Alberta Congenital Anomalies Surveillance System

Transcription

Alberta Health
Alberta Congenital Anomalies Surveillance
System: Tenth Report
1997 – 2011
Surveillance and Assessment Branch
March 2014
Suggestion Citation:
Alberta Health, Surveillance and Assessment. Alberta congenital anomalies surveillance system: Tenth report,
1997-2011. Edmonton: Government of Alberta, 2014
For more information contact:
Surveillance and Assessment Branch
Health System Accountability and Performance
Alberta Health
PO Box 1360 Stn Main
Edmonton, AB T5J 2N3
Email:
Website:
[email protected]
www.health.alberta.ca
© 2014 Government of Alberta
Tenth Report
1997 – 2011
Prepared by:
R.B. Lowry, MD, DSc, FRCPC
B. Sibbald, BA, BN, MSc
T. Bedard, BSc, MPH
Acknowledgements
The Alberta Congenital Anomalies Surveillance System (ACASS) receives funding from Alberta
Health for the on-going collection of data on congenital anomalies in infants less than one year
of age in Alberta. ACASS is located at the Alberta Children’s Hospital in Calgary and receives
in-kind support from Alberta Health Services, Calgary Zone. The success of ACASS also
depends upon the interest and activities of many people including hospital health records
personnel, unit clerks, nurses, clinic co-ordinators and physicians. Many physicians are
contacted by letter in order to obtain additional clarifying information and their prompt replies are
appreciated.
The following agencies and individuals are acknowledged for their contribution to the production
of this report:
ACASS
R.B. Lowry, MD, Medical Consultant
B. Sibbald, MSc, Manager
T. Bedard, MPH, Research Assistant
J. Anderson, Secretary
Surveillance and Assessment, Alberta
Health
K. Ness, Executive Director
L. Svenson, Director, Epidemiology and
Surveillance
M. Sanderson, Manager, Surveillance
Outcomes
K. Atkinson, Administrative Support
Alberta Registries, Vital Statistics
L. Speakman, Executive Director
M. Bichai, Director
J. Traill, System Support Administrator
G. Brese, Vital Statistics Specialist
Advisory Committee
F. Bernier, MD, FRCPC, Medical Genetics
M. Brindle, MD, FRCSC, Paediatric Surgery
M-A Bründler, MD, Paediatric Pathology
J. Harder, MD, FRCPC, Paediatric
Cardiology
G.N. Kiefer, MD, FRCSC, Paediatric
Orthopaedics
J. Midgley, MD, FRCPC, Paediatric
Nephrology
H. Sarnat, MD, FRCPC, Paediatric
Neurology
R. Sauve, MD, FRCPC, Neonatology and
Community Health Sciences
C. Trevenen, MD, FRCPC, Paediatric
Pathology (retired)
R. Douglas Wilson, MD, FRCSC,
Perinatology/Obstetrics
Alberta Health, Surveillance and Assessment Branch
2014
ACRONYMS FOR ORGANIZATIONS MENTIONED IN THE REPORT
ACASS
AHS
Alberta Health Services
www.albertahealthservices.ca
AH
Alberta Health
CCASN
Canadian Congenital Anomalies Surveillance Network
http://www.phac-aspc.gc.ca/ccasn-rcsac/index-eng.php
CCASS
CPSS
Canadian Congenital Anomalies Surveillance System
Canadian Perinatal Surveillance System
http://www.phac-aspc.gc.ca/rhs-ssg/
ICBDSR
International Clearinghouse for Birth Defects Surveillance and Research
www.icbdsr.org
NBDPN
National Birth Defects Prevention Network
www.nbdpn.org
PHAC
Public Health Agency of Canada
www.phac-aspc.gc.ca/index-eng.php
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Table of contents
Acknowledgements ..................................................................................................................1
1. ACASS Activities and Report Summary ..............................................................................4
2. Introduction ...........................................................................................................................6
2.1 HISTORY
.................................................................................................................................................. 6
2.2 PURPOSE OF A SURVEILLANCE SYSTEM ........................................................................................................ 6
3. Methodology..........................................................................................................................8
3.1 CASE DEFINITIONS ....................................................................................................................................... 8
3.2 CASE ASCERTAINMENT ................................................................................................................................ 9
3.3 QUALITY CONTROL MEASURES .................................................................................................................... 9
3.4 ANOMALY CODING ......................................................................................................................................10
3.5 DATA LINKAGE ...........................................................................................................................................10
3.6 CONFIDENTIALITY AND RELEASE OF DATA .................................................................................................10
3.7 EPIDEMIOLOGICAL AND STATISTICAL MEASURES .......................................................................................11
3.8 LIMITATIONS OF DATA AND ANALYSIS .......................................................................................................11
4. Patterns of Selected Congenital Anomalies in Alberta ....................................................12
4.1 BIRTH PREVALENCE – TIME TRENDS ...........................................................................................................12
4.2 SELECTED ANOMALIES ................................................................................................................................14
4.2.1 Selected Anomaly Definitions ................................................................................................................. 14
4.2.2 Neural Tube Defects ............................................................................................................................... 16
4.2.3 Microcephaly .......................................................................................................................................... 17
4.2.4 Hydrocepalus .......................................................................................................................................... 17
4.2.5 Anotia/Microtia ...................................................................................................................................... 18
4.2.6 Cleft Lip and Palate ................................................................................................................................ 18
4.2.7 Obstructive Genitourinary ...................................................................................................................... 22
4.2.8 Renal Agenesis/Hypoplasia .................................................................................................................... 22
4.2.9 Abdominal Wall Defects ......................................................................................................................... 23
4.2.10 Chromosome Anomalies ....................................................................................................................... 25
4.2.11 Limb Reductions ................................................................................................................................... 27
4.2.12 Anorectal Atresia/Stenosis .................................................................................................................... 27
4.2.13 Congenital Heart Disease (CHD) ......................................................................................................... 28
4.2.14 Oesophageal Atresia/Stenosis............................................................................................................... 30
4.2.15 Hypospadias and Epispadias ................................................................................................................ 31
4.3 SUMMARY .................................................................................................................................................32
5. SURVEILLANCE AND RESEARCH PROJECTS .................................................................33
5.1 SURVEILLANCE AND RESEARCH PROJECTS/COLLABORATIONS AND CONSULTATIONS/PAPERS ...................33
6. Appendices..........................................................................................................................35
APPENDIX A.1 FLOWCHART OF THE PROCESS OF ACASS DATA COLLECTION .................................................36
APPENDIX A.2 CONGENITAL ANOMALY(IES) REPORTING FORM (CARF) .........................................................37
APPENDIX A.3 ALBERTA CONGENITAL ANOMALIES SURVEILLANCE SYSTEM ANOMALY RATES .....................38
APPENDIX A.4 NUMBERS OF CASES, ANOMALIES AND ANOMALIES PER CASE 1997–2011 ...............................52
APPENDIX A.5 CHI TREND TABLE FOR REPORTED ANOMALIES 1997–2011 .....................................................53
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1. ACASS Activities and Report Summary
1. This is the tenth in a series of reports detailing the birth prevalence of congenital anomalies in
Alberta particularly the years 1997–2011 inclusive.
