermis, the high position of tentorium), DandyWalker variant (Variable hypoplasia of the cerebellar vermis, with or without the enlargement of the posterior fossa) and mega cisterna magna (Enlarged cisterna magna with preserved integrity of the vermis and the fourth chamber). 76 Agenesis of the corpus callosum (ACC) is a complete or partial absence of the corpus callosum, and can be complete and partial. This anomaly is associated with varying degrees of disorders of other intracranial structures. Lissencephaly is a series of states in which the greater part of the cerebral cortex is smooth, with no folds. With agyria, these conditions may involve a reduction in the number of folds of the cerebral cortex, the so-called pachygyria. This is a rare anomaly of the CNS due to a disorder of neuronal migration, which leads to a significant reduction or absence of folds of the cerebral cortex i.e. gyrus. Schizencephaly is a congenital disorder seen as a cleft along the entire depth of the grey matter, between the subarachnoid space and the lateral ventricles. The clefts can be unilateral or, more usually, bilateral, symmetrical or asymmetrical. The fissure is characteristically over-covered with the grey brain mass. Arachnoid cysts formed by accumulation of fluid similar to cerebrospinal fluid between the meninges. They can be localized in the subarachnoid space anywhere within the skull or the spinal canal. They are very rare and constitute about 1% of all the pathological findings in the brain. Primary (congenital) ones are more frequent. They are thought to have occurred as a result of improper development of the leptomeningea and where there is no unbroken communication with the subarachnoid space. Secondary (acquired) cysts are less common, and they occur as a result of haemorrhage, trauma or infection and those that often have communication with the subarachnoid space. Choroid plexus cysts are cysts that are located in the choroid plexus of the lateral ventricles. They are usually larger than 2 mm in diameter. For the most part the findings are benign and transitory commonest benign and transitory findings. They are found in approximately 2% of foetuses in the 20th week of gestation, but are lost before the 26th week of in more than 90% of the cases. Intracranial hemorrhage (ICH) involves bleeding at any point within the skull, and usually occurs postnatally with premature infants, although it can occur antenatally, usually in the third, and sometimes also in the second trimester. Subdural hematomas are manifested as echogenic or mixed shadows directly beneath the bones of the skull, causing displacement and distortion of brain tissue. With subdural hematoma, and with IVH third and fourth degrees, the Doppler registers pulsatile MCA index, as a result of the increased intracranial pressure. higher values of Porencephaly is a term which refers to larger defects in the brain that communicate with the chamber system. Their size increases in the direction of the chamber towards the subarachnoid space. These cavities are usually one-sided and lined with white mass. Porencephaly, unlike schizencephaly, is not a migration disorder. Hydranencephaly is a complete lack of brain hemispheres and complete or partial lack of falx cerebri. Within normally formed skull bones there is the meningeal sac filled with cerebrospinal fluid, wherein the brain stem and basal ganglia protrude. Its 77 etiology is usually associated with ischemic brain tissue induced by occlusion of the carotid arteries. Microcephaly translates as “little head”. It can be expressed as different pathological entities in which cerebrum is affected (holoprosencephaly, lissencephaly, porencephaly, cephalocela etc.). If it occurs isolated, as a separate entity, it is considered to be a consequence of disorders in proliferation of nerve cells. The disorder is most pronounced in the frontal lobe. Aneurysm of the vein of Galen is arteriovenous malformation of the CNS. Less frequently, the present one afferent artery is present, and more frequently a number of them are present, originating from the vertebrobasilar or carotidal system. They are drained through the vein of Galen into the transverse sinus and other large venous sinuses. Aneurysm of the vein of Galen is located behind the thalamus in its own subarachnoid cistern. The prevalence is unknown. Anomalies of the chest Diaphragmatic hernia is a term which describes herniation of the contents of the abdominal cavity into the chest through a defect in the diaphragm. The very defect in the diaphragm has been there since the first trimester, but herniation into the chest does not occur in about half of cases until the 24th week of gestation, which can complicate the early detection of this disorder. The incidence of the diaphragmatic hernia in live births is about 1/2,500-4,000. Cystic adenomatoid malformation (CAM) of lungs is a developmental anomaly is due to the excessive growth of terminal respiratory bronchioles. This condition can be bilateral or unilateral, and can even affect the lung or only a part of it. Pleural effusion is a collection of fluid in the pleural space and can be a part of non-immune or immune hydrops foetalis; foetal structural anomalies and genetic syndromes or, more rarely, an isolated finding. The incidence of the isolated effusion is 1 in 10-15000 pregnancies. A possible cause of this disorder can be congenital chylothorax, anemia, chromosomal abnormalities, viral infection, abnormalities of the lungs, gastrointestinal tract, heart, neoplasma, metabolic disorders, abnormalities of the placenta and umbilical cord, or it often happens that in spite of all performed tests one can never come to defining the cause . Sequestration of lungs is a developmental anomaly in which one segment of dysfunctional pulmonal tissue is isolated from normal lung tissue. This part usually does not communicate with the respiratory tract, and the blood supply comes from the systemic circulation, not from the pulmonary artery. Sequestered lung tissue may be located within the lung tissue, where it is covered by the pleura (intralobar sequestration) or can have its own pleura (extralobar sequestration, which is located in about a quarter of all cases). 78 Bronchogenic cysts are rare congenital anomalies which are the result of pathological development of the tracheobronchial tree, lined with respiratory columnar epithelium which secretes mucus and may be filled. They can be of different sizes. Anomalies of the neural tubes Acrania is the lack of bony vault of the skull with a relatively normal amount of brain tissue that is improperly developed. Apart from the lack of the cranial vault, anencephaly is also characterized by and the lack of brain hemispheres, which are replaced by a mass of vascular channels (area cerebrovasculosa). Anencephaly, along with spina bifida is the commonest neural tube defect. The frequency varies in different parts of the world, the largest being among the people of Celtic origin, and is approximately 1/1000 of live births. It is more common in female than in male children in the ratio of 4 to 1. Anencephaly can be found within the Meckel-Gruber syndrome when the risk of recurrence is 25%. Cephaloceles are herniation of intracranial structures through a medial defect in the skull. The prevalence of cephalocele is 2/10,000. Cephaloceles normally vary according to the contents of the hernia and location of the bone defect. Depending on whether they contain only the meninges, brain tissue and/or lateral ventricles, we can differ: meningocele, encephalomeningocele and encephalomeningocystocele. Spina bifida is a defect of the spinal vertebra which reaches the neural canal. Of all the DNCs, spina bifida has the highest prevalence - 1/1000. The defect is most frequently located dorsally on the vertebrae and usually in the lumbosacral or thoracolumbar region. Much less frequently it is localized on the vertebral body, and usually on the lower cervical or upper thoracic vertebrae. Spina bifida occulta is a less common type, which is characterized by smaller dorsal defect which is completely covered by skin. Spina bifida aperta is a more common type, occurring in 85% of cases. It is characterized by the fact that the neural canal can be completely open or covered by only a thin layer of meningeal membrane (memingocele / myelomeningocele). Facial anomalies Microphthalmia is a reduction of the size of the eyeball, and anophthalmia is the absence of the eye, optic nerve, chiasma and tract. Nanophtalmia is fully formed eye of a smaller size. Prenatally, it is very difficult to make a distinction between anophthalmia and microphthalmia - true anophthalmia is a complete absence of the eyeball in the orbit, either unilaterally or bilaterally. Proboscis is the growth on the site of the nose /instead of the nose and is almost always part of holoprosencephaly (cyclopia, cebocephaly, etmocephaly, median cleft). Proboscis is often found in chromosomal defects - trisomy 13 and 18, and as a result of radiation. A possible etiological factor is also maternal diabetes. 79 Cleft lip and/or palate (Chelioschisis/cheliopalatognatoschisis) are the commonest congenital anomalies of the face that can be seen at birth, resulting in non-union processus frontalis and maxillaris during the embryogenesis. It occurs in about 1/1000 live births, while the isolated cleft palate occurs in about 5/1000 live births, more often in boys. This defect occurs in over 100 known syndromes, in about 60% of trisomy 13, 30% of triploidy, 15% for trisomy 18 and 1% of trisomy 21. In cases where they are not part of the syndrome, etiologically, they are probably the result of a combination of many factors of environmental influences and genetic factors. Micrognathia is the name for a small, receding chin and a nonspecific finding in many genetic syndromes and chromosomal defects, of which the commonest trisomy 18 about half of the foetuses with trisomy 18 have prenatally diagnosed micrognathia, while the autopsy findings micrognathia seen in 80% of cases, which means that only a very pronounced cases diagnosed prenatally. The cross-section of the face for the examination of the profile, the chin is pulled in, and in the coronal cross-section the chin is not flush with the tip of the nose and forehead. Anomalies of the anterior abdominal wall Omphalocela represents herniated contents of the abdominal cavity into the base of the umbilical cord. It occurs due to a lack of fusion of lateral ecto/mezoderm folds. The contents of the hernia sack are always small intestine, and variations include liver and stomach, spleen, colon and gonads. It is covered with amnioperitoneal membrane, and the umbilical cord is at its apex. Bladder extrophy is an anomaly of the anterior abdominal wall which is a result of the defect caudal folds of the anterior abdominal wall. Small defect leads only to epispadia, whereas larger defects lead to exposure of the posterior wall of the bladder. The incidence of bladder exstrophy is about 1 in live births 25-50,000, (3 times more often in boys), cloacal exstrophy and 1 in 200,000. With the cloacal extrophy, anomalies are on the urinary, gastrointestinal and genital tract. Abnormalities of the skeleton Skeletal dysplasia constitute a large heterogeneous group of genetically conditioned states, which are characterised by abnormal shape, growth and integrity of bones, with different forms of inheritance, manifestation, treatment and prognosis. Achondrogenesis represents lethal dysplasia. We distinguish - type IA lethal achondrogenesis Houston-Harris - makes up 20% of all cases of achondrogenesis, which is inherited in an autosomal recessive way. The gene locus is unknown. It represents the severest form of disease and is manifested in radiography as poor ossification of the spine and pelvis, resulting in still birth or early death. 80 Achondroplasia is a defect in the formation of cartilage, includes micromelia rizomelica in association with frontal bossing (frontal embossing) and low nasal ridge (depression of the nasal ridge). The incidence is 0.5-1.5 / 10,000 newborns. Arthrogryposis represents a heterogeneous set of states participating in limiting movements and ankylosis, i.e. it represents a reduced intrauterine mobility as a consequence of either disorders of the nervous, muscle or connective tissues or is of infectious origin. Campomelic dysplasia is a congenital disease that is manifested as an abnormal bowing of the long bones, in particular the lower limbs, of the femur and tibia. Osteogenesis imperfecta represents a heterogeneous group of genetic disorders that are characterized by: severe bone fragility, abnormal ossification and multiple fractures. Thanatophoric dysplasia represents a lethal congenital form of chondrodysplasia of the short extremities. It is manifested as two types: Type I - it is manifested as extreme rizomelia, bowed long bones, narrow thorax, a relatively large head, normal length of the torso and the absence of clover shaped skull. The spinal column is characterized by flat-plate-vertebrae; the cranium has a short base; often the foramen magnum is smaller in size; protruding forehead, hypertelorism, and there is a depression of the nasal ridge. Hands and feet are of normal size but the fingers are short. Type II - is manifested as a short, flat and long bones, and the skull is shaped as clover. Heart anomalies Congenital heart defects (CHD) are the commonest congenital anomalies. Their incidence is about 1%, and account for about 20% of all congenital anomalies. Foetal echocardiography is the only diagnostic method for prenatal diagnosis of CHD. The sensitivity of this method is very high, ranging from 78-93.9%, and specificity of 98.699.9%. Ventricular septal defect (VSD) is a defect in the septum between the left and right ventricle and is the commonest congenital heart defect. It occurs as an isolated lesion, or combined with others, within complex anomalies. Isolated VSD accounts for 20-30% of all congenital heart defects, and the incidence is even higher if defects are factored in as part of complex defects. Atrio-ventricular (AV) canal is complex structural heart defect that occurs due to disturbances in the development of endocardial cushions. The incidence is 2-7% of all the CHD. Complete form of the disease includes the anomaly of the AV valve (valve joined to a number of valves) atrial septal defect (ASD) of ostium primum type and ventricular septal defect in the inlet interventricular part of the septum. Partial AV channel is characterized by separate annulus of the mitral and tricuspid valve, ASD (ostium primum type) and “cleft” in the mitral valve. 