2. The International Classification of Diseases – 10th Edition (ICD-10-CA) has been adopted by
Alberta hospital reporting data systems and ACASS uses the Royal College of Pediatrics and
Child Health adaptation of ICD-10. The anomalies outlined in the National Birth Defects
Prevention Network’s Guidelines for Conducting Birth Defects Surveillance
(http://www.nbdpn.org/docs/NBDPN_Guidelines2008.pdf) are reported in this document along
with others that might be of interest. It should be noted that notwithstanding the reported
anomalies, all items from the ICD-10 “Q” codes as well as other sections such as disorders of
metabolism are monitored by ACASS. Data on such disorders can be provided to interested
parties upon request.
3. The numerator data includes not only live births and stillbirths, but also fetal losses <20 weeks
gestation with congenital anomalies. This differs from earlier reports where live births and
stillbirths only were used. Denominator data includes live births and stillbirths only. By including
fetal losses in the numerator, the reported rates should be more representative of true
congenital anomaly rates. Fetal losses have been ascertained since 1997 thus data are
reported from that year. Congenital anomalies data from 1980 onwards, can be accessed at
http://www.health.alberta.ca/newsroom/pub-pregnancy-birth.html and by request, however fetal
losses will not be included in the numerator.
4. Congenital anomaly rates have remained relatively stable over the years with fluctuations
occurring on a year to year basis. There are, however, some exceptions:
4.1. There is no significant trend in spina bifida rates from 1997-2011 although it appears that
rates might be on the rise somewhat after a significant drop from 1997-2002. Anencephaly
rates continue to decline although this trend is also not significant. The spikes in spina
bifida (2006) and anencephaly (2009) were reviewed and reported in our last report.
ACASS will continue to monitor the rates to determine whether these are true and
sustained increases, or simply factors of normal fluctuations in rates or of ascertainment.
4.2. Gastroschisis continues to show an increase and is particularly prevalent in young
mothers, which is consistent with worldwide observations from other jurisdictions (p.24).
4.3. Omphalocele rates are also increasing but these rates are driven by a higher frequency
found in higher maternal ages (i.e. 40 years of age and older) and because omphalocele is
more often associated with chromosome abnormalities, is it not unexpected therefore that
the rates would be higher in older mothers (p.24-25).
4.4. The increase in Down syndrome is likely attributable to the increased number of women
giving birth aged 35 years or older (p.26).
4.5. Trisomy 13 and Trisomy 18 are increasing, again likely attributable to advanced maternal
age at birth (p.26).
4.6. Microcephaly and hydrocephaly rates have increased significantly as have rates for
anotia/microtia (p.18-19).
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4.7. Obstructive genitourinary defects are also increasing, perhaps related to better reporting
and follow-up (p.23).
5. The percentage of births to women 35 years of age and over continues to increase with almost
seventeen per cent of women in this age category giving birth in 2011 compared to four per
cent in 1980.
6. The total number of Alberta births (live births and stillbirths) to Alberta residents has increased
from 36,797 in 1997 to 50,665 in 2011, a 37 percent increase over 15 years.
7. Although the formal Canadian Congenital Anomalies Surveillance Network (CCASN)
(http://www.phac-aspc.gc.ca/ccasn-rcsac/index-eng.php) has been disbanded (a Public Health
Agency of Canada (PHAC) initiative), members of ACASS continue to be involved on an
informal basis with the Canadian Congenital Anomalies Surveillance System (CCASS),
administered by the Maternal and Infant Health Section of PHAC. An ACASS member also
participates in the newly created External Advisory Committee for the Canadian Perinatal
Surveillance System (CPSS) whose mandate is to provide expert advice on national perinatal
health surveillance which will include issues involving congenital anomalies surveillance.
8. ACASS continues its affiliation with the International Clearinghouse for Birth Defects
Surveillance and Research (ICBDSR) (http://www.icbdsr.org/page.asp?p=9895&l=1) and has
participated in group studies in a number of congenital anomalies including craniofacial
defects, very rare defects, gastroschisis, holoprosencephaly and Down syndrome
ascertainment (see Surveillance and Research Projects, p.34).
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2. Introduction
This report provides updated data on congenital anomalies ascertained in Alberta from the
years 1997–2011 inclusive. For the current release, the anomalies outlined in the National
Birth Defects Prevention Network’s (NBDPN) Guidelines for Conducting Birth Defects
Surveillance (2004) are reported along with some others that might be of interest, however,
data on other anomalies can be provided upon request.
The numerator data includes all fetal losses <20 weeks gestation with congenital anomalies. This
differs from early reports where live births and stillbirths only were used. The reported rates should
be more representative of the true rates of congenital anomalies in Alberta. Fetal losses have been
ascertained since 1997 thus aggregate data are reported from that year forward. Congenital
anomalies data from 1980 onwards can be accessed from previous reports at
http://www.health.alberta.ca/newsroom/pub-pregnancy-birth.html; however fetal losses will not be
included in the numerator. Denominator data includes live births and stillbirths only.
2.1 History
The history of the Alberta Congenital Anomalies Surveillance System (ACASS) has been
described in previous reports. Since 1996, funding has been provided by Alberta Health,
Surveillance and Assessment Branch. ACASS continues to work closely with Alberta Vital
Statistics and relies on them for the provision of notifications of births, deaths and stillbirths
(see Case Ascertainment, p.10).
2.2 Purpose of a Surveillance System
Public health surveillance in general has been defined by the Centers for Disease Control and
Prevention (CDC) in Atlanta, Georgia as the ongoing, systematic collection, analysis and
interpretation of data (e.g., regarding agent/hazard, risk factor, exposure, health event)
essential to the planning, implementation and evaluation of public health practice, closely
integrated with the timely dissemination of these data to those responsible for prevention and
control.
The purposes and objectives of surveillance for congenital anomalies (CAs) are to:
1) provide reliable and valid data on the birth prevalence of congenital anomalies in Alberta;
2) investigate any significant temporal or geographic changes in the frequency of congenital
anomalies with a view to identifying environmental, and therefore, possibly preventable
causes;
3) measure trends;
4) assess the effectiveness of prevention (e.g., folic acid fortification or antenatal screening);
5) assist with health related program planning and development through the provision of
data;
6) participate in research into the etiology and natural history of birth defects;
7) assist with research through provision of congenital anomalies data; and
8) provide advice to health care professionals about congenital anomalies, especially with
respect to teaching and launching public health campaigns (e.g., folic acid campaign by
Community Health in Calgary).
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As well as the above, patterns or associations of malformations to determine whether they
belong to an existing or new syndrome complex can be explored.
A principle feature of a surveillance system is timeliness; however data collection and analysis
should not be accomplished at the expense of an accurate diagnosis. Data are collected to
the first birthday, and with the possibility of reporting delays, the data of a given calendar year
may not be complete until at least December 31 of the subsequent year although the cases
and anomalies are monitored as received.
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3. Methodology
3.1 Case Definitions
A congenital anomaly is an abnormality that is present at birth, even if not diagnosed until
months or years later. Most congenital anomalies are present long before the time of birth,
some in the embryonic period (up to the end of the seventh week of gestation) and others in
the fetal period (eighth week to term). The term “anomaly” covers all the major classes of
abnormalities of development, of which there are four major categories as follows:
Malformation – a morphologic defect of an organ, part of an organ or a larger region of the
body resulting from an intrinsically abnormal developmental process (e.g., spina bifida, cleft lip
and palate).
Deformation – an abnormal form, shape or position of a part of the body caused by
mechanical forces (e.g., extrinsic force such as intrauterine constraint causing some forms of
clubfoot).
Disruption – a morphologic defect of an organ, part of an organ or a larger region of the body
resulting from the extrinsic breakdown of, or an interference with, an originally normal
developmental process (e.g., an infection such as rubella or a teratogen such as thalidomide).
Dysplasia – the abnormal organization of cells into tissues and its morphologic result (e.g.,
Marfan Syndrome, osteogenesis imperfecta).
Other definitions related to pregnancy outcomes for the purposes of this report are as follows:
Live birth – a complete expulsion or extraction from the mother, irrespective of the duration of
the pregnancy, of a fetus in which, after expulsion or extraction, there is breathing, beating of
the heart, pulsation of the umbilical cord or definite movement of voluntary muscle (Alberta
Vital Statistics Annual review, 2000).
Stillbirth – a complete expulsion or extraction from the mother, after at least 20 weeks
pregnancy (≥20 weeks), or after attaining a weight of 500 grams or more (≥500 grams) of a
fetus in which, after the expulsion or extraction, there is no breathing, beating of the heart,
pulsation of the umbilical cord or unmistakable movement of voluntary muscle (Alberta Vital
Statistics Annual review, 2000).
Gestation – completed weeks of pregnancy at delivery.
Preterm birth (aka premature) – a birth before 37 weeks of gestation (<37 weeks).
Termination of Pregnancy (ToP) – for our purposes, any pregnancy loss before 20 weeks
gestation (<20 weeks), most of which are therapeutic terminations for congenital anomalies
but could include spontaneous abortions or intrauterine fetal deaths with fetal anomalies.
Anomaly definitions are based, for the most part, on those provided by the ICBDSR and
NBDPN.
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3.2 Case Ascertainment
An infant can be ascertained at any time up to the first birthday. Multiple ascertainment of the
same infant can occur and is encouraged, as this frequently improves the quality and reliability
of the data.
As several malformations may occur in the same infant, it is advantageous to allow each to be
reported so that groups of associated malformations may be studied. This, however, leads to
difficulties since the final tabulations may be reported as total malformations (anomaly rates)
or as the total number of malformed infants (case rates). The tables in Appendix A.3 (p. 40)
report anomaly rates.
ACASS obtains information about infants with congenital anomalies from a variety of
independent sources. Acquisition of additional reporting agencies is always a priority since the
use of multiple sources of information improves not only the ease but also completeness of
ascertainment as well as for verification of the diagnostic data. Appendix A.1 (p. 38) shows
the process of data collection at ACASS.
ACASS screens many Alberta Health and Alberta Vital Statistics documents for the presence
of a congenital anomaly including:
•
Notice of a Live Birth or a Stillbirth and Newborn Record often referred to as the
Physician’s Notice of Birth (NOB)
•
Medical Certificate of Stillbirth
•
Medical Certificate of Death
Also, ACASS screens a notification called the Congenital Anomalies Reporting Form (CARF,
Appendix A.2, p.39) that is completed by all acute care hospitals in the province on live
births, stillbirths, admissions or hospital deaths of infants under one year of age as well as
pregnancy losses involving one or more congenital anomalies. This form serves as the single
most important source of case ascertainment.
Since many children with congenital anomalies are not admitted to hospital, it is very
important to obtain out-patient information such as from the Calgary and Edmonton
Departments of Medical Genetics.
Ascertainment at a continued high level requires each hospital health record department and
each health care provider to co-operate with the system by notifying us as promptly as
possible. We are fortunate in having such co-operative agencies and personnel.
3.3 Quality Control Measures
When a copy of a reporting document reaches the ACASS office in Calgary, it is reviewed for
content by the Research Assistant and Manager. If the information is unclear, the Manager,
on behalf of the Medical Consultant, writes to the physician responsible for the case seeking
clarification. A stamped, addressed envelope is included with the letter and the physician is
asked to respond at the bottom of the letter thus making the mechanics of replying easy. The
response from physicians has been very satisfactory and usually this is sufficient to make a
decision whether to accept or reject an anomaly or case. Any questionable diagnosis that is
not confirmed is not entered into the database. Some cases also excluded contain diagnoses
that do not belong in a congenital anomaly system or are part of a normal developmental
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process such as a patent ductus arteriosus or undescended testes in a premature infant. Any
reports requiring a medical decision are reviewed with the Medical Consultant. Policy
decisions with respect to the acceptance or rejection of a case and its coding are referred to
the ACASS Advisory Committee. This body is comprised of a paediatric cardiologist,
neonatologist/epidemiologist, paediatric pathologist, medical geneticist (medical consultant)
with occasional input from a paediatric neurologist, paediatric nephrologist, paediatric
orthopaedic surgeon, paediatric general surgeon and a perinatologist/obstetrician.