81 Stenosis of the pulmonary arteriae - The incidence of this anomaly is approximately 5-8% of all CHD (incidence is similar prenatally). It rarely leads to heart failure of the foetus, although it is often accompanied by changes in the size of the right ventricle and right atrium, especially when associated with tricuspid insufficiency. The failure is evolving. During pregnancy the stenotic pulmonary valve may be completely closed and develop pulmonary atresia, which is a lot rarer anomaly. Coarctation of the aorta CHD is manifested as the narrowing of the isthmic part of the aorta. It may be isolated or associated with other anomalies, most commonly with the aortic valve stenosis and/or ventricular septal defect. It is often part of hypoplastic left heart syndrome. Since prenatal diagnosis is relatively difficult, the incidence of coarctation of the aorta in the foetus is lower than the postnatal (4% of all CHD prenatally, postnatally 8-10%). Hypoplastic left heart syndrome (HLHS) represents a spectrum of congenital heart defects ranging from critical aortic stenosis with the almost normal size of the left ventricle and mitral valve, to the most severe forms of atresia of mitral and aortic valves, with non-existent or very hypoplastic left ventricle. It is one of the severest heart defects, and the commonest cause of death in infants with CHD. Tetralogy of Fallot is a complex structural abnormality of the heart, the base of which is ventricular septal defect with anterosuperior deviation of the septum, which causes a narrowing of the outflow tract of the right ventricle and the pulmonary artery and ‘riding’ the aorta above the rudiments of the septum. Tetralogy of Fallot is the commonest cyanogen CHD, accounting for 10% of all CHD (incidence is similar prenatally). Transposition of the great arteries (a common abbreviation is TGA) is a structural anomaly ventriculoarterial connection, wherein during embryogenesis occurred an incorrect assembly of the right ventricle to the aorta and the left ventricle to the pulmonary artery. Tumors of the heart are very rare in the foetus and newborn children; 90% of all tumours of the heart, according to the histological structure are benign, but can be “malignant” by its location, i.e. can lead to the development of heart failure, hydrops, severe tachyarrhythmias or obstruction of some of the valves. In children and adults, the incidence of tumours of the heart is 1: 10,000 patients. In the foetus, this incidence is much higher (up to 0.14%), due to easy visualization of the tumourous mass during a routine ultrasound examination. Heart failure is the condition of insufficient minute volume, which causes inadequate tissue perfusion, and is accompanied by the increased venous pressure. For a long time the concept of heart failure in the foetus was equated with the concept of hydrops foetalis. Today it is known that heart failure can manifest itself without hydrops, and vice versa, that non-immunological hydrops foetalis cannot exist without the expressed cardiac insufficiency. 82 Anomalies in the foetal neck Nuchal translucency and screening chromosomal abnormalities Targeted review of nuchal part in the first trimester of pregnancy bears special significance. It is part of a non-invasive screening for chromosomal defects, in which the nuchal translucency (NT) is measured - ultrasound imaging of the subcutaneous space behind the foetal neck. We use the term translucency in the first trimester, regardless of the appearance of the change (septate or nonseptate) and its limitations (only the foetal neck or the entire foetus). During the second and third trimesters of pregnancy, abnormal accumulation of fluid in this region can be classified as nuchal cystic hygroma or edema. Increased NT is frequently seen with chromosomal abnormalities, mainly trisomy 21, then with Turner’s syndrome, trisomy 18, and in a number of foetal anomalies and genetic syndromes. Besides increased nuchal translucency thickness being a common phenotypic finding of trisomy 21 and other chromosomal abnormalities, it is associated with foetal death and a wide range of structural foetal anomalies, deformations, dysgeneses and rare genetic syndromes. Nuchal edema represents a pathological accumulation of fluid in the nuchal region, which is diagnosed in the second and third trimesters of pregnancy. Etiologically, nuchal edema may be related to chromosomal defects, cardiovascular and pulmonary abnormalities of the foetus, skeletal dysplasia, congenital infection and metabolic disorders. Pathophysiologically, usually it is a disorder in the drainage of lymph fluid, but the cause may be congestion due to congenital heart defects, some hematologic disorders and the like. Cystic hygroma is the commonest anomaly of the neck, probably due to a defect in the formation of lymphatic vessels. Cystic hygroma have a high incidence of chromosomal disorders (72%), heart anomalies and hydrops. The commonest chromosomal abnormality is Turner’s syndrome, which occurs in 75% of cases, whereas trisomy 18 is seen in 5%, and trisomy 21 in 5%. More than a quarter of the foetuses have a normal karyotype. The main abnormality of the heart, which is located in the foetus with cystic hygroma is coarctation of the aorta and can be found in up to 48% of foetuses with Turner’s syndrome. Hydrops foetalis is seen in up to 68% of foetuses with Turner’s syndrome. Cephaloceles represent the protrusion of the meninges and/or of the brain tissue through a defect in the cranium and in 80% of cases they occur in the occipital region. Abnormality is the consequence of the incomplete closure of the anterior neuropora, which leads to a defect of the medial line of the skull, which is associated with herniation of the meninges (meningocele) or brain tissue (encephalocele) through the defect. This paper presents a number of different cephalocele types. Meningocele - neural tube defects are rare in the neck and in the literature there are few published cases. Although it is much less common than the cystic hygroma 83 and cephalocele, cervical meningomyelocele can be presented as a posterior mass on the neck. It is usually located in the midline dorsum of the neck and often of cystic structure. A typical layout is similar meningomyelocele elsewhere in the spine, with the expansion of the posterior elements of the spine, associated with a meningomyelocele sac. Goiter - a massively increased thyroidea, may be associated with different maternal thyroid status, but is most commonly caused by antithyroid drug treatment of maternal thyrotoxicosis. Antithyroid agents can easily pass the placenta and if this happens during the period of foetal thyroidea development in 10th to 16th weeks of gestation, it can lead to foetal hypothyroidism and goiter. Renal anomalies Renal agenesis is the lack of development of the kidney and may be unilateral and bilateral. Bilateral form is usually isolated and sporadic, but could also be a part of a chromosomal defect or genetic syndrome. Polycystic kidney represents an autosomal recessive disorder characterized by the absence of normal renal parenchyma, instead which there is a dilated tubular system. This condition can also affect liver and kidneys, and in severe cases, can have a lethal outcome. According to the time of occurrence, it can be divided into the infantile, juvenile and adult types. The liver is often more affected in the types that occur later on. Multicystic kidneys are a congenital kidney dysplasia characterized by large inhomogeneous cysts, the result of the tubular system dilation. This disorder of growth failure in kidney may occur on one part of the kidney, on one or both kidneys, yet, affection of one kidney is the commonest. Its prevalence is about 1/1,000 5,000 births and is the commonest cystic renal anomaly in the newborn. Multicystic kidneys are usually sporadic findings, but there are data that may occur in certain families, and maternal diabetes increases the risk of developing this disease. Hydronephrosis is a dilatation of the renal pelvis with the urine - a diagnosis is made when the anteroposterior pelvic diameter exceeds 4 mm before the 27th week of gestation, or more than 7 mm after the 28th week. This change represents for the most part a prenatally detected anomaly, and occurs in about 0.17 to 2.3% of deliveries. Hydronephrosis is most often the result of obstruction on the level of ureteropelvic junction, then the vesicoureteral reflux, and rarely ureteral stenoses and other lower urinary tract obstructions. Obstruction at the level of ureteropelvic junction is more common in males, while she’s on the level of ureterovesical junction is more frequent in girls. Posterior urethral valves are membranous structures in the posterior urethra in the male foetuses which result in the urinary tract obstruction. Regarding this disorder there is usually an incomplete or intermittent obstruction of the urethra, which 84 results in enlarged and hypertrophied bladder with varying degrees of hydrourether, oligohydramnios and pulmonary hypoplasia. In some cases it may be associated with urinary ascites as a result of rupture of the bladder or urine transudation into the peritoneal cavity. Ovarian Cysts are, in almost all cases, benign tumours that may disappear spontaneously after birth, and rarely require surgical treatment. Their incidence is about 1/2,500 - 1/3,000 of pregnancies. 85 OBJECTIVES The overall objectives of the research included: - The formation of databases on prenatally and postnatally diagnosed anomalies in the region of South Banat - The processing of the data on prenatally and postnatally diagnosed anomalies in the region of South Banat - Preparing reports regarding the research Specific research objectives included: - establishing the incidence of anomalies and chromosomal abnormalities in the region of South Banat - obtaining insight into the major risk factors for the development of congenital anomalies in the region of South Banat - establishing prenatal detection rates of the most common morphological anomalies and chromosomal abnormalities - obtaining insight into the monitoring of pregnancy and postnatal outcomes of pregnancies with prenatally diagnosed anomalies and chromosomal abnormalities - raising awareness about the necessary actions aimed at reducing the risk of developing congenital anomalies and chromosomal abnormalities 86 MATERIAL AND METHODOLOGY Research activities were done in order to provide reports on the frequency of chromosomal abnormalities and the most common risk factors for their occurrence in South Banat included: (1) obtaining relevant information from the Vršac hospital on all health care services involved in the health care of women and children, including the health care during pregnancy and delivery, as well as services for genetic testing, histopathology, forensic medicine and private practices (2) designing the forms to register the anomalies in - individual registration forms for prenatally diagnosed anomalies and chromosomal abnormalities (Appendix 1) - individual registration forms for postnatally diagnosed anomalies and chromosomal abnormalities (Appendix 2) - group registration forms for prenatally diagnosed anomalies and chromosomal abnormalities (Appendix 3) - group registration forms for postnatally diagnosed anomalies and chromosomal abnormalities (Appendix 4) (3) data analysis from the medical records/pregnancy reports - congenital anomalies diagnosed prenatally in state primary health care (health centre) during the period of examination, - congenital anomalies diagnosed prenatally in private health institutions at the primary level (private gynaecological surgeries and clinics) during the period of examination - congenital anomalies diagnosed prenatally in public health care facilities at the secondary level (General Hospital Vršac and General Hospital Pančevo) during the period of examination - congenital anomalies diagnosed postnatally in state health care institutions at the secondary level (General Hospitals Vršac and Pančevo) during the period of examination - prenatally and postnatally diagnosed chromosomal defects in state institutions (genetic services of the Institute for Health Protection of Children and Youth in Novi Sad, Institute for Mother and Child in Belgrade, Gynaecology and Obstetrics Clinic “Narodni Front”, in Belgrade, Clinic of Gynaecology and Obstetrics, Clinical Centre of Serbia, Belgrade) - prenatally and postnatally diagnosed chromosomal defects diagnosed in private centres for genetic testing - congenital anomalies and chromosomal defects diagnosed postnatally in state health care institutions at the secondary level (General Hospitals Vršac and Pančevo) 87 - prenatally diagnosed congenital anomalies and chromosomal defects that are addressed at the tertiary level of health care in Belgrade and Novi Sad (Department of Gynaecology and Obstetrics, Clinical Centre, Institute for Mother and Child Health, Department of Obstetrics - and Gynaecology “Narodni Front”, Department of Gynaecology and Obstetrics Serbia) - course of pregnancy, delivery, neonatal confirmation of diagnosis. - Prenatal malformations and chromosomal defects diagnosed in the region of South Banat and referred to a tertiary centre for termination of pregnancy in Belgrade and Novi Sad (4) histopathological analysis of data from the centres and forensic medicine after the termination of pregnancies with prenatally diagnosed anomalies and chromosomal abnormalities in health centres at secondary and tertiary levels (General Hospital Vršac and Pančevo, Department of Gynaecology and Obstetrics, Clinical Centre, Institute for Mother and Child Health, Department of Obstetrics and “Narodni Front”, Department of Gynaecology and Obstetrics, Clinical Centre of Serbia) (5) Having been given insight into the current practice of diagnosis and recording of data on the detection of congenital anomalies, based on contemporary practice and literature, an action plan