3.4 Anomaly Coding
Coding is done at the Calgary office using the Royal College of Paediatrics and Child Health
(RCPCH) adaptation of the International Classification of Diseases, tenth edition (ICD-10).
Difficult cases are referred to the Medical Consultant (Medical Geneticist). In the past, we
were able to code only six anomalies per case but since 1997 we have been coding all eligible
anomalies reported to us. Of note, we have been updating our database as time permits, by
going back to the original reports and reviewing all codes for consistency with current coding
practices.
3.5 Data Linkage
Data from ACASS are linked to data from the Alberta Vital Statistics Birth Registry by the birth
registration number ensuring a unique identifier for each case entered into the database. This
is important to ACASS because we ascertain cases from multiple source, thus the unique
identifier reduces the risk of duplicate entries for a case.
It is hoped that future linkage will be possible with the Alberta Perinatal Health Programme
(APHP) by way of the personal health number to ascertain maternal risk factor data, such as
maternal smoking, drinking and use of street drugs during pregnancy for babies with
congenital anomalies. This linkage would enable both in-depth data analysis and
interpretation.
3.6 Confidentiality and Release of Data
Notifications of Congenital Anomalies are sent to the Surveillance and Assessment Branch,
Alberta Health, and from there to the ACASS office in Calgary where the database is
maintained. The notifications are handled by the Manager, Research Assistant, Secretary,
Clerk and Medical Consultant. The data are treated in a completely confidential manner and
the notifications are kept in locked files in a locked room. The database is secured by limited
access and is password protected. Should further clarification about a case or anomaly
become necessary, we communicate with the attending physician or the physician responsible
for ongoing care. Direct contact is never made with the family. When data are requested
from us, they are released in aggregate form with no personal identifiers.
Should record level data be required for research purposes, a request should be made to
ACASS, however such data are ultimately released through Alberta Health, Planning and
Performance Branch, Strategic Directions Division. In this situation, it would be appropriate to
first contact ACASS with an outline of the proposal to determine the feasibility of the study and
whether or not ACASS has the necessary data. An e-mail should then be sent to
[email protected] complete with the proposal and appropriate ethics approvals.
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3.7 Epidemiological and Statistical Measures
Unless otherwise stated, the birth defect rates presented in this report are calculated using the
following formulae:
ANOMALY (DEFECT) RATE =
Number of a particular congenital anomaly among live births + stillbirths + fetal losses X 1000
Total number of live births and stillbirths
CASE RATE =
Number of individual infants (live or stillborn) or fetuses with ≥ 1 congenital anomaly X 1000
Total number of live births and stillbirths
Confidence intervals (95 per cent) are also included because the rate obtained is actually only
a point estimate of the unknown, true population rate. The confidence interval provides
information about the precision of the estimate. Thus, the confidence intervals are an
estimated range of values within which there is a 95 per cent probability that the true
population rate will fall.
Chi Squared Linear Trend Analysis was performed and presented as appropriate.
3.8 Limitations of Data and Analysis
One of the major limitations of the surveillance system is that on its own, the information
provided to us does not allow studies to determine etiology. If increasing trends indicate there
is a potentially serious problem, then separate investigative studies need to be done.
However, it would be possible to conduct linkage studies with other data sources to explore
potential causes of specific birth defects.
The ACASS data are collected passively from Vital Statistics, hospitals, and other agencies
but are augmented by active ascertainment from physicians and labs, etc. The completeness
and accuracy of data are largely dependent on reporting.
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4. Patterns of Selected Congenital Anomalies in Alberta
4.1 Birth Prevalence – Time Trends
The following table and graphs of selected sentinel anomalies indicate the trends in congenital
anomaly rates in Alberta from 1997 through 2011. Sentinel anomalies are those which the
International Clearinghouse of Birth Defects Surveillance and Research (ICBDSR), of which
we are a member, watches worldwide with the rationale that they are quite easily identified
hence more accurately reported. See Appendix A.5 for other anomalies listed in the report.
Table 4.1.1
Chi Squared Linear Trend Analysis and p-values for Selected Anomalies
1997–2011 Inclusive (Live Births, Stillbirths & ToPs)
Anomaly
Trend Direction
Chi Squared Analysis
2
(χ LT)
p-value
Neural Tube Defects
No significant change
0.18
0.6714
Anencephaly
1.41
0.2351
Spina Bifida
0.44
0.5071
Hydrocephalus
Increasing
3.94
0.0472
Cleft Lip +/- Cleft Palate
Possible slight increase
3.72
0.0538
Cleft Palate
Decreasing
6.79
0.0092
Oesophageal Atresia/Stenosis
0.18
0.6714
Anorectal & Large Intestine
Atresia/Stenosis
Decreasing
12.03
0.0005
Hypospadias*
Increasing
10.29
0.0013
Epispadias*
2.35
0.1253
Renal Agenesis/Hypoplasia
2.31
0.1285
Limb Reductions - upper
0.18
0.6714
Limb Reductions - lower
0.003
0.9549
Gastroschisis
Increasing
13.33
0.0003
Omphalocele
Increasing
7.56
0.0060
Down Syndrome
Increasing
13.25
0.0003
Hypoplastic Left Heart Syndrome
1.02
0.3125
*Hypospadias and Epispadias calculated for male births only
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Table 4.1.2 presents a comparison of birth prevalence rates between ACASS and a selection
of other countries or regions as reported in the most recently published Annual Report of the
International Clearinghouse for Birth Defects Surveillance and Research, 2011 (with data through
2009).
Table 4.1.2
Anomaly
Selected Anomaly Rates for Alberta and Other Jurisdictions Reporting to
the ICBDSR, 2005-2009* Rates per 1000 Total Births, ToPs included.
Alberta
Western
Australia
Atlanta
Utah
Wales
Texas
Finland
Neural Tube
Defects
0.78
1.33
0.87
0.78
1.39
0.62
0.98
Anencephaly
0.23
0.56
0.31
0.27
0.49
0.25
0.32
Spina Bifida
0.42
0.60
0.44
0.42
0.67
0.36
0.47
Hydrocephalus
0.63
0.78
0.77
0.34
0.84
0.64
0.48
Cleft Lip +/Cleft Palate
1.30
1.17
0.97
1.31
1.20
1.05
1.15
Cleft Palate
0.65
0.92
0.52
0.65
0.89
0.57
1.41
Oesophageal
Atresia/Stenosis
0.22
0.46
0.22
0.30
0.29
0.21
0.41
Anorectal
Atresia/Stenosis
0.40
0.52
0.35
0.35
0.37
0.49
0.52
Hypospadias†
2.14
2.95
0.54
0.95
2.73
1.59
0.42
Limb
Reductions
1.12
0.68
0.46
0.67
0.92
0.55
0.70
Gastroschisis
0.52
0.41
0.44
0.52
0.61
0.58
0.32
Omphalocele
0.31
0.40
0.25
0.28
0.43
0.20
0.53
Down
Syndrome
2.18
2.78
1.64
1.44
2.24
1.34
2.99
Renal Agenesis
0.14
0.45
0.12
0.32
0.21
0.19
0.13
Hypoplastic Left
Heart
Syndrome
0.34
0.22
0.21
0.36
0.31
0.21
0.39
* http://www.icbdsr.org/filebank/documents/ar2005/Report2011.pdf
† Alberta, Western Australia, Wales and Finland report all hypospadias; Atlanta, Texas and Utah exclude
glanular or 1st degree hypospadias
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4.2 Selected Anomalies
4.2.1 Selected Anomaly Definitions
(Adapted from NBDPN guidelines: http://www.nbdpn.org/)
Abdominal Wall Defects
• Gastroschisis – a congenital opening or fissure in the anterior abdominal wall lateral
to the umbilicus through which the small intestine, and occasionally the liver and
spleen, may be herniated.
• Omphalocele – a defect in the anterior abdominal wall in which the umbilical ring is
widened, allowing herniation of abdominal organs, including the small intestine, part of
the large intestine, and occasionally the liver and spleen, into the umbilical cord. The
herniating organs are covered by a nearly transparent sac.
Anorectal Atresia Stenosis
Complete or partial occlusion of the lumen of one or more segments of the large intestine
and/or rectum.
Anotia/Microtia
• Anotia – absence of external ear and canal
• Microtia – hypoplasia of external ear
Chromosome Anomalies
• Trisomy 13 – aka Patau syndrome – the presence of three copies of all or a large part
of chromosome 13.
• Trisomy 18 – aka Edwards syndrome – the presence of three copies of all or a large
part of chromosome 18.
• Trisomy 21 – aka Down syndrome – the presence of three copies of all or a large part
of chromosome 21.
Cleft Lip and Palate
• Cleft Lip – a defect in the upper lip resulting from incomplete fusion of the parts of the
lip.
• Cleft palate – an opening in the roof of the mouth resulting from incomplete fusion of
the shelves of the palate.
Congenital Heart Disease
• Aortic valve stenosis – obstruction or narrowing of the aortic valve impairing blood
flow from the left ventricle to the aorta.
• Atrial Septal Defect (ASD) – opening in the septum that divides the right and left atria
of the heart.
• Coarctation of the aorta – narrowing of the descending aorta obstructing blood flow
from the heart to the rest of the body.
• Hypoplastic Left Heart Syndrome – a condition in which the structures on the left
side of the heart and the aorta are extremely small. Classically, this condition includes
hypoplasia of the left ventricle, atresia or severe hypoplasia of the mitral and aortic
valves, and hypoplasia and coarctation of the aorta.
• Tetralogy of Fallot – the simultaneous presence of a ventricular septal defect (VSD),
pulmonic stenosis, a malpositioned aorta that overrides the ventricular septum and
right ventricular hypertrophy.
14
•
2014
Ventricular Septal Defect (VSD) – opening in the septum that divides the right and
left ventricles of the heart.
Epispadias
Displacement of the opening of the urethra dorsally and proximally (on the top and closer to
the body) in relation to the tip of the glans of the penis.
Hydrocephalus
An increase in the amount of cerebrospinal fluid within the brain resulting in enlargement of
the cerebral ventricles and increased intracranial pressure.
Hypospadias
Displacement of the opening of the urethra ventrally and proximally (underneath and closer to
the body) in relation to the glans of the penis.
Limb Reductions
Complete or partial absence of upper and/or lower limbs.
Microcephaly
The cranial vault is smaller than normal for age.
Neural tube defects
• Anencephaly – partial or complete absence of the brain and skull.
• Spina Bifida – incomplete closure of the vertebral spine through which spinal cord
tissue and/or the membranes covering the spine (meninges) herniated.
• Encephalocele – herniation of brain tissue and/or meninges through a defect in the
skull.
Oesophageal Atresia/Stenosis
A condition in which the oesophagus ends in a blind pouch and fails to connect with the
stomach.
Obstructive genitourinary anomalies
Partial or complete obstruction of the flow of urine at any level of the genitourinary tract from
the kidneys to the urethra.
Complete absence or incomplete development of the kidney.
15
2014
4.2.2 Neural Tube Defects
There is no significant trend with neural tube defects overall or within the sub-groups
anencephaly, spina bifida and encephalocele after the initial drop in rates after 1997. This
decrease was likely due to the implementation of folic acid fortification in flour and cereals. It
appeared, as mentioned in the previous report, that the rates of spina bifida might be inching
upward from a low in 2002 but after the unexplained increase in 2006, the rates appear to be
returning to lower levels. ACASS will continue to monitor the trends to determine whether
there is a true or sustained change in any direction and whether any changes might simply be
a factor of normal fluctuations in rates or of ascertainment. It is normal to see fluctuations in
rates from year to year particularly with small numbers of births with NTDs. It is also important
to note that ACASS codes NTDs hierarchically. For example, an infant with both anencephaly
and spina bifida will be counted once as a case of anencephaly or if born with 2 spina bifida
lesions, the higher of the two will be counted. Also, ACASS is dependent upon cases being
reported to us so missing even a small number will affect rates considerably.