was made to reduce the risk of congenital malformations and chromosomal abnormalities, and consequently their frequency, as well as to improve the detection rate, whose objectives included the medical workers and the general population 88 RESULTS Activity plan was filled according to the proposal outlined in the project, with the aim of publishing the bilingual report on the study of foetal anomalies in the region of South Banat - incidence, causes and risk factors for the development of congenital anomalies in the South Banat region during the period of three years - 2010, 2011 and 2012. Forming the Database Researchers from the General Hospital Vršac were given instructions for the occasion by the consultants and individual and group registration forms of congenital anomalies and chromosomal abnormalities were made. Data collection began in the first month of implementing the contract, when the first set of data was received and it was continued until they had received all the required information. In the second month of the implementation of the agreement consultations were organized between experts and researchers in order to achieve consensus on the action plan, methodological actions and collection of data. All of the registered healthcare facilities in the region of South Banat, as well as in Novi Sad and Belgrade, which are the reference institutions for this region, had been informed of the need to provide data on prenatal and postnatal registered anomalies and included both private and public institutions of primary, secondary and tertiary levels, with a request that researchers selected for the project were to be provided access to records in order to collect data in the reporting period (years 2010-2012) . Written requests were sent to allow access to data and the majority of approvals were obtained, except from the Clinic of Gynaecology and Obstetrics, Clinical Centre of Serbia, whose administration responded that he could not give approval for obtaining the data. A team of researchers appointed by the General Hospital after obtaining the approval investigated the available medical records in institutions that had approved it, and institutions that could do so, sent their information directly to the team. Medical documentation was analysed in the General Hospital in Vršac, the General Hospital in Pančevo, Gynaecology and Obstetrics Clinic “Narodni Front”, in Belgrade and the Department of Gynaecology and Obstetrics, Clinical Centre of Vojvodina in Novi Sad. Data collection was completed in the fourth month of implementing the contract. Tertiary centres - Gynaecology and Obstetrics Clinic “Narodni Front”, and the Department of Gynaecology and Obstetrics, Clinical Centre in Novi Sad were included because they were tertiary, reference institutions for the diagnosis of anomalies and termination of pregnancies after twenty weeks of gestation, because, according to the organization of the health system of the Republic of Serbia , secondary healthcare facilities patients were referred to the competent institutions of the tertiary level. Termination of pregnancies after twenty weeks of gestation can only be done in 89 tertiary institutions, with the Ethics Committee, which is appointed by the Ministry of Health of the Republic of Serbia, and so anomalies diagnosed in the region of South Banat were further referred to tertiary institutions in Belgrade and Novi Sad to confirm the diagnosis and treatment of pregnancy. In the, for this opportunity developed, individual registration form for prenatally diagnosed anomalies and chromosomal abnormalities (Appendix 1) general data were filled in (centre/clinic, ID number (MB/outpatient), the patient’s name, date of birth, number of pregnancies, number of deliveries, personal history (diseases, therapy, surgery), family history, address, personal identification number, telephone number). In the prenatal detection the following data were filled in- ultrasound findings, Gestation where the abnormality was diagnosed, Gestation when previous ultrasound examinations were done, type of anomaly (description), additional anomalies And findings, karyotype (insert karyotype regardless of whether the karyotyping was done prenatally or postnatally), additional time (consultative ultrasound examinations, echocardiography, MRI, relevant laboratory tests (TORCH, Parvo B19, biochemical screening in the I/II trimester) and the pregnancy outcome. If there was a termination of pregnancy, Gestation, the method of termination was filled in. If there was delivery, data were filled in on whether the child was live born or still born, also gestation at delivery and the mode of delivery. Anomalies were described that were seen after the abortion/delivery, and during the autopsy. The requested data were not received from private offices and clinics, government centres of Genetics, Genetics private centres, centres for histopathology and forensic medicine. Data were obtained on prenatally suspected and diagnosed anomalies, as well as postnatally diagnosed anomalies from the General Hospital Vršac, Pančevo General Hospital, Department of Obstetrics and Gynaecology Clinical Centre of Vojvodina in Novi Sad and Gynaecology and Obstetrics Clinic “Narodni Front”. Statistical analysis was done by inserting data into a software package Excel and by processing the data using statistical program SPSSv.20. Results The research results will be presented in the following sections: 1. Basic sociodemographic and health indicators of the analyzed deliveries 2. Analysis of anomalies a. Analysis of anomalies detected prenatally b. Analysis of anomalies detected postnatally 3. Analysis of anomalies in the GH Vršac 4. Analysis of anomalies in the GH Pančevo 5. Analysis of anomalies in Gynaecology - Obstetrics Clinic “Narodni Front”, Belgrade 90 6. Presenting the anomalies according to years: 2010, 2011, 2012. A total of 145 registered cases of anomalies were processed as follows: − 31 anomalies detected prenatally (21.4%) − 114 anomalies detected postnatally (78.6%). The data analyzed were obtained from three hospitals: − General Hospital Vršac, − General Hospital in Pančevo, − Gynaecology and Obstetrics Clinic “Narodni Front”, Belgrade. The were analysed of prenatally and postnatally diagnosed anomalies for the threeyear period 2010-2012, which were obtained by being recorded for the purposes of the project formed forms filled in having had access to the available medical records of the mentioned health care institutions. 1. Basic sociodemographic data a) The age of mothers The average age of the delivering women was 30.36 years (± 5.41). The youngest mother was 17 years old and the oldest was 44. Most mothers, 50 of them, belong to the 30-34 age group, followed by the age group of 25-29 (46), 23 of them are 35-39 years of age, and there were least adolescent girls (4). Graph 1. Age of the delivered women (years) Table 1. Age of the delivered women (years) b) Parity For more than half of the patients (51.7%) this was the first delivery. It was the second delivery for more than a third of patients (32.4%); 11% of women had their third delivery, for four of them (2.8%), this was the fourth delivery and it was the fifth and sixth time for one woman respectively. Table 2. Deliveries Of the total of 145 births 74% were vaginal deliveries and 26% of pregnancies were completed surgically. Graph 3. Mode of delivery 107 patients (74%) delivered vaginally, and for most of them this was their first birth (52.33%). It was the second child for 33 (30.84%) and third for 13 (12.15%). Caesarean section was performed on 38 patients and to 20 of them (52.63%) this was the first childbirth, it was the second child to 47 (32.41%) and third to 16 (11.03%) patients. One patient who had her fourth child delivered the baby using the Caesarean section and three women delivered vaginally, both the woman who had its fifth and the one who had its sixth delivery gave birth vaginally. 91 Table 3. Mode of delivery and number of deliveries The total number of diagnosed anomalies (145) in relation to the analyzed years is proportionally distributed and recorded no significant variations. In 2010, 43 anomalies were diagnosed, which represents 30% of the total sample. The year 2011 saw an increase in detected anomalies of 7% and a total of 54 anomalies and in 2012 doctors diagnosed 48 anomalies which amount to 33% of the total number of the cases analyzed. Graph 4. Number of deliveries in examined years Of the total of 145 analyzed anomalies, the highest percentage was reported in GH Pančevo, 58.6%; then in the General Hospital Vršac, 38.6% and the lowest percentage of patients from the South Banat District were referred to further treatment in Belgrade, GOC “Narodni Front”, 2.8%. Graph 5. Number of diagnosed anomalies in relation to health institution The largest number of diagnosed anomalies (32) was in GH Pančevo in 2010, and then in 2012 (27). During 2011, 26 anomalies were detected in GH Pančevo and in GH Vršac. Graph 6. Number of anomalies in relation to examined years 2010-2012. A total of 63.4% of detected anomalies in newborns were male and 36.6% female. Graph 7 . Gender structure of fetuses and newborns with anomalies Table 4. - sex of the newborn by health institution The average birth weight in newborns with anomalies was 3334 g and the average body length of 51.32 cm. The lowest body length had a newborn baby born in the 30th (1120 gr) week of gestation, diagnosed with gastroschisis, and the maximum body weight (4700 g) had a newborn baby girl with a heart defect. The highest percentage (39.31%) of newborns belongs to the group weighing 3000-3500 grams. Table 5. Weight and length of the newborns Table 6. Distribution of birth weight Patients on average gave birth in 39th gestation week (± 1.42) g. The highest percentage of patients (41.4%) gave birth in the 40th week of pregnancy. 14.5% of patients gave birth before the 38th week of gestation. After the 40th week, 5 patients gave birth. Graph 8. Gestation at delivery 2. Analysis of anomalies After examining the available medical records of medical centres in the area of South Banat, a total of 145 cases of anomalies were found. Of these, 114 anomalies (78.6%) were discovered at birth and 31 (24.4%) during pregnancy. 92 Table 7. Total number of anomalies Graph 9. Total number of anomalies A total of 56 anomalies were registered in GH Vršac (38.62%); 85 anomalies in GH Pančevo (58.62%) 4 cases (2.8%) were sent to an institution of higher rank (GOC “Narodni Front”). Table 8. Anomalies in relation to years and health institutions Table 9. Anomalies in relation to health institutions and time of diagnosis Table 10 shows the cases of detected anomalies in the observed year, health institution and year. During 2011, most anomalies were detected and individually most anomalies were discovered in 2010 in GH Pančevo, which comprised 22.07% of the total number of anomalies. Table 10. Anomalies in relation to health institutions and time of diagnosis Most frequent detected anomalies were heart defects, 49 (34%). Abnormalities of limbs were the second largest group (n -30) and their share was 21%. Third were anomalies of the genital and urinary tract (36) or 25%. These were followed by anomalies of face (9) or 6%; CNS anomalies (5), 3%; and anomalies of the head (3) at 2%. Two chromosomal defects were detected as were multiple anomalies and anomalies of the gastrointestinal tract. A single anomaly in the lungs, brain and chest pain (0.7%) were found. Graph 10. Diagnosed anomalies by systems Table 11. Diagnosed anomalies by systems Table 12. Anomalies by systems and years Graph 11. shows the distribution of anomalies by gender and health institutions. Proportional to the total number of anomalies, GH Pančevo recorded their highest number in both males and females. Graph 11. Anomalies by gender and health institutions Tables 13. and 14. show anomalies by the gestation of diagnosis and systems. The largest number of anomalies was detected postnatally. Table 13. Anomalies – gestation of diagnosis Table 14. Anomalies by systems, health institutions and time of diagnosis In cases of detected anomalies, the largest number of newborns was referred for further examination with expert medical specialists; three died; seven were sent to the Institute of Mother and Child and seven to University Children’s Hospital and two to the Institute for Neonatology. Table 15. Anomalies - outcomes 93 Deceased: − 2010, male infant, from the second pregnancy, born by vaginal delivery, AS 8/9, TM 3450/53 cm. Dg: vitium cordis cong. The anomaly was seen postnatally. The newborn was transported to the Institute for Mother and Child in Belgrade, where he died − In 2011, a female infant born in the 35 th week of gestation by caesarean section, AS 3/5, TM 1350/40 cm. Dg: anencephaly. The anomaly was seen postnatally. Died in a hospital in Vršac − In 2011, a female infant born in the 30th week of gestation by caesarean section, AS 3/5, TM 1350/40 cm. The anomaly was seen prenatally, sent to GOC “Narodni Front”. DG: Gastroshisis. Died in GOC “Narodni Front”. The analysis of anomalies detected postnatally There were 114 (78.6%) postnatally detected anomalies. In GH Pančevo 61 cases of anomalies (53.5%) were diagnosed and in GH Vršac 53 (46.5%). The average age of mothers was 33.37 years. Most anomalies were detected in 2012 - 37.7%. Gestation average was 38.96 weeks (± 1.24). The average body weight of newborns was 3335 grams (± 520) and body length was 21.24 (± 3.01). The average number of births compared to patients was 1.79 (± 0.79). Most postnatal anomalies were detected in GH Pančevo 53.5% and 46.5% were diagnosed in GH Vršac. A total of 37.7% postnatal anomalies were discovered in 2012, 36% in 2011, and 26.3% in 2010. Table 16. Diagnosed anomalies by health institutions Table 17. Postnatally diagnosed anomalies by years Distribution of anomalies detected postnatally by gender is - 76.7% were males and 33% were females. Graph 12. Postnatal anomalies and gender (M-male, Ž- female) In 71% of cases infants with anomalies were born vaginally and 29% by caesarean section. Graph 13. Mode of delivery in postnatally diagnosed anomalies In 50% of women this was their first delivery. It was the second delivery to 33.3%, the third to 10.5%, and fourth to 3.5% patients. One patient had her fifth and one had her sixth delivery. Table 19. Parity of mothers, postnatally diagnosed anomalies Apgar score at 5 minutes in 50% of infants was 10. Table 18. Apgar score at birth, postnatally diagnosed anomalies Body weight of newborns is shown in Table 20. 