Figure 4.2.1 All Neural Tube Defects 1997– 2011 (Rate per 1000 total births)
1.40
1.20
1.00
0.80
0.60
0.40
0.20
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
NTDs w ToPs
Year
Linear (NTDs w ToPs)
Figure 4.2.2 Neural Tube Defects: Spina Bifida, Anencephaly and Encephalocele
1997–2011 (Rate per 1000 total births)
1.40
1.20
1.00
0.80
0.60
0.40
0.20
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Anencephaly
Spina Bifida
Encephalocele
16
2014
4.2.3 Microcephaly
Rates of microcephaly are increasing somewhat (p=0.040). Whether this is a true reflection of
increasing rates or better ascertainment is unknown at this time but ACASS will continue to
monitor.
Figure 4.2.3 Microcephaly
0.70
0.60
0.50
0.40
0.30
0.20
0.10
0.00
Year
Microcephaly
Linear (Microcephaly)
4.2.4 Hydrocepalus
Rates of hydrocephalus are also increasing somewhat (p=0.047). Again, this might be a factor
of increasing ascertainment over time rather than a true increase.
Figure 4.2.4 Hydrocephalus 1997–2011 (Rate per 1000 total births)
0.90
0.80
0.70
0.60
0.50
0.40
0.30
0.20
0.10
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Hydrocephaly w ToPs
17
2014
4.2.5 Anotia/Microtia
Anotia/Microtia rates have increased (p = 0.037). An investigation was done and no particular
pattern emerged. ACASS will continue to monitor the rates. The numbers are small so the
addition of even 1 case can affect rates dramatically.
Figure 4.2.5 Anotia/Microtia 1997–2011 (Rate per 1000 total births)
0.35
0.30
0.25
0.20
0.15
0.10
0.05
0.00
Year
Anotia Microtia
Linear (Anotia Microtia)
4.2.6 Cleft Lip and Palate
Rates for both cleft lip with or without cleft palate (CL ± CP) and cleft palate (CP) from 1980 to
2011 have remained remarkably stable (Figures 4.2.6 and 4.2.7). In 1997 fetal losses
including termination of pregnancy were added to the ascertainment process and in the
process of recoding ICD 9 to ICD 10 the caseload from 1997 on was reviewed with
subdivisions for isolated cases, those with multiple anomalies and those with syndromes and
chromosome etiologies. These graphs are shown in Figures 4.2.8 and 4.2.9. The overall
trend from 1997 to 2011 is seen in Figure 4.2.10 which demonstrates an upward, marginally
significant trend for CL ± CP and a significant downward trend for CP. Very few terminations
are done for clefting even those with multiple anomalies and their addition is not enough to
alter the trends in either CL ± CP or CP.
Current evidence does not suggest that folic acid fortification (FAF) has had any significant
impact on the birth prevalence of either CL ± CP or CP, although ACASS is currently
reviewing cases pre and post folic acid fortification to try to determine whether it has had any
effect on clefting rates in Alberta.
Correct periconceptional usage of multivitamin and folic acid or multivitamins and a high folate
diet may reduce the first occurrence of CL ± CP but not CP (Badovinac 20071, van Rooij
20042, Wilcox 20073) but other studies do not support these findings. In fact, Rozendaal et al
(2013)4 found an increased risk especially for cleft lip with periconceptional folic acid use. The
evidence had been summarized prior to this by Johnson & Little (2008)5 and Wehby & Murray
(2010)6. A high dose of folic acid (6 mg) and multivitamins was effective in reducing the first
occurrence of CL ± CP in Czeizel’s studies (1999)7 suggesting that the response was dose
18
2014
dependent. Tolarova & Harris (1995)8 reduced the recurrence risk of CL ± CP by using a
multivitamin which contained 10 mg of folic acid.
References
1
Badovinac RI, Werler MM, Williams PL, Kelsey KT, Hayes C. Folic Acid-Containing Supplement Consumption during
Pregnancy and Risk for Oral Clefts: A Meta-Analysis. Birth Defects Research A 2007:79, 8-15.
2
van Rooij IALM, Ocké MC, Straatmman H, Zielhuis GA, Merkus HMWM, Steegers-Theunissen RPM. Periconceptional
folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate. Prev Med
2004:39, 689-694.
3
Wilcox AJ, Lie RT, Solvell K, Taylor J, McConnaughey DR, Abyholm F, Vindenes H, Vollset SE, Drevon CA. Folic acid
supplements and risk of facial clefts: national population based case-control study. Brit Med J 2007:334, 464-469.
4
Rozendaal AM, van Essen AJ, te Meerman GJ, Bakker MK, van der Biezen JJ, Goorhuis-Brouwer SM, Vermeij-Keers
CV, de Walle HEK. Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related
malformations in the Northern Netherlands: a population based case-control study. Eur J Epidemiol 2013
doi 10.1007/s10654-013-9849-0
5
Johnson CY, Little J. Folate intake, markers of folate status and oral clefts: is the evidence converging? Int J Epidemiol
2008:37, 1041-1058.
6
Wehby GL, Murray JC. Folic acid and orofacial clefts: a review of the evidence. Oral Diseases 2010:16, 11-19.
7
Czeizel AE, Timár L, Sárközi A. Dose-dependent Effect of Folic Acid on the Prevention of Orofacial Clefts. Pediatrics
1999:104,e66.
8
Tolarova M, Harris J. Reduced Recurrence of Orofacial Clefts After Periconceptional Supplementation With High-Dose
Folic Acid and Multivitamins. Teratology 1995:51, 71-78.
Figure 4.2.6 Cleft Lip +/- Cleft Palate (CL+/-CP) 1980–2011 (Rate per 1000 total births)
1.80
1.60
1.40
1.20
1.00
0.80
0.60
0.40
0.20
0.00
Year
CL+/-CP, live births and stillbirths
CL+/-CP live births, stillbirths and fetal losses
Linear (CL+/-CP, live births and stillbirths)
19
2014
Figure 4.2.7 Cleft Palate Alone (CPO) 1980–2011 (Rate per 1000 total births)
1.40
1.20
1.00
0.80
0.60
0.40
0.20
0.00
Year
CPO live births and stillbirths
Linear (CPO live births and stillbirths)
CPO Live births, stillbirths and fetal losses
The following graphs (Figures 4.2.8 and 4.2.9) illustrate the rates of cleft lip +/- cleft palate
and cleft palate alone indicating the proportions that were isolated or multiple cases. The
isolated and multiple categories are mutually exclusive. “Isolated” is defined as having a cleft
with no other anomalies whereas “multiple” is defined as having a cleft with any other
anomalies reported.
Note: “Syndrome (including chromosome)” is a subset of the “multiple” category and indicates
a known or presumed etiology for the clefting whether it be a recognized syndrome, sequence
or chromosome abnormality.