94 Table 20. Birth weight and length, postnatally diagnosed anomalies In cases where the anomalies were detected postnatally most of them (33) were genitourinary tract anomalies, 29%. The second in number were the anomalies of limbs (29), 25%, and the third were heart defects (28), 25%. These are followed by anomalies of face (9) with 8%, anomalies of the CNS and of the abdomen (4) with a 3%. One anomaly each was detected of: head, GIT, chest, brain, lungs and one multiple anomaly and chromosomal abnormality. Graph 14. Postnatally diagnosed anomalies by systems Of 114 infants with postnatally discovered anomalies in infants, 8 of them have been referred to an institution of higher rank (4 to the Neonatology Institute, 4 to the University Children’s Hospital in Belgrade). Two infants died. The analysis of anomalies detected postnatally Prenatally detected anomalies were 31 (21.4%). In GH Pančevo 24 cases of anomalies (77.4%) were diagnosed and 3 in GH Vršac (9.7%); while the GOC “Narodni Front”, discovered four anomalies (12.9%). The average age of mothers in this group was 31.86 years. The average Gestation in detecting anomalies was 38.87 weeks (± 1.97). The average body weight of newborns was 3327 grams (± 587) and body length was 51.24 (± 3.01). The average number of births compared to patients was 1.54 (± 0.72). Most prenatally detected anomalies were in GH Pančevo 24 (77.4%), followed by GAK “Narodni Front”, 4 (12.9%), and in GH Vršac 3 (9.7%). Table 21. Diagnosed anomalies by health institutions An identical number of prenatally diagnosed anomalies occurred in 2010 and 2011, (41.9%), while in 2012 it was reduced to 16.1%. Table 22. Prenatally diagnosed anomalies by years The distribution by gender in the prenatal anomalies is equally distributed: 16 in males and 15 in females. Graph 15. Prenatally diagnosed anomalies by gender In cases of prenatally detected anomalies pregnancy were delivered vaginally in 84% of cases, 16% of cases were delivered by Caesarean section. Graph 16. Mode of delivery in prenatal anomalies Apgar score in the fifth minute upon birth in prenatally detected anomalies in 51.6% of cases was 9. 32.3% percent of infants were given a ten, eight was given to 9.7% and a six and a seven were given to one infant each. Table 23. Apgar score at birth, prenatally diagnosed anomalies In 58.1% of women this was the first delivery. It was the second child to 29% and the third to 12.9% patients. 95 Table 24. Parity, prenatally diagnosed anomalies The average birth weight was 3327 grams (± 587.6). The minimum body weight was 1250 grams, and maximum was 4500 grams. The average body length was 51.48 cm (÷ 3.55). The minimum length was 37 cm and 55 cm was the maximum. Table 25. Birth weight and length, prenatally diagnosed anomalies Overall, 68% of prenatally detected anomalies were anomalies of the heart. A total of 10% were anomalies of the genitourinary tract and 7% were anomalies of the abdomen. One anomaly of each was detected: CNS, extremities, face, multiple and chromosomal abnormalities. Graph 17. Prenatal anomalies by systems A total of seven infants with a detected anomaly were sent to an institution of higher rank for further treatment. Three infants were transported to the Institute for Mother and Child, two to the Institute for Neonatology and two to the University Children’s Hospital in Belgrade. One infant died. 1. Analysis of anomalies in the GH Vršac In the General Hospital Vršac, overall 56 anomalies were diagnosed, which comprises 38.62% of the total. Broken down by age: most occurred in 2011 (46.42%) and in 2012 (35.71%). and least in 2010 (5.6%). Graph 18. Anomalies in General Hospital Vršac by years The gender structure of anomalies detected in the GH Vršac is as follows: 75% in males and 25% females. Graph 19. Anomalies in General hospital Vršac, gender Prenatally 3.5% anomalies were seen and 95% were detected postnatally. Graph 20. Prenatal and postnatal anomalies, General Hospital Vršac Deliveries were in most cases vaginal, 73% and 27% of women gave birth by Caesarean section. Graph 21. Mode of delivery General Hospital Vršac For the most part they were the anomalies of the genitourinary tract 26 (46%), then of extremities 15 (27%). There were 6 heart anomalies (10%) and 4 of the abdomen (7%). One anomaly of each was found: the head, chest, brain, chromosomal abnormalities, and a multiple anomaly. Graph 22. Anomalies by systems, General Hospital Vršac 2. Analysis of anomalies in the GH Pančevo 96 In GH Pančevo, a total of 85 cases of anomalies were diagnosed making up a total of 58.6% of the overall number of analyzed anomalies. Most anomalies were detected in 2010 there were 37.64%, followed by 2012. with 31.74% and least were detected in 2011 - 30.58%. Graph 23. Anomalies in General Hospital Pančevo by years A higher percentage of anomalies was detected postnatally 72%, and prenatally they were seen in 24 pregnancies (28%). Graph 24 . Prenatal/postnatal anomalies, General hospital Pančevo As for the gender structure, a greater incidence was in males (56%) and in females it was in 44% of cases. Graph 25. Anomalies in General hospital Pančevo, gender structure In GH Pančevo, Deliveries were in most cases vaginal, 75% and 25% of women gave birth by Caesarean section. Graph 26. Mode of delivery General Hospital Pančevo Most heart defects (43) 50% were detected in GH Pančevo. In the second place were the anomalies of extremities (15) with 18%. Ten cases of urinary tract and the same number of facial anomalies were detected (12%). There were (5) 6% CNS anomalies. An anomaly of the gastrointestinal tract and one lungs anomaly were detected. Graph 27. Anomalies by systems, General Hospital Pančevo Most heart defects were detected in GH Pančevo (43) 50%. Second in place were the anomalies of limbs (15) with 18%. 10 cases of anomalies of the urinary tract and face were detected (12%). There were (5) 6% CNS anomalies. Anomalies by system GH Pančevo Of the 85 cases of anomalies 12 (14.11%) were transported to a higher rank institution. Ten (10) infants were transported to the Institute for Mother and Child and to the university Children’s Hospital and two infants were referred to the Institute for Neonatology. Other infants were referred for check-ups with competent specialists, surgeons for the most part. 3. Analysis of anomalies Gynecology Obstetrics Clinic “Narodni Front” Having reviewed the medical records protocols and delivery history of Gynaecology and Obstetrics Clinic 4 cases of anomalies were found in patients from the territory of South Banat, where the anomalies were seen prenatally and were sent for further treatment in an institution of higher rank. 1. In 2010, an anomaly of the abdomen was detected (gastroschisis) in a female fetes. This was the patient’s (born in 1991) first pregnancy, the baby was delivered in 37th week of gestation (AS 4/6, TM 2780/47 cm). 97 2. In 2011 in a patient (born in 1983) an anomaly abdomen was detected in the female fetes in the 29th week of gestation. The patient was delivered at 30 weeks of gestation (AS 5/7, TM 1120/37 cm). The infant died upon birth. 3. In a patient (born in 1982) multiple anomalies were detected in a female fetes during pregnancy. (Dg: Atresio esophagi. Fistula trachoesophagealus susp. Sy L. Down). The patient gave birth vaginally at 36 weeks of gestation TM 2300/45 cm, AS 7/9). 4. In 2012, chromosomal defect was detected in a male fetes during pregnancy at 36 weeks of gestation (AS9 / 10, TM 2900/50 cm). The patient gave birth in 39 GW. The child was transferred to the Department of genetics because of suspected L. Sy Down. Table 26. Anomalies in GAC “Narodni front” The realisation of the objectives of the project Establishing the incidence of anomalies and chromosomal abnormalities and prenatal detection rate was not possible on the basis of the collected data available, because the data were incomplete and, as such, insufficient to reliably calculate the statistical data. Having reviewed the available data, however, we see that there is space for defining directions to reduce the risk of congenital anomalies, particularly in the context of raising awareness about pre-conceptive supplementation with folic acid, in order to reduce the risk of defects neural tubes. As far as the specific objective of obtaining insight into the monitoring of pregnancy and postnatal outcomes of pregnancies with prenatally diagnosed anomalies and chromosomal abnormalities is concerned, it is clear that there is no adequate system of both the registration and monitoring of congenital anomalies, and the situation is further complicated by a chance that institutions participating in prenatal and postnatal detection, can refuse to provide information about anomalies, thus hindering a very important part of monitoring the state of health care. The specific objective of raising awareness on the necessary actions aimed at reducing the risk of developing congenital anomalies and chromosomal abnormalities is met completely, because the education of physicians and of pregnant women, as well as and media promotion of the project itself have pointed out how inadequate the existing system is and raised awareness of the needed amendments to the diagnosis, monitoring and registration of congenital anomalies. 98 DISCUSSION Prenatal diagnosis is the norm in the proper management of pregnancy and its application is very wide, but for a successful application of screening abnormalities and pathological conditions of the foetus during pregnancy appropriate ultrasound equipment is required, and it is necessary to adequately and continuously educate doctors involved in this segment of the diagnosis and multidisciplinary approach. Congenital anomalies, among which the most common are malformations of the heart, have equalled the prematurity as the leading cause of perinatal morbidity and mortality. In order to improve the detection rates of these disorders one needs to work on raising the level of primary health care - screening of all pregnant women using ultrasound examination in the corresponding periods of pregnancy, as well as the training centres at tertiary level where a multidisciplinary approach to anomalies is applied, along with the expertize of the problem and the implementation of all available diagnostic and therapeutic options, and adequate planning of the postnatal flow. The problem of modern health care fragmentation of services and coordination of care, especially when need arises for interdisciplinary approach to the problem, as is the case with prenatally diagnosed anomalies. The work of the regional center for monitoring, diagnosing and organization of further pregnancies with prenatally diagnosed anomalies can significantly improve the coordination of services and accelerate obtaining adequate and timely information on the possibilities for the further course of pregnancy. Due to the constant decline in the birth rate in Vojvodina, it is of great importance that every pregnancy should result in a healthy newborn. Proper control of pregnancy aims to timely disclose: anomalies incompatible with life, anomalies with poor prognosis and severe disability, anomalies which, if detected in time, have a better postnatal prognosis. Registered anomalies in the South Banat region in the period of 2010. - 2012 The incidence and detection rate in the studied material Examination of the data by a team of researchers General Hospital Vršac collected for the test period, has confirmed that 145 anomalies had been registered. In South Banat region there are three hospitals - in Vršac General Hospital, with 600 deliveries annually, in General Hospital Pančevo, with 1,700 deliveries annually. It is not possible to calculate the incidence based on this number of anomalies in the region during the reporting period, because of the low number of registered anomalies, as well as the number of anomalies by systems. It is necessary to successively and 99 accurately track the movement of anomalies that have been diagnosed both prenatally and postnatally, which is currently not possible because there are no adequate legal systems of hierarchy, diagnosis and registration, compulsory notification of anomalies and collecting, monitoring, and analysis of epidemiological data, as well as scattering of patients who, due to the lack of a solid referral system go to other centres where their geographical origin is not registered and so, consequentially the anomaly is not associated with it. Risk factors for the development of anomalies Inability to connect anomalies to a specific region, inadequate registration, the lack of capacity to monitor the pregnancy course, possible terminations or deliveries, karyotype, associated anomalies; and confirmation of a presence or absence of an anomaly after the termination or delivery has impossibility to establish accurate epidemiological characteristics and risk factors for development of anomalies as a consequence. The commonest severe congenital anomalies are the heart anomalies, neural tube defects and Down’s syndrome. Generally speaking, there are several groups of risk factors for the development of anomalies - genetic factors, impact of infections and environment, but most often it is not easy to define the exact cause. The risk of many anomalies can be reduced - by vaccinations, adequate nutrition, vitamin supplementation - taking folic acid and iodine and good antenatal care. In about 50% of cases a development of congenital anomalies cannot be associated with a specific cause, but several large groups can be defined which can lead to their formation. The most frequent causes and risk factors for the development of congenital anomalies are: - socio-economic factors - although it may be possible that the cause is indirect -congenital anomalies are more common in poor countries and among poor populations, where the diet is bad, where there is no access to good antenatal protection, and exposure to harmful agents may be less controlled. The exception is Down syndrome, which is directly linked with maternal age and is more common in areas where the average age of mothers is increased or in developed environment where motherhood is postponed - genetic factors - consanguinity increases the prevalence of rare genetic anomalies. In some ethnic communities one can find a greater number of rare genetic mutations - infection - maternal infections such as syphilis and rubella increase the risk of congenital malformations in the general population - rubella, toxoplasmosis, cytomegalovirus, syphilis, HIV/AIDS. Rubella infection can be avoided by vaccination, syphilis and HIV with adequate protection, treatment and 100 screening. There is no protection against cytomegalovirus but screening can be implemented. - mothers’ diet - inadequate intake of iodine and folic acid and diabetes increase the risk of congenital anomalies. Iodine deficiency can lead to miscarriage and neonatal death, and to a decrease in intellectual abilities of the child. Reduction of insufficient intake can be eliminated by iodinating table salt. - Impact factors of the environment - mother’s exposure to pesticides, certain drugs, alcohol, tobacco, psychoactive substances, certain chemicals, high doses of vitamin A and high doses of radiation all increase the risk of congenital anomalies. Teratogens are physical or chemical substances which may affect the fetes and can be avoided by planning. Alcohol is a teratogen and regular exposure to large amounts of alcohol can lead to the development of foetal alcohol syndrome, which is characterized by a specific child’s appearance and reduced intellectual ability. Smoking increases the risk of premature delivery, miscarriage, sudden neonatal death syndrome, and the development of cleft palate and lip. Exposure to drugs that may be teratogenic is rare in developed countries, but is often in areas with poor population. Teratogenic drugs phenytoin, thalidomide, misoprostol, vitamin A, statins ... - Mother’s chronic diseases - insulin dependent diabetes in the mother, which occurs in about 0.5% of pregnancies in highly developed countries, significantly increases the risk of congenital anomalies. In underdeveloped countries anomalies occur more often due to poor regulation and inadequate screening. Drugs used in the treatment of epilepsy raise the risk of congenital anomalies - neural tube defects and cardiac anomalies. Proposed measures to raise the level of antenatal care reducing the risk of developing congenital anomalies In 2010, the World Health Organization adopted a resolution calling on all its members to promote primary prevention of congenital anomalies through - development and strengthening registration and surveillance system - development of expertise and health care organizations - development of research and testing in the field of etiology, diagnosis and prevention - promoting international cooperation The proposed preventive measures in the field of public health on the primary level, in order to reduce the risk of congenital anomalies are: - improving nutrition of women during their reproductive years, with appropriate vitamin supplementation with vitamins and minerals, especially folic acid and iodine, avoiding the use of harmful substances - alcohol, tobacco and psychoactive substances 101 - adequate control of pre-existing chronic diseases in mothers - Diabetes, obesity, phenylketonuria, sexually transmitted diseases, hypothyroidism, epilepsy, HIV) - avoiding exposure to harmful substances from the environment metals, pesticides, certain drugs) during pregnancy (heavy - the improvement involves vaccinations (Rubella, chickenpox, hepatitis B) - strengthening of health care systems through training of health professionals involved in the promotion of health prevention of congenital anomalies The proposal of an action plan for the prevention of congenital anomalies, reducing the risk of congenital anomalies and adequate screening and treatment of pregnancy with congenital anomalies in the entire region of South Banat - organizing educational campaigns for the general population on the need of o planning pregnancy, o the use of vitamin supplements to reduce the risk of congenital anomalies - neural tube defects, o regular examinations during pregnancy, o screening for chromosomal defects, o reduction of risk factors for the development of congenital anomalies giving up smoking, reducing the intake of large quantities carbohydrates, avoiding exposure to X-rays, avoiding taking medications without consulting a physician, cessation of work in workplaces that carry a risk of impact on the development of congenital anomalies, avoiding exposure to the risk of infection o better understanding of the nature of congenital anomalies and chromosomal abnormalities - organization of continuing education of medical professionals o organization of training courses and seminars on different levels for educational needs of doctors who deal with the health care of women in order to better detect congenital anomalies and chromosomal abnormalities such as attending an educational seminar on modern screening for chromosomal defects (ultrasound, biochemical screening, noninvasive prenatal testing, karyotyping) attending an educational seminar on ultrasound examination in I, II and III trimester of pregnancy - basic level - basic ultrasound examination attending an educational seminar on ultrasound examination in I, II, III trimester of pregnancy - advanced level - detection of anomalies ultrasound population screening 102 attending an educational seminar - fetal neurosonography attending an educational seminar - fetal echocardiography attending an educational seminar for neonatologists on the treatment of new-borns with congenital anomalies o development of educational materials for medical staff working in the field of women’s health care; in the field of counselling women in fertile delivery period for pregnancy planning and reducing risky behaviour during pregnancy; pregnancy monitoring; ultrasound examinations during pregnancy; screening for chromosomal defects; invasive interventions for karyotyping, consulting examinations upon detection anomaly - counselling, pregnancy monitoring, decisions about terminating the pregnancy, care of the newborn after delivery including atlas of normal morphology and the most common anomalies, intended for physicians gynaecologists - obstetricians interactive educational CDs on ultrasound examination of the fetes and ultrasound presentation of the most common fatal anomalies a poster with the above checklist for an adequate, standardized ultrasound examination during pregnancy monograph on the treatment of an infant with congenital anomalies intended for doctors paediatricians - neonatologists o organization of multidisciplinary consultative medical teams that participated in the detection and monitoring of pregnancy with congenital anomalies, adequate counselling of parents and planning the future course of pregnancy and delivery team organization - in the team that deals with prenatally diagnosed anomalies registry there have to be doctors from departments for ultrasound diagnostics, high-risk pregnancies department, and the department of pathology of pregnancy, as well as family planning departments, and for the registration and tracking of anomalies detected postnatally a department of neonatology should be in charge organization of referral scheme - when the diagnosis of an anomaly is made in the General Hospital in Vršac, or upon the arrival of anomalies diagnosed in another centre, it is confirmed consultatively - a consulting team consisting of at least two doctors involved in the targeted prenatal ultrasound, and seeking further necessary testing in terms of karyotyping or organization of consultation in other fields of expertise pediatricians and children’s surgeons, or should an anomaly require so services of other specialists may be required - a radiologist, an ophthalmologist Etc. 103 The organization of structured counselling of parents - After consultation, the situation and the prognosis are presented to parents who then make a decision on how they want to deal with the pregnancy. If they decide to terminate the pregnancy, before the twentieth week, a decision by the First-degree Trial Commission is required, and after 20 weeks of gestation, the Ethics Committee should give their opinion, and pregnant women is therefore referred to a tertiary institution. Arrangements for monitoring pregnancies - in the case of a continuation of pregnancy, regular check ups of the fetes are organized, with delivery planning and the presence of particular medical specialists at the delivery is planned, who, together with neonatologists, are further responsible for it Arrangements for the termination of pregnancy in the event of termination of pregnancy the autopsy of the fetes is mandatory, and information about its outcome shall be attached to the case history of the hospitalized patient o Using the uniform registration reports in order to be able establish a registry of congenital anomalies and chromosomal defects in the region of South Banat, and possibly expanding the registry to the whole region of Vojvodina (Appendices 1, 2, 3, 4) o use of standardized reports on ultrasound examination I trimester (Appendix 5) II/III trimester (Appendix 6) o a registry of congenital anomalies and chromosomal region of South Banat, and possibly expanding the register to the whole region of Vojvodina. The objectives of the formation of such a registry are: improvement of prenatal detection adequate documentation and registration of anomalies with additional testing organization of further treatment pregnancy with anomalies planning of the mode, time and place of ending of pregnancy monitoring and recording outcomes - short and long term planning next pregnancies o developing guidelines for prenatal ultrasound examinations in order to have uniform examinations on all levels of prenatal care o organizing workshops for training registry coordinators for congenital anomalies and chromosomal abnormalities - gynaecologist and neonatologists on overcoming the problems of registration o organizing the promotion of establishing and operation of the Register of anomalies and chromosomal abnormalities with the presence of the 104 medical specialists in gynaecology and obstetrics, and paediatrics and neonatology along with other medical staff who work with pregnant women and new-borns o acquisition of modern ultrasound devices for improved diagnosis of anomalies o centralization of data by setting up an interactive website for online registration of anomalies. Access to the site would be stratified, so that at the highest levels feeding all the data would be followed, just as would all of the data and its processing; and everybody involved would be able to have an insight into the outcomes of cases, as well as tracking the information and outcomes of their searches. In this way one would overcome duplication of data, and provide a rapid, on-line consultation of the team o forming software for data processing, which would lead to adequate processing and presentation of data, without dissipation and duplication of data o informing the general population - making the promotional material for the general population, in order to distribute information and informing the general population, especially pregnant women on the importance of the project goal: special educational publications for pregnant women information leaflets for pregnant women on the application of ultrasound in obstetrics promotional T-shirts for pregnant women and health care professionals with the logo of the project posters for pregnant women promotional labels for healthcare facilities organization of training workshops for women in generative period and pregnant women, which would promote a healthy lifestyle, preparing for pregnancy and adequate prenatal care with messages and slogans: • Plan your pregnancy - Enter pregnancy healthy, drink 400 mcg of folic acid daily for at least three months before becoming pregnant • Avoid harmful substances - do not drink alcohol and smoke, avoid exposure to harmful substances at work, and at home • Choose a healthy lifestyle - eat a healthy and varied diet, be physically active, if you have a chronic disease go for regular check-ups • Talk to your doctor - go regularly for check-ups, before taking any drug discuss its impact on pregnancy, tell your doctor your personal and family medical history 105 Establishing a registry of congenital anomalies in the South Banat and Vojvodina Adequate documentation and registration of congenital anomalies has forensic importance, in terms of protecting both the patient and the doctors who deal with this problem and it also prevents abortions without proper authorization and relevant medical records. Based on relevant data it also provides unique scientific data on the types of congenital anomalies and chromosomal abnormalities in this region and provides parents with an insight into the foetal prognosis in our conditions and allows for a maximum care of the newborn. The register provides specific information about the incidence, rates of detection and anomaly prognoses specific to our area. The objectives of the program registration and surveillance of congenital anomalies are to: - follow the trend of prevalence of different types of congenital anomalies in a particular population - detect clusters of congenital anomalies - timely refer affected pregnancies to adequate centres - disseminate of findings and their interpretation to the appropriate partner organizations and government institutions - create a database for epidemiological studies, including the definition of risk factors and opportunities for the organization of prevention programs - evaluate of the success of the program evaluation The initial level of organization of registration of congenital abnormalities may include only structural anomalies that can be relatively easily diagnosed prenatally or shortly after birth. Usually there are major structural anomalies of the type of cleft face, neural tube defects and limb abnormalities. Detection of internal structural anomalies (congenital heart defects, intestinal abnormalities, urogenital system...) requires the use of imaging techniques or other specialized methods and interventions that may not be always available. Classification of the mechanisms of development or clinical presentation can play an important part in the diagnosis and monitoring of anomalies, because sometimes the same congenital anomalies may have a different etiology. 