Figure 4.2.8 Cleft Lip +/- Cleft Palate in Total Births, Alberta 1997–2011
Total, Isolated, Multiple and Syndromes* (Rate per 1000 total births)
1.80
1.60
1.40
1.20
1.00
0.80
0.60
0.40
0.20
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Total
Isolated
Multiple
Synd (Inc Chrom)
*includes recognized syndromes as well as chromosome abnormalities
20
2014
Figure 4.2.9 Cleft Palate Alone in Total Births, Alberta 1997–2011
Total, Isolated, Multiple and Syndromes* (Rate per 1000 total births)
1.20
1.00
0.80
0.60
0.40
0.20
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Total
Isolated
Multiple
Syndrome (Includes Chromosome)
*includes recognized syndromes as well as chromosome abnormalities
Figure 4.2.10 Cleft Lip +/- Cleft Palate (CL+/-CP) and Cleft Palate (CP) Alone
1.80
1.60
1.40
1.20
1.00
0.80
0.60
0.40
0.20
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Cleft palate alone
Linear (Cleft palate alone)
Cleft Lip +/- Cleft Palate
Linear (Cleft Lip +/- Cleft Palate)
21
2014
4.2.7 Obstructive Genitourinary
Obstructive GU anomalies are increasing (p<0.001). Vesicoureteric junction (VUJ) obstruction
and hydronephrosis seem to be the main drivers of this increase.
Figure 4.2.11 Obstructive Genitourinary tract anomalies in Total Births, Alberta 1997–
2011 (Rate per 1000 total births)
3.50
3.00
2.50
2.00
1.50
1.00
0.50
0.00
year
Obstructive GU
Linear (Obstructive GU)
4.2.8 Renal Agenesis/Hypoplasia
While there appears to be a slight increase in rates of renal agenesis/hypoplasia, it is not a
statistically significant trend (p=0.13). This apparent increase is likely due to better
ascertainment as a result of more ultrasound investigations in early infancy, many of which
are followed-up from suspicious prenatal ultrasounds (Figure 4.2.12).
Figure 4.2.12 Renal Agenesis/Hypoplasia 1997–2011 (Rate per 1000 total births)
1.00
0.80
0.60
0.40
0.20
0.00
Year
Renal agenesis-hypoplasia
22
2014
4.2.9 Abdominal Wall Defects
Abdominal wall defects include mainly gastroschisis and omphalocele (Figure 4.2.13).
Gastroschisis rates continue to increase in keeping with many other jurisdictions world-wide.
The increase seems to be most obvious in younger mothers, particularly under 20 years of
age, and to a lesser extent in the 20–24 year age group (Figure 4.2.14). Omphalocele rates
are rising significantly but this increase is driven mainly by births to older mothers. Due to the
fact that omphalocele is more associated with chromosome abnormalities than is
gastroschisis, the prevalence in the older mothers might, to some degree, explain the
increased rate particularly in mothers 40 years of age and older (Figure 4.2.15).
Figure 4.2.13 Abdominal Wall Defects – Gastroschisis and Omphalocele in Total Births
(Live + Still + ToP), Alberta, 1997–2011 (Rate per 1000 total births)
0.70
0.60
0.50
0.40
0.30
0.20
0.10
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Gastroschisis
Omphalocele
Linear (Gastroschisis)
Linear (Omphalocele)
Figure 4.2.14 Gastroschisis by Maternal Age Groups in 5 Year Increments
4.00
3.50
3.00
2.50
2.00
1.50
1.00
0.50
0.00
1997-2001
<20
2002-2006
20-24
25-29
2007-2011
30-34
35-39
>=40
23
2014
Figure 4.2.15 Omphalocele by Maternal Age Groups in 5 Year Increments
2.50
2.00
1.50
1.00
0.50
0.00
1997-2001
<20
2002-2006
20-24
25-29
2007-2011
30-34
35-39
>=40
24
2014
4.2.10 Chromosome Anomalies
Down Syndrome (Trisomy 21) is by far the most commonly ascertained chromosome
anomaly. As previously reported, rates of Down Syndrome are increasing significantly (Table
4.1.1 p.13; Figure 4.2.17) but are strongly correlated with increasing maternal age (Table
4.2.1 p. 27).
In 1983, approximately four per cent of mothers were 35 years of age or over whereas in
2011, approximately17 per cent of mothers were in the same age category (Figure 4.2.16).
Births to women over 40 years of age have increased 5 times since 1983 while births to
women 20-29 have steadily decreased over the same time period.
Rates of Trisomy 13 and Trisomy 18 have also risen significantly but the numbers of births are
far fewer than infants born with Trisomy 21. Again, the increases are likely due to advanced
maternal age at birth.
Figure 4.2.16 Maternal Age at birth as a percent of total births,
Alberta, 1983–2011
45
40
25-29
35
Percent
30
30-34
25
20
20-24
15
35-39
10
<20
5
≥40
0
Year
Figure 4.2.17 Chromosome Anomalies: Trisomy 13, Trisomy 18, Trisomy 21,
3.00
2.50
2.00
1.50
1.00
0.50
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Trisomy 13
Trisomy 18
Trisomy 21
25
Table 4.2.1
2014
Down Syndrome by Maternal Age, 2007-2011
Rates per 1000 Total Births (Live + Still + ToP)
Year
Maternal
Age
2007
2008
2009
2010
2011
<20
0.80
0.41
0.84
1.39
0
20–24
0.77
0.66
0.79
0.84
1.02
25–29
1.03
0.86
1.02
1.17
0.99
30–34
1.93
1.15
2.10
2.29
1.62
35–39
6.29
4.80
4.26
4.67
5.66
≥40
21.49
21.57
15.50
19.38
19.13
All ages
2.42
1.92
2.10
2.47
2.35
ACASS data were included in an ICBDSR study of ascertainment of Down Syndrome which
showed that we compared favourably to many other surveillance systems (Leoncini et al,
20101).
Infants with Down Syndrome often have associated anomalies. ACASS does not code minor
anomalies associated with Down syndrome such as single palmar crease, upslanting
palpebral fissures, and increased space between the first and second toes, however, other
major malformations, are entered routinely into the database as most live born infants with
Trisomy 21 survive and require ongoing health care services. Major malformations are
entered into the database for Trisomies 13 and 18 as well. Although mortality is high among
infants born with Trisomies 13 and 18, some infants survive to require medical care and
treatment thus counting the anomalies associated with these diagnoses can help with future
health care planning.