106 Arranging the collection, analysis and recording of data - Finding partners for the development and financing of the register for anomalies - Potential partners include Ministry of Health of the Republic of Serbia; Ministry of Ecology; various government agencies; professional associations of doctors and nurses; private healthcare organizations; insurance companies; educational institutions; non-governmental organizations working on health and social issues; the association of parents of children with health problems; researchers, the media, the church. - The introduction of mandatory reporting and monitoring prenatally and postnatally diagnosed anomalies - mandatory and voluntary. Mandatory reporting is introduced with statutory legislation and the voluntary one is based on voluntary participation in the program, which is less efficient. Ensuring the confidentiality of data - Data Collection - Sources should be multifaceted and include o Departments of Pathology of pregnancy and high-risk pregnancies o Departments of ultrasound prenatal diagnosis o Gynaecological-obstetrics surgeries o protocols of delivery rooms o neonatal departments related to delivery rooms o Departments of paediatrics o departments of paediatric surgery o cardiology dispensaries o histopathological laboratories and institutes o institutes of forensic medicine o laboratories for genetic diagnosis - Control of the collected data o comparing of trends in the incidence, rates of prenatal detection rate of false positive and false negative results within individual institutions, comparing the results of institutions in the selected region o comparing the statistical performance diagnostics with established trends in the general population in other regions o checking entries - providing individual entries, without repeating the results 107 CONCLUSIONS I. General Information 1. The average age of delivered women in the material analysed was 30.36 years of age (± 5, 41. min 17, max 44). Most mothers, 50 of them belong to the age group 30-34 years of age, followed by the age group of 25-29 (46), 23 of them in the group 35-39 and adolescents comprised the smallest group (4). 2. For more than half of the patients (51.7%) this was the first delivery. It was the second delivery for more than a third of patients (32.4%); the third one for 11% of women, the fourth four of them (2.8%), and it was the fifth and sixth time for one each. Out of a total of 145 births, 74% were vaginal deliveries and 26% of pregnancies ended surgically 3. From a total of 145 diagnosed anomalies, the highest percentage was reported in GH Pančevo, 58.6%, then in the General Hospital Vršac, 38.6% and a certain percentage of the area of the South Banat District was referred for further diagnosis and therapy to Belgrade, GOC “Narodni Front”, 2.8%. 4. A total of 63.4% of detected anomalies in newborns were male and 36.6% were female. The average birth weight in new-borns with anomalies was 3334 g and the average body length was 51.32 cm 5. Patients were on average birth at 39 (± 1.42) gestation weeks. The highest percentage of patients (41.4%) gave birth in the 40th week of pregnancy. 14.5% of patients gave birth before the 38th week of gestation. II Analysis of registered anomalies 1. After examining the available medical records of the medical centres in the area of South Banat, a total of 145 registered cases of anomalies were found. Of these 114 anomalies (78.6%) were detected upon birth and 31 (24.4%) during pregnancy. 2. In 2010, there were 43 diagnosed anomalies (29.65%), in 2011 54 anomalies (37.24%), and in 2012 there were 48 anomalies (33.10%). 3. The largest number of detected anomalies was heart defects, 49 (34%). Anomalies of extremities were the second most frequent (30, 21%). The third place in the incidence belongs to the genitourinary tract anomalies (36, 25%). Face anomalies were seen in 9 cases (6%), CNS anomalies in 5 (3%) and head anomalies in 3 (2%). They were discovered by two chromosomal defects, multiple anomalies and anomalies of the gastrointestinal tract. One anomaly each was wound in the lungs, brain and chest (0.7%). 108 a) Postnatal anomalies 1. There were 114 (78.6%) postnatally detected anomalies. 61 cases of anomalies were diagnosed in GH Pančevo (53.5%) and 53 (46.5%) in GH Vršac. The average age of mothers was 33.37. The average gestational age was 38.96 weeks (± 1.24). The average body weight of new-borns was 3335 grams (± 520) a body length of 21.24 (± 3.01). 2. Most postnatal anomalies were detected in GH Pančevo 53.5% and 46.5% were detected in GH Vršac. Most detected anomalies were detected in 2012 - 37.7%. A total 37.7% postnatal anomaly were detected in 2012; 36% in 2011 and 26.3% in 2010 3. In cases where the anomalies were detected postnatally most of them (33) were genitourinary tract anomalies - 29%. In the second place were the anomalies of extremities (29), 25%, and in the third heart defects (28), 25%. These were followed by anomalies of the face (9) with 8%, of the CNS and of the abdomen (4) with 3%. One anomaly each was detected of: the head, GIT, chest, brain, lung and also one multiple anomaly and chromosomal abnormality was detected each. 4. In cases of anomalies detected postnatally most of the babies were referred for further examination with competent medical specialists, three died, groups of seven were sent to the Institute of Mother and Child and University Children’s Hospital and two were sent to the Institute for Neonatology. b) Prenatal anomalies 1. There were 31 (21.4%) prenatally detected anomalies. The average age of mothers in this group was 31.86. The average gestational age at birth with prenatal anomalies was 38.87 weeks (± 1.97). The average body weight of new-borns was 3327 grams (± 587) and the average body length of 51.48 (± 3.01). The average number of births compared to female patients was 1.54 (± 0.72). 2. Most prenatally detected anomalies were in GH Pančevo 24 (77.4%), and in GH Vršac 3 (9.7%). Four patients (12.9%) were referred for further treatment in GOC “Narodni Front” 3. Overall, 68% of prenatally detected anomalies were anomalies of the heart. A total of 10% were genitourinary tract anomalies and 7% were anomalies of the abdomen. An anomaly, each of CNS, extremities, face, multiple chromosomal abnormalities were detected. 4. A total of seven infants in whom the anomaly was detected were referred to an institution of higher rank for further treatment. Three infants were transported to the Institute for Mother and Child, two to the Institute for Neonatology and two to the University Children’s Hospital in Belgrade. One infant died 109 III Analysis of the anomalies by health institutions a) General Hospital Vršac 1. In the General Hospital Vršac, a total of 56 anomalies were diagnosed, which makes 38.62% of the total. 2. Broken down by years: the highest number of anomalies was in 2011 (46.42%) and in 2012 (35.71%). and the lowest was detected in 2010 (17.9%). In relation to the total number of births in the GH Vršac (source Republic Institute for Stats) anomalies recorded a slight increase in 2010, there were 486 births and 10 anomalies - 2.05%; in 2011 there were 463 births and 26 anomalies - 5.61 %, and in 2012 there were 486 births and 20 anomalies - 4.11%. 3. There were 5% prenatally detected anomalies, and 95% of anomalies were detected postnatally. Deliveries were in most cases vaginal, 73% and 27% of women gave birth by Caesarean section. 4. Most frequent were the genitourinary tract anomalies 26 (46%), and in extremities 15 (27%). There were 6 (10%) anomalies of the heart and 4 (7%) of the abdomen. One anomaly each was detected of the head, chest, brain, chromosomal abnormalities, and multiple anomalies b) General Hospital Pančevo 1. In the General Hospital in Pančevo 85 cases of anomalies were diagnosed, 58.6% of the total number of the analysed anomalies. Most anomalies appeared in 2010, 37.64%, followed by 2012 31.74% and least appeared in 2011 - 30.58%. 2. In relation to the total number of births (source - Republic Institute for Statistics) anomalies recorded a slight decrease in 2010 there were 1,195 deliveries and 32 anomalies - 2.67%; in 2011 there were 1,147 deliveries and 26 anomalies - 2.66%; in 2012 there were 1198 deliveries and 27 anomalies - 2.25%. 3. A higher percentage of the anomalies was detected postnatally 72%, and prenatally, they were seen in 24 pregnancies (28%). Deliveries were in most cases vaginal, 75% and 27% of women gave birth by Caesarean section. 4. Most heart defects were detected in GH Pančevo (43) 50%. Second in place were the anomalies of limbs (15) with 18%. 10 cases of anomalies of the urinary tract and face were detected (12%). There were (5) 6% CNS anomalies. One anomaly each was detected of the gastrointestinal tract and lungs. Before us is a number of big challenges, promising further breakthroughs not only in the detection and treatment of disorders, but also in the planning of conditions for healthy offspring. 110 The main objective of the prenatal diagnosis is not only to detect foetuses with congenital anomalies, but to implement intrauterine treatment or planning time, manner and place of birth. Timely detection of congenital anomalies requires a thoroughly thought of screening of the entire population. To achieve this, it is essential that the system of screening includes professionals involved in primary health care of pregnant women, i.e. gynaecologists. Adequate training of gynaecologists and the introduction of a standardized examination allow a massive and early detection of anomalies, when prevention of their harmful effects is more efficient. It is necessary, however, to know that there are limitations to prenatal diagnosis. A number of flaws cannot be diagnosed prenatally. Prenatal detection of anomalies in the fetes imposes an obligation on doctors to inform parents about the type of disease, to show them the prognosis and possibilities of treatment. In very difficult and complex anomalies, a question of abortion is raised as one of the options in completing the delivery. Today’s level of development of medicine, the introduction of complex surgical techniques and therapies is high. From this point of view, there are virtually no indications for termination of pregnancy. Experience, however, shows that even in the world largest centres children die due to anomalies, and that the children who are operated due to complex forms of the disease remain disabled for life, with a shortened lifespan. In addition, there is no balanced development of medicine in all countries and in all centres, and in making decisions one must take into account the results of the centre where the child is being treated It is clear that it is not possible to have a unique position, because it depends on each individual patient, environment, objective capacities to help the child in the country and the region. Applying the knowledge of developmental biology, which has examined the mechanisms of the genesis of congenital anomalies in great detail, enables the development of efficient mechanisms for the prevention of disorders. Tests on the earliest conditions of development of human embryos with the elimination of potentially harmful and the introduction of useful elements lie ahead of us. Initial steps have already been made with folic acid in the prevention of neural tube defect. There are also experiments with unsaturated fatty acids and arachidonic acid. Another major task is to define the pathophysiological mechanisms of foetalmaternal syndrome on the molecular and cellular level. This approach should allow the prevention of chronic disorders that are manifested after a latent period. Unlike today’s capacities of foetal medicine, it is necessary to reveal the mechanisms that would identify these disorders in their early stages, i.e. at the level of molecular and cellular disorders. Prevention of disorders, primarily by modifying the milieu of early development from the very oocyte fertilization; timely diagnosis, either pre-implantation and/or early invasive (molecular, cellular, biochemical, functional, morphological) diagnostics; and timely therapy (gene, medication, surgery) will in the future provide optimal antenatal medical treatment of the fetes. 111 The proposed preventive measures in the field of public health on the primary level, in order to reduce the risk of congenital anomalies are: - Promotional campaigns amongst general population, aimed at improving nutrition, avoiding the use of harmful substances - alcohol, tobacco and psychoactive substances, pregnancy planning, regular check-ups during pregnancy - adequate control of pre-existing chronic diseases of mothers - avoiding exposure to environmental harmful substances - the improvement involves vaccinations (Rubella, chickenpox, hepatitis B) - strengthening of health care systems through training of health professionals involved in the promotion of health; prevention of congenital anomalies, development of prenatal and postnatal diagnostics and therapy - forming a registry of congenital anomalies and chromosomal abnormalities - initiative to amend the legislation, registration, referral hierarchy, monitoring procedures and protocol We hope that this report on prenatally and postnatally diagnosed anomalies in the South Banat region for the period of three years (2010-2012.) including the proposals for reducing the risk of congenital anomalies, and improving prenatal detection; monitoring of pregnancies with congenital anomalies, service organizations; multi-disciplinary approach and organization of the registry with anomalies; interconnectedness of relevant services, will ultimately result in raising the level of health of the population. 