Reference
1
Leoncini E & 34 others including Lowry RB. 2010. How valid are the rates of Down sundrome internationally? Findings
from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet Part A 152A:1670–
1680.
26
2014
4.2.11 Limb Reductions
Birth prevalence rates for limb reductions have remained stable from 1997–2011 (Figure
4.2.18) with no significant trend evident. ACASS continues to participate in an international
study, co-ordinated through the ICBDSR, on the epidemiology of very rare defects. Some of
the more uncommon limb reduction defects such as true phocomelia (absence of all limb
bones proximal to the hand or foot - the hand or foot attaching directly to the trunk) and amelia
(complete absence of one or more limbs) are included in that study.
It appears our rates are somewhat higher than those of several countries that report to the
ICBDSR (Table 4.1.2, p. 14). A review of all cases in the database will be undertaken to try to
determine whether the rates are true or whether there are coding, classification or reporting
issues that might account for the difference.
Figure 4.2.18 Limb Reduction Defects
2.00
1.50
1.00
0.50
0.00
Year
Limb reductions - all
4.2.12 Anorectal Atresia/Stenosis
Anorectal malformation rates have continued to decrease since 1997 (Figure 4.2.19). The
rates, which appeared to increase in 1998–1999 in both Alberta and Canadian National data,
prompted a detailed survey of Alberta data. The results were subsequently published (Lowry
et al, 20071) and at that time showed no overall trend. The results indicated that a substantial
number of cases belonged in the multiple congenital anomaly VATER/VACTERL. Currently,
there is no known reason for the decline.
Our prevalence rates are very comparable to two other large population studies, one from
British Columbia and the other from the EUROCAT registries with frequencies in the 1/2200 –
1/2500 ranges (Spouge et al, 1986 2; Cuschieri, 2001 3; Cuschieri, 2002 4).
27
2014
Figure 4.2.19 Anorectal and Large Intestine Atresia/Stenosis
0.90
0.80
0.70
0.60
0.50
0.40
0.30
0.20
0.10
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
AnoRectal & Lge Intest Atresia-Stenosis
References
1
Lowry RB, Sibbald B, Bedard T. 2007. Stability of prevalence rates of anorectal malformations in the Alberta Congenital
Anomalies Surveillance System 1990–2004. J Peds Surg 42:1417–1421.
2
Spouge D, Baird PA, Opitz JM and Reynolds J F. 1986. Imperforate anus in 700,000 consecutive liveborn infants.
AJMG 25: 151–161.
3
Cuschieri A. 2001. Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe. AJMG
103: 207–215.
4
Cuschieri A. 2002. Anorectal anomalies associated with or as part of other anomalies.
AJMG 110:122–130.
4.2.13 Congenital Heart Disease (CHD)
Tetralogy of Fallot (Figure 4.2.20) appears to be showing an increase over time although the
increase is not statistically significant (p= 0.31) whereas it appears that Hypoplastic Left Heart
Syndrome (Figure 4.2.21) has remained stable between the years 1997–2011. There is a
slight upward trend for ventricular septal defects however atrial septal defects are declining.
ACASS recently published a study of CHDs (Lowry et al, 2013)1, the primary purpose being to
determine the proportion of non-cardiac anomalies among CHD cases in Alberta in order to
enhance classification for future studies that might try to determine the etiology of CHDs. Most
CHDs in Alberta are isolated (no non cardiac anomalies detected) (75%) and approximately
9% have chromosome anomalies. The remainder had non cardiac anomalies, some
syndromic and some with no known etiology.
Another study of CHDs was also published in 2013 (Bedard et al, 2013)2 comparing the years
pre folic acid fortification (FAF) (1995-1997) with the years post FAF (1999-2002) to try to
determine whether FAF has affected CHD prevalence rates in Alberta. It found that FAF did
not have an impact on CHDs as a whole however there was a decline in the rates of isolated
left ventricular outflow tract obstructions, particularly coarctation of the aorta and an increase
28
2014
in isolated atrial septal defect rates. ASD rates have since been declining in the years
following the post FAF study period (Figure 4.2.22).
Figure 4.2.20 Tetralogy of Fallot 1997–2011 (Rate per 1000 total births)
0.50
0.40
0.30
0.20
0.10
0.00
Year
ToF
Linear (ToF)
Figure 4.2.21 Hypoplastic Left Heart Syndrome 1997– 2011 (Rate per 1000 total births)
0.50
0.40
0.30
0.20
0.10
0.00
Yaer
HLHS
Linear (HLHS)
29
2014
Figure 4.2.22 Atrial Septal Defect 1997– 2011 (Rate per 1000 total births)
3.00
2.50
2.00
1.50
1.00
0.50
0.00
year
ASD
Linear (ASD)
References
1
Lowry RB, Bedard T, Sibbald B, Harder JR, Trevenen C, Horobec V, Dyck J. 2013. Congenital heart defects and major
structural noncardiac anomalies in Alberta, Canada, 1995-2002. Birth Defects Research Part A, 97:79-86
2
Bedard T, Lowry RB, Sibbald B, Harder JR, Trevenen C, Horobec V, Dyck J. 2013. Folic acid fortification and the birth
prevalence of congenital heart defects cases in Alberta, Canada. Birth Defects Research Part A, 97:564-570
4.2.14 Oesophageal Atresia/Stenosis
There has been no significant change in the rates of oesophageal atresia and stenosis with or
without a tracheo-oesophageal fistula since 1997.
Figure 4.2.23 Oesophageal Atresia/Stenosis 1997–2011 (Rate per 1000 total births)
0.50
0.40
0.30
0.20
0.10
0.00
Year
TEF
Linear (TEF)
30
2014
4.2.15 Hypospadias and Epispadias
Ascertainment of hypospadias includes all degrees of severity but excludes congenital chordee
without hypospadias. Epispadias has now been separated from hypospadias for this report. In the
past, because both had the same three digit code in ICD-9 and conformed to NBDPN reporting, they
were grouped together. ICD-10 has a separate code for epispadias (Q64.0) whereas different
degrees of hypospadias are under Q54 and because they are different entities, we thought it better to
report each separately.
It should be noted that our rates are expressed as total male births in contrast to many rates in the
literature which are cited as live births and do not differentiate the male proportion.
Clearly even a modest increasing trend deserves further study