112 APPENDIX 1 INDIVIDUAL REGISTRATION FORM FOR PRENATALLY DIAGNOSED ANOMALIES AND CHROMOSOMAL DEFECTS General information: Center / Clinic: ID number (MB / outpatient): Patient Name: Date of Birth: Gravidity: Parity: Personal history (diseases, therapy, surgery): Family history: Address: PIN Phone: NB: All information provided is strictly confidential, but needed to be able to locate the patient postnatally, in case it is necessary to obtain additional information about the event) PRENATAL DETECTION ULTRASOUND FINDINGS Gestation when the anomaly is diagnosed: Gestation when the previous ultrasound examinations was made: Type of anomalies (description): Additional anomalies and finding: Karyotype: NB: Indicate the karyotype regardless of whether prenatal or postnatal karyotyping performed) Additional analyzes (consultative ultrasound examination, echocardiography, MRI, relevant Laboratory tests (TORCH, Parvo B19, biochemical screening in the I / II trimester): PREGNANCY OUTCOME Termination of pregnancy Gestation Termination method (prostraglandin / instillation) Feticide DELIVERY Birth / stillbirth Gestation Mode of delivery Abnormalities seen after termination of pregnancy / childbirth: Findings of autopsy 113 APPENDIX 2 INDIVIDUAL REGISTRATION FORM FOR POSTNATALLY DIAGNOSED ANOMALIES AND CHROMOSOMAL ABNORMALITIES Center / maternity / pediatric services: ID number (MB): Mother’s name: Date of Birth: Gravidity: Parity: Personal history: Family history: Address: Phone: Child’s name: PIN: Gestation at birth: Apgar score at birth: Mode of delivery: NB: All information provided is strictly confidential, but needed to be able to locate the patient Postnatally, if necessary to obtain additional information about the event) Age of the child when diagnosed anomalies: Type of anomalies: Additional anomalies and findings: Karyotype: Additional analyzes (consultative ultrasound examination, echocardiography, MRI, relevant Laboratory tests (TORCH, Parvo B19, biochemical screening in the I / II trimester): General information: Center / Clinic: ID number (MB / outpatient): Patient Name: Date of Birth: Gravidity: Parity: Personal history (diseases, therapy, surgery): Family history: Address: PIN Phone: NB: All information provided is strictly confidential, but needed to be able to locate the patient postnatally, if necessary to obtain additional information about the event) Prenatal detection 114 ULTRASOUND FINDINGS The gestation when the anomaly diagnosed: Gestation when they made the previous ultrasound examinations: Type anomalies (description): Additional anomalies: Karyotype: NB: Indicate the karyotype regardless of whether prenatal karyotyping performed or postnatally) Additional tests (consultative ultrasound examination, echocardiography, MRI, relevant laboratory tests (TORCH, Parvo B19, biochemical screening in the I / II trimester): PREGNANCY OUTCOME Termination of pregnancy Gestation Termination method (prostaglandin / instillation) Feticide DELIVERY Birth / stillbirth Gestation Mode od delievery Abnormalities seen after termination of pregnancy / childbirth: Findings of autopsy APPENDIX 3 GROUP REGISTRATION FORM FOR PRENATALLY DIAGOSED ANOMALIES AND CHROMOSOMAL ABNORMALITIES Type No Gestation (weeks) Neural tube defects Skeletal defects Orofacial defects Anomalies of the thorax Anomalies of the gastrointestinal tract Anomalies of the heart Anomalies of the urogenital tract Anomalies of the anterior abdominal wall 115 live/stillbirth Postnatal detection Chromosomal abnormalities Types of syndromes Number Gestation (weeks) postnatal detection Postnatal detection Trizomy 21 Trizomy 18 Trizomy 13 Total number of anomalies: The total number of chromosomal abnormalities: NB: - Any anomalies should be presented separately under the appropriate system for each anomaly should show the cumulative number, and mean gestation at ultrasonic detection, or whether the detected postnatally - If there is a morphological abnormalities in chromosomal defects, it should be noted and shown separately so that it would not be counted twice APPENDIX 4 GROUP REGISTRATION FORM POSTNATALLY DIAGNOSED ANOMALIES AND CHROMOSOMAL ABNORMALITIES Types Number Gestation at birth (weeks) Live / still birth Gender Gestation at birth (GN) Gender Neural tube defects Skeletal defects Orofacial defects Anomalies of the thorax Anomalies of the gastrointestinal tract Anomalies of the heart Anomalies of the urogenital tract Anomalies of the anterior abdominal wall Chromosomal abnormalities Types of syndromes number Trizomy 21 Trizomy 18 Trizomy 13 Other 116 Total number of anomalies:The total number of chromosomal abnormalities: NB: - Any anomalies should be presented separately under the appropriate system for each anomaly planned to show the cumulative number and gestation at birth - If there are a morphological abnormalities in chromosomal defects, it should be noted and shown separately so that it would not have been counted twice. APPENDIX 5 PROPOSAL OF UNIFORM STATEMENTS OF ULTRASOUND - I TRIMESTER Name and surname: Year of birth: Personal history: Family history: Last menstrual period: Cycle time: The manner of conception: CRL: mm NT: mm BPD: mm HC: mm AC: mm FL: mm IT: Tricuspid regurgitation: yes / no Flow through d.venosus: normal / reverse flow Notes: APPENDIX 6 PROPOSAL OF UNIFORM STATEMENTS OF ULTRASOUND - II / III TRIMESTER Name and surname: Age: Cycle length: Date of last menstruation: Probable date of birth: The indication for ultrasound examination: Age at amenorrhea: GN Age at UZ: GN Number of fetuses: STP: yes / no Position: longitudinal / transverse / oblique A front part: 117 Placenta: forward / backward / holdings / high / low degree of maturity: I / II / III The amount of amniotic fluid: normal / increased / decreased AFI: mm Umbilical cord: the number of vessels: Biometrics: mm BPD / OFD mm / HC mm / Va mm / Vp mm / mm Hem / AC mm / mm FL / HL mm / CI / HC: AC AP pelvic diameter mm left / right mm Viewing anatomy: skull / brain / face / neck / spine / lung / four chambers of the heart / GIT / abdomen / spine / kidneys / extremities / genitals Cervical Length: mm Fetal weight: g Biophysical profile: Flow through a cerebri media: Flow through a.umbilikalis: Notes: Date: Doctor: APPENDIX 7 – GRAPHICAL DISPLAY OF THE RESULTS Graph. 1. Age delivered women Table 1. Age delivered women Age group N % 15-19 4 2,75 20-24 14 9,7 25-29 46 31,7 30-34 50 34,5 35-39 23 15,86 40-45 8 5,51 Total 145 100 118 Table 2. Deliveries N % Cumulative percentage I delivery 75 51,7 52,1 II delivery 47 32,4 84,7 III delivery 16 11,0 95,8 IV delivery 4 2,8 98,6 V delivery 1 ,7 99,3 VI delivery 1 ,7 100,0 Total 144 99,3 Graph 3. Mode of delivery Table 3. Modeand number of deliveries DELIVERY PARTUS SC Total PARITY Total I II III IV V VI 56 33 13 3 1 1 107 52,33% 30,84% 12,15% 2,8% 0,94% 0,94% 74 % 20 14 3 1 52,63% 36,85% 7,9% 2,63% 0 0 76 47 16 4 1 1 52,41% 32,41% 11,03 2,46% 0,69% 0,69% 119 38 26% 145 Graph 4. Number of anomalies in relation to the observed years Graph 5. Number of analyzed anomalies in relation to health institution Graph 6. Number of anomalies in relation to examined years 2010-2012 120 Graph 7 . Gender structure of fetuses and newborns with anomalies Table no. 4. Gender newborns in relation to a health institutions GENDER Total M F GAK „Narodni front“ 1 25% 3 75% 4 2,8% OB PANČEVO 48 56,47% 37 43,53% 85 58,62% OB VRŠAC 43 76,78% 13 23,22% 56 38,62% TOTAL 92 63,4% 53 36,6% 145 100% Table 5. Weight and length of the newborns Measure X SD Min Max Weight 3334 g 533,33 1120 g 4700 g Length 51,32 cm 3,126 37 cm 57 cm 121 Table 6. Distribution of birth weight Gram N % 1000-1500 2 1,38 1600-2000 0 0 2000-2500 6 4,14 2500-3000 22 15,17 3000-3500 57 39,31 3500-4000 45 31,03 4000-4500 11 7,59 ≥4500 2 1,38 Total 145 100 Garph 8. Gastation at delivery Table 7. Total number of anomalies N % Cumulative POSTNATALLY 114 78,6 78,6 PRENATALLY 31 21,4 100,0 Total 145 100,0 122 Graph 9. Total number of anomalies Table 8. Anomalies in relation to years and health institutions HOSPITAL Number anomalies by years Total 2010 2011 2012 GAK “Narodni front” 1 2 1 4 OB PANČEVO 32 26 27 85 OB VRŠAC 10 26 20 56 Total 43 54 48 145 Table 9. Anomalies in relation to health institutions and time of diagnosis DIAGNOSED Total POSTNATALLY PRENATALLY OB VRŠAC 53 3 56 OB PANČEVO 61 24 85 GAK “Narodni front” 0 4 4 Total 114 31 145 123 Table 10. Anomalies in relation to health institutions and time of diagnosis DIAGNOSED 2010 HOSPITAL POSTNATALLY PRENATALLY OB VRŠAC 10 0 10 OB PANCEVO 20 12 32 Narodni front 0 1 1 30 13 43 OB VRŠAC 24 2 26 OB PANCEVO 17 9 26 Narodni front 0 2 2 41 13 54 OB VRŠAC 19 1 20 OB PANČEVO 24 3 27 Narodni front 0 1 1 43 5 48 OB VRSAC 53 3 56 OB PANCEVO 61 24 85 Narodni front 0 4 4 114 31 145 Total 2011 HOSPITAL Total 2012 HOSPITAL Total Total HOSPITAL Total Total Graph 10. Diagnosed anomalies by systems 124 Table 11. Diagnosed anomalies by systems Frequency Percent Valid Percent Abdomen 4 2,8 2,8 CNS 5 3,4 3,4 Skeleton 30 20,0 20,0 GIT 2 1,4 1,4 Head 3 2,1 2,1 Thorax 1 ,7 ,7 Chromosomal abnormalities 2 1,4 1,4 Face 9 6,2 6,2 Brain 1 ,7 ,7 Multiple 2 1,4 1,4 Lungs 1 ,7 ,7 Heart 49 33,8 33,8 Genito - Urinary 36 24,8 24,8 Total 145 100,0 100,0 Table 12. Anomalies by systems and years YEARS SYSTEM Total 2010 2011 2012 Abdomen 1 1 2 4 CNS 1 2 2 5 Skeleton 10 9 11 30 GIT 1 1 0 2 Head 1 2 0 3 Thorax 0 0 1 1 Chromosomal abnormalities 0 1 1 2 Face 2 2 5 9 Brain 0 1 0 1 Multiple 1 1 0 2 Lungs 1 0 0 1 Heart 19 18 12 49 Urinary 6 16 14 36 43 54 48 145 Total 125 Graph 11. Anomalies by gender and health institutions Table 13. Anomalies – time of diagnosis DIAGNOSED SYSTEM Total POSTNATALLY PRENATALLY abdomen 2 2 4 CNS 4 1 5 limbs 29 1 30 GIT 2 0 2 head 3 0 3 thorax 1 0 1 chromosomal abnormalities 1 1 2 face 8 1 9 brain 1 0 1 multiple 1 1 2 lungs 1 0 1 heart 28 21 49 genito-urinary 33 3 36 114 31 145 Total 126 Table 14. Anomalies by system, health isntitutions and time of diagnosis HOSPITAL SYSTEM ABDOMEN CNS LIMBS GIT HEAD THORAX CHROMOSOMAL ABNORMALITIES FACE BRAIN MULTIPLE LUNGS HEART URINARY TOTAL OB VRSAC OB PANCEVO Narodni front Total POSTNATALLY 2 0 2 PRENATALLY 0 2 2 Total 2 2 4 POSTNATALLY 4 4 PRENATALLY 1 1 Total 5 5 POSTNATALLY 15 14 29 PRENATALLY 0 1 1 Total 15 15 30 POSTNATALLY 1 1 2 Total 1 1 2 POSTNATALLY 2 1 3 Total 2 1 3 POSTNATALLY 1 1 Total 1 1 POSTNATALLY 1 0 1 PRENATALLY 0 1 1 Total 1 1 2 POSTNATALLY 8 8 PRENATALLY 1 1 Total 9 9 POSTNATALLY 1 1 Total 1 1 POSTNATALLY 1 0 1 PRENATALLY 0 1 1 Total 1 1 2 POSTNATALLY 1 1 Total 1 1 POSTNATALLY 6 22 28 PRENATALLY 0 21 21 Total 6 43 49 POSTNATALLY 23 10 33 PRENATALLY 3 0 3 Total 26 10 36 POSTNATALLY PRENATALLY Total 53 3 56 61 24 85 127 0 4 4 114 31 145 Table 15. Outcomes of anomalies N % Died 3 2,1 Institute for Mother and Child, Belgrade 7 4,8 Neonatology Institute, Belgrade 2 1,4 University Children’s Hospital, Belgrade 7 4,8 126 86,9 Advised controls by the medical specialist Table 16. Diagnosed anomalies by health instituitions Health institution N % OB PANČEVO 61 53,5 53,5 OB VRŠAC 53 46,5 100,0 Total 114 100,0 Table 17. Postnatally diagnosed anomalies by years Year N % Cumulative 2010 30 26,3 26,3 2011 41 36,0 62,3 2012 43 37,7 100,0 Total 114 100,0 Graph 12. Postnatal anomalies and gender (M- male, Ž – female) 128 Graph. 13. Mode of delivery in postnatally diagnosed anomalies Table 18. Apgar score at birth, postnatally diagnosed anomalies N % 5 1 ,9 6 1 ,9 7 1 ,9 8 4 3,5 9 50 43,9 10 57 50,0 Total 114 100,0 Table 19. Parity of mothers, postnatally diagnosed anomalies N % 1 57 50,0 2 38 33,3 3 12 10,5 4 4 3,5 5 1 ,9 6 1 ,9 Total 113 99,1 Table 20. Birth weight and length, postnatally diagnosed anomalies Measure X SD Min Max physical weight 3335 g 520,33 1350 g 4700 g physical length 51,24 cm 3,01 40 cm 57 cm 129 Graph 14. Postnatally diagnosed anomalies by systems Table 21. Postnatally diagnosed anomalies by health institutions N % Cumulative N FRONT 4 12,9 12,9 OB PANČEVO 24 77,4 90,3 OB VRŠAC 3 9,7 100,0 Total 31 100,0 Table 22. Prenatally diagnosed anomalies by years Year Frequency Percent Cumulative Percent 2010 13 41,9 41,9 2011 13 41,9 83,9 2012 5 16,1 100,0 Total 31 100,0 Graph 15. Prenatally diagnosed anomalies by gender 130 Graph. 16. Mode of delivery in prenatal anomalies Table 23. Apgar score at birth, prenatally diagnosed anomalies N % Cumulative 6 1 3,2 32,3 7 1 3,2 35,5 8 3 9,7 38,7 9 16 51,6 48,4 10 10 32,3 100,0 Total 31 100,0 Table 24. Parity, prenatally diagnosed anomalies N % Cumulative 1 18 58,1 58,1 2 9 29,0 87,1 3 4 12,9 100,0 Total 31 100,0 Table 25. Birth weight and length, prenatally diagnosed anomalies Measure X SD Min Max Physical weight 3327 g 587,6 1250 g 4500 g Physical length 51,48cm 3,55 37 cm 55 cm 131 Graph 17. Prenatal anomalies by systems Graph 18. Anomalies in General hospital Vršac by years Graph 19. Anomalies in General hospital Vršac, gender Graph 20. Prenatal and postnatal anomalies, General hospital Vršac 132 Graph 21. Mode of delivery General hospital Vršac Graph 22. Anomalies by systems, General hospital Vršac Graph 23. Anomalies in General hospital Pančevo by years Graph 24. Prenatal/postnatal anomalies, General hospital Pančevo 133 Graph 25. Anomalies in General hospital Pančevo, gender structure Graph 26. Mode of delivery General hospital Pančevo Graph 27. Anomalies by systems, General hospital Pančevo Table 26. Anomalies in AK “Narodni front” Year p gn as modus TM TD Diagnosis System Outcom 2010 2011 F F 37 30 6 7 SC SC 2780 1120 47 37 abdomen abdomen Surgeon EX 2011 F 36 9 partus 2300 45 Gastroschisis Gastroschisis. IUGR Atresio esophagi. Fistula trachoesophagealus susp. Sy L.down multiple 2012 M 39 10 partus 2900 50 chromosomal abnormalities Genetic Sy L.down 134 YEARS * HOSPITAL * SYSTEM GENDER SYSTEM abdomen CNS limbs GIT head thorax chromosomal abnormalities face brain multiple lungs heart urinary Total M 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 Total 2010 2011 Total 2012 Total 2011 2012 Total 2010 2011 2012 Total 2011 Total 2010 2011 Total 2010 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total F 1 1 2 4 0 1 1 2 4 1 7 12 1 0 1 1 1 1 3 6 8 4 18 0 1 1 1 2 3 1 1 0 1 1 0 0 2 2 1 0 1 2 2 3 7 1 1 1 1 2 1 1 6 9 5 20 1 1 0 2 17 18 18 53 13 9 7 29 5 15 14 34 26 36 30 92 135 Total 1 1 2 4 1 2 2 5 10 9 11 30 1 1 2 1 2 3 1 1 1 1 2 2 2 5 9 1 1 1 1 2 1 1 19 18 12 49 6 16 14 36 43 54 48 145 YEARS * HOSPITAL * SYSTEM HOSPITAL SYSTEM ABDOMEN CNS LIMBS GIT HEAD THORAX CHROMOSOMAL ABNORMALITIES FACE BRAIN MULTIPLE LUNGS HEART URINARY TOTAL OB VRSAC 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 Total 2010 2011 Total 2012 Total 2011 2012 Total 2010 2011 2012 Total 2011 Total 2010 2011 Total 2010 Total 2010 2011 2012 Total 2010 2011 2012 Total 2010 2011 2012 Total OB PANCEVO 0 0 2 2 Narodni front 1 1 0 2 1 2 2 5 5 5 5 15 1 0 1 1 0 1 5 4 6 15 0 1 1 0 2 2 1 1 1 0 1 0 1 1 2 2 5 9 1 1 1 0 1 0 1 1 1 1 17 15 11 43 4 2 4 10 32 26 27 85 2 3 1 6 2 14 10 26 10 26 20 56 136 1 2 1 4 Total 1 1 2 4 1 2 2 5 10 9 11 30 1 1 2 1 2 3 1 1 1 1 2 2 2 5 9 1 1 1 1 2 1 1 19 18 12 49 6 16 14 36 43 54 48 145 137 Institution OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 1987 1986 1977 1990 1984 1986 1988 1987 1986 1977 1990 1987 1983 1982 1985 1980 1982 1992 1987 1985 1982 YEAR OF BIRTH 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 M F M M F M M M M M M M M F F F F F M M 2010 2010 M Gender 2010 Date 38 40 40 40 37 40 39 40 40 40 38 38 40 40 40 37 40 39 40 40 40 GN 9 9 10 10 8 9 9 9 9 9 9 8 9 9 9 9 9 9 9 10 9 AS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS SC SC PARTUS PARTUS SC PARTUS Mode 2 1 1 1 2 1 1 2 2 2 3 1 2 1 1 1 2 1 1 2 2 Parity 3000 3300 3100 3750 3800 3600 3800 3650 4000 2100 3450 3850 2700 2950 3100 3980 3300 3750 3350 2400 3600 TM 51 52 50 55 54 54 54 54 55 45 54 55 47 51 50 55 53 53 40 50 53 TD PRENATALLY PRENATALLY PRENATALLY PRENATALLY PRENATALLY PRENATALLY PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY Diagnosed TABULAR DISPLAY OF ANOMALIES DIAGNOSED IN 2010. heart VSD ET REL ST ao I a PULM. SUSP KOARRKTATIONI PROTOK CARDIOLOGIST CARDIOLOGIST CARDIOLOGIST CARDIOLOGIST CARDIOLOGIST CARDIOLOGIST IMD BGD heart heart heart heart heart heart heart ASD ASD/II, DAP, ST.A.PULM. I AO VCC VCC ASD VSD VCC CARDIOLOGIST heart VSD, MUSCUL, DAP CARDIOLOGIST OPERATED SPINA BIFIDA CARDIOLOGIST urinary URETROHYDRONEPHROSIS CNS UROLOGIST urinary HERNIA ING L.DEX heart SURGEON face VCC PLASTIC SURG. face UROLOGIST urinary PALATOSHISIS SURGEON limbs IMDB CHEILOGNATOPALATOSCHISIS HAEMANGIOMA CONG CRURIS L.DEX. URETRO HYDRONEPHROSIS L.DE. XpYELON DUPLEX heart face DEFORMATIO AURICULAE L.DEX. TORTICOLIS L.DEX. Paresis fac.l.dex VCC limbs POLYDACTILIA limbs SYNDACTILIO DIG II-III PEDIS BIL Outcome System Anomaly 138 OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC N FRONT 35 36 37 38 39 40 41 42 43 OB PANČEVO 30 OB VRŠAC OB PANČEVO 29 34 OB PANČEVO 28 OB VRŠAC OB PANČEVO 27 33 OB PANČEVO 26 OB PANČEVO OB PANČEVO 25 OB PANČEVO OB PANČEVO 24 31 OB PANČEVO 23 32 OB PANČEVO 22 1991 1987 1983 1981 1985 1993 1986 1993 1990 1972 1974 1976 1984 1971 1989 1987 1992 1981 1979 1984 1986 1988 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 2010 F M F F M M M F M M M M F F M F F M F M M F 37 40 38 40 40 37 38 38 37 38 36 39 40 40 40 38 37 39 40 40 40 38 6 10 7 10 9 9 10 10 10 10 10 9 9 10 10 9 9 10 10 10 9 9 SC PARTUS SC SC PARTUS PARTUS SC PARTUS PARTUS PARTUS SC PARTUS SC SC SC SC SC PARTUS PARTUS SC PARTUS PARTUS 1 3 1 3 2 2 1 1 2780 2550 2400 3450 3450 3300 4000 3100 2950 4250 3 1 3300 3140 3290 3200 3750 3710 3820 4500 3550 3500 3850 3050 2 1 1 1 1 3 1 1 2 2 3 1 47 49 43 53 53 52 53 51 51 57 52 50 50 51 51 50 50 50 53 53 53 52 GIT urinary limbs limbs POLYDACTILIA Conjuctio digitorum pedis bill. Cephalohaemathoma par. L.dex. Traumaticam CARDIOLOGIST UROLOGIST IMD, EX UDK UROLOGIST SURGEON limbs multiple limbs urinary heart heart limbs urinary abdomen SYNDACTILIA DIG III ET IV MANUS BILL CRYPTOSHISMUS L.SIN VITIUM CORDIS CONG IN OBS VSD.ASD. DEFORMATI EXTREMITAS. DEFORMATIO CRANI. CRYPTORSHISMUS GASTROSCHISIS PRENATALLY TALIPES CALC. VCC. SY DOWN HERNIA ING LDEX POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY ATRESIO ANI POSTNATALLY limbs CARDIOLOGIST heart limbs PES CALCAVALGUS SIN ET CALC DEX lungs VCC SUSP CARDIOLOGIST PEV. CONG.BILL CARDIOLOGIST heart heart CARDIOLOGIST NEONATOLOGY BG heart heart CARDIOLOGIST heart POSTNATALLY KAH ASD VCC VCC VSD, ST.VKS ASD, VSD, ST.A.PULM POSTNATALLY POSTNATALLY PRENATALLY PRENATALLY PRENATALLY PRENATALLY PRENATALLY 139 OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO 2 3 4 5 6 7 8 OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO 11 12 13 14 15 16 17 18 19 20 OB PANČEVO OB PANČEVO 9 10 OB PANČEVO OB PANČEVO 1 Institution 2011 2011 2011 2011 2011 1984 1985 1985 1983 1989 1986 1986 2011 2011 2011 2011 1982 1985 2011 1981 2011 2011 2011 1988 1984 1988 2011 1992 2011 2011 1983 1980 2011 2011 1990 1989 2011 2011 1988 1983 Year of Date Birth M M F F M F F M M M F F F M M F M M M F Gender 39 39 39 40 40 40 39 40 38 39 39 38 38 38 38 40 40 40 37 40 GN 9 9 10 10 10 9 9 9 9 9 9 9 9 9 10 9 9 9 9 9 AS PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC PARTUS PARTUS PARTUS PARTUS PARTUS Mode 1 2 2 1 1 3 1 1 1 1 1 4 2 2 1 4 2 1 2 1 Parity 3450 3650 3300 3800 3100 4700 2800 3500 2950 3150 3050 3200 2950 4200 4050 2600 3700 3300 4250 2950 TM 53 54 52 53 51 57 49 54 51 52 51 51 50 57 54 49 55 52 57 50 TD VCC AGENESIO RENI L.DEX ATRESIO CHOANAE L.SIN TU SUBLINGNALIS HYPOSPADIO PRENATALLY POSTNATALLY POSTNATALLY PRENATALLY PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY heart ASD, VSD, SUBAORTNI VCC heart heart heart ASD heart VCC ASD, VSD, KORONARNA CA.FISTULA, DAP VCC heart heart heart VCC ASD limbs limbs face heart face urinary urinary heart limbs VCC heart PEDES METATHARSOVARI BILL limbs limbs System VCC OBS PES VARUS GRAVIS L.SIN MALFORM.CONG. ALIAE Anomaly RES POSTNATALLY CALEABEOVALYNS SIN (GIPS) POLYDACTILIA DIG POSTNATALLY PEDIS SIN. POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY Diagnosed TABULAR DISPLAY OF ANOMALIES DIAGNOSED IN 2011. UDK cardiologist cardiologist cardiologist cardiologist cardiologist cardiologist IMD BG cardiologist IMD BG IMD BG urologist cardiologist cardiologist Outcome 140 OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 OB PANČEVO OB PANČEVO 21 22 23 2011 1983 2011 2011 1974 2011 2011 2011 2011 1987 1984 1988 1982 1986 2011 2011 1992 1984 2011 1984 2011 2011 1983 1979 2011 1980 2011 2011 1970 1995 2011 2011 1979 1986 2011 2011 2011 2011 2011 1988 1981 1874 1977 1976 M M M M M M M M M M M F F F M M M F M F F F 40 40 38 41 39 40 40 40 40 38 40 39 38 35 39 40 40 39 40 40 40 40 9 10 10 10 10 10 10 10 10 9 9 10 10 5 10 10 9 10 9 8 8 9 PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC SC PARTUS PARTUS PARTUS PARTUS SC PARTUS SC 5 2 1 2 1 6 2 1 2 1 1 1 4 2 2 3 2 1 1 2 1 3200 3050 2950 4200 4050 2600 3700 2950 4500 3550 3500 3980 3750 1350 3600 3650 3310 3330 3500 3550 3000 3100 51 51 50 57 54 49 55 50 50 53 53 55 53 40 53 50 50 49 54 55 52 52 VCC. STIGMATA DEGENEROTIONES ATRESIO RECTO CONGENITALIS HYPOSPADIO GLANDIS CRYPTODISMUS BILL HYPOSPADIO GLANDIS HYPOSPADIO GLANDIS HYPOSPADIO GLANDIS CRYPTODISMUS L.DEX HYPOSPADIA POSTNATALLY CRYPTORSCHISMUS BILL POSTNATALLY PES METATARSUS BILL urinary limbs limbs urinary abdomen urinary urinary urinary urinary urinary urinary urologist urologist urologist urologist chromosomal abnormalities SY L.DOWN SUSP urinary HYDRONEPHROSIS L.DEX UDK EX surgeon brain limbs abdomen CNS cardiologist cardiologist cardiologist UDK ANENCEPHALIA HAEMANGIOMA SUPRAAURICU.L.DEX METATARSUS VARUS BIL SPINA BIFIDA HYDROCEPHALUS CNS heart ASD,VSD VCC heart heart heart ASD POSTNATALLY PES METATARSUS BILL POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY PRENATALLY POSTNATALLY POSTNATALLY PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY PRENATALLY POSTNATALLY PRENATALLY PRENATALLY PRENATALLY PRENATALLY 141 OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC OB VRŠAC N FRONT N FRONT 43 44 45 46 47 48 49 50 51 52 53 54 1982 2011 2011 2011 1989 1983 2011 1997 2011 1985 2011 1977 2011 2011 1982 1980 2011 1974 2011 2011 1987 1990 2011 1996 F F M M M M M M M M M M 36 30 40 40 37 37 40 39 38 39 37 40 9 7 10 10 10 10 9 10 10 10 10 6 PARTUS SC PARTUS PARTUS PARTUS PARTUS SC SC PARTUS PARTUS SC PARTUS 1 2 1 3 3 1 2 2 1 3 1 1 2300 1120 2850 3100 3500 3100 3000 3550 3650 3500 4700 3150 45 37 50 51 54 52 52 55 54 54 57 52 PRENATALLY PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY heart abdomen multiple VSD/ASD GASTROSCHISIS. IUZR ATRESIO ESOPHAGI. FISTULA ACHOESOPHAGEALUS SUSP. sY L.DOWN urinary urinary TU SCROLATIS DEX CONG CRYPTORSHISMUS urinary head urinary heart heart limbs urinary HYDRONEPHROSIS CONG.L.DEX. HYPOSPADIA GLANDIS. ICTERUS NEONATI AGENESIO AURICULAE AURIS DEX. ASIMETRIA FACEI. ICTERUS NEONATI VSD MUSCULANS. ASD TIP SEC METATARSUS VARUS BIL. CAPUT SUCEDANEUM PART. ICTERUS NEONATI VSD muskularni, ASD tip FOA POSTNATALLY HYPOSPADIA GLANDIS EX 142 OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB OB OB OB OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO OB PANČEVO 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 PANČEVO PANČEVO PANČEVO PANČEVO OB PANČEVO 1 Institution 1984 1981 1988 1987 1990 1985 1978 1981 1981 1975 1986 1981 1979 1988 1970 1986 1978 1987 1976 1983 Year of Birth 2012 M M M M F 2012 2012 2012 2012 M M M M M 2012 2012 2012 2012 2012 F F 2012 2012 F F F F M F F M Gender 2012 2012 2012 2012 2012 2012 2012 2012 Date 40 39 38 38 39 38 41 41 39 41 38 39 39 39 39 39 38 41 40 37 GN 10 9 9 10 9 9 9 9 10 10 9 9 9 9 9 9 8 9 9 9 AS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS SC SC PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS PARTUS Mode 1 2 2 2 1 1 4 1 2 1 1 1 1 1 3 2 2 1 1 1 Parity 2890 3330 3310 3320 3500 3100 3430 3650 3550 3280 3380 3310 3330 3500 3100 2990 3550 3450 3450 3120 TM 49 51 51 50 51 50 49 49 50 50 49 52 50 51 50 49 50 50 48 48 TD face CHELIOPALATOGNATOSCHISIS VCC SUSP VSD POSTNATALLY ASD, SUSP L.DOWN. FOA. REL ST.A. PULM HYPOSPADIA POSTNATALLY HERNIA ING.L.DEX POSTNATALLY PED CALE POSTNATALLY POSTNATALLY POSTNATALLY HERNIA ING.L.DEX POSTNATALLY SCHISIS PALATIS SEC TOTALIS PEV BILL POSTNATALLY heart limbs urinary urinary heart face limbs urinary limbs urinary HYPOSPADIA POSTNATALLY face POLYDACTILIA L.SIN CNS SPINA BIFIDA limbs ATRESIO MEATI AC EXT L.DEX.CONG PES CALCANEOVALGUS DEX heart heart face VCC SUSP limbs POLYDACTILIA L.DEX. face HAEMANGIOMA NA..ET LABII ORIS SUSP CONG. HAEMATHOMA CUTIS DEG.THOROCIS ANT HAEMANGIOMA CONG. CAPISTIS ET FACEI L.SIN CNS SPINA BIFIDA Outcome System Anomaly POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY PRENATALLY PRENATALLY PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY Diagnosed TABULAR DISPLAY OF ANOMALIES DIAGNOSED IN 2012. 143 OB PANČEVO OB PANČEVO OB OB OB OB 22 23 24 25 26 27 OB VRŠAC OB VRŠAC OB VRŠAC OB OB OB OB OB OB OB VRŠAC OB VRŠAC 34 35 36 37 38 39 40 41 42 43 44 VRŠAC VRŠAC VRŠAC VRŠAC VRŠAC VRŠAC OB VRŠAC 33 OB VRŠAC 31 OB VRŠAC OB VRŠAC OB VRŠAC 29 30 32 OB VRŠAC 28 PANČEVO PANČEVO PANČEVO PANČEVO OB PANČEVO 21 1977 1981 1976 1980 1983 1980 1989 1984 1981 1986 1994 1989 1983 1978 1996 1981 1978 1980 1979 1977 1976 1980 1984 1985 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 2012 M F M M M M M M M F F 3 M M M F M M F F M M M M 38 37 40 39 37 40 39 40 40 37 39 39 39 39 39 37 37 40 40 39 39 40 40 40 10 10 10 10 10 10 10 10 10 8 9 10 10 10 10 10 10 10 9 10 9 10 10 10 PARTUS PARTUS PARTUS SC PARTUS SC PARTUS SC PARTUS PARTUS PARTUS PARTUS SC PARTUS SC PARTUS PARTUS PARTUS PARTUS SC SC SC PARTUS SC 3 1 3050 3000 3650 3800 3600 3800 3750 3100 4000 2 3 1 2 1 1 2 2100 3450 3850 2700 2950 3300 3100 2400 3120 3500 3330 2950 3480 3320 2790 1 1 2 2 1 1 3 2 1 2 2 1 1 1 2 52 51 54 54 54 54 55 50 55 45 54 55 47 51 53 50 50 50 50 50 48 50 49 49 POSTNATALLY urinary CRYPTORSCHISMUS L.DEX POSTNATALLY HYPOSPADIA PENOSEROTALIS CRYPTORSCHISMUS L.DEX POSTNATALLY heart CRYPTORSCHISMUS L.DEX POSTNATALLY urinary urinary urinary urinary urinary urinary urinary limbs limbs limbs urinary limbs urinary abdomen thorax MALFORMATIONIS SEPTI CORDIS CONG HYPOSPADIA GLANDIS POSTNATALLY POSTNATALLY AGENESIO RENIS IN OBS CRYPTORCHISMUS L.DEX PRENATALLY HYPOSPADDIA GLANDIS DEFORM. MANUS DEX. IUGR PES EQUINOVARUS L.DEX. PES EQUINOVARUS L.DEX. HYPOSPADIA CORPORIS PENIS POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY HERNIA ABD POSTNATALLY SYNDACTILIA DIG ii ET III MANUS SIN CRYPTORCHISMUS L.SIN POSTNATALLY PECTUS EXCAVATUM ASD I ST.AO POSTNATALLY POSTNATALLY ASD GEM II POSTNATALLY VCC heart heart heart heart VCC POSTNATALLY IMDB heart ASD I (ASD II). AV CANALIS PARTIALIS IMD UDK heart ASD.VSD. PERIMEMBR. ST.A.PUL.AGENESIO RENIS DEX UDK heart ASD.VSD.ST AO. ST.A.PULM POSTNATALLY POSTNATALLY POSTNATALLY POSTNATALLY 144 OB VRŠAC OB VRŠAC OB VRŠAC N FRONT 45 46 47 48 1981 1979 1981 1976 2012 2012 2012 2012 M F F F 39 36 39 40 10 10 8 10 PARTUS PARTUS SC PARTUS 1 1 2 3 2900 2800 3300 3850 50 49 52 53 PRENATALLY POSTNATALLY POSTNATALLY POSTNATALLY abdomen chromosomal abnormalities SY L.DOWN HERNIA ABD limbs POLYSINDACTILIA PED MANUS BILL limbs DIGITUS MANUS ACCESER.L.SIN LITERATURA LITERATURE • Annual report 2012. 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Ultrasound in Obstetrics and Gynecology 2005; 25(5): 483-488. • World Health Organization. Congenital anomalies. Fact sheet No 370. October 2012 (http://www.who.int/mediacentre/factsheets/fs370/en/index.html) 147 CIP - Каталогизација у публикацији Библиотека Матице српске, Нови Сад 612.64:616-07(497.113 Vršac) 612.64:616-07(498 Timisoara) НОВАКОВ-Микић, Александра Razvijanje regionalnog prekograničnog sistema dijagnostičkih centara za prenatalnu dijagnostiku fetalnih malformacija na području Temišvara i Vršca: ekspertski izveštaj = The development of a regional cross-border system of excellency medical centres specialised in the prenatal diagnosis of fetal malformations in the Timisoara-Vrsac area: expert report / autori, authors Aleksandra Novakov Mikić, Aleksandar Ljubić. - Vršac : Opšta bolnica Vršac, 2015 (Beograd : Kaktus print). - 151 str. : ilustr. ; 30 cm Uporedo srp. tekst i engl. prevod. - Tiraž 300. Bibliografija. ISBN 978-86-918653-0-6 1. Љубић, Александар [аутор] a) Феталне малформације - Пренатална дијагностика - Истраживања Вршац b) Феталне малформације - Пренатална дијагностика Истраживања - Темишвар COBISS.SR-ID 294872327 Ulažemo u našu budućnost! IPA program prekogranične saradnje Rumunija – Republika Srbija je finansiran od strane Evropske unije u okviru instrumenta za predpristupnu pomoć (IPA) sufinansiran od strane država učesnica programa. Ime projekta: „Razvijanje regionalnog prekograničnog sistema dijagnostičkih centara za prenatalnu dijagnostiku fetalnih malformacija na području Temišvara i Vršca” Izdavač: Opšta bolnica „Vršac”, Vršac Datum objavljivanja: novembar 2014. Sadržaj ovog materijala ne predstavlja zvanični stav Evropske unije. U slučaju pritužbi, kontaktirajte nas slanjem e-maila na adresu: [email protected] www.romania-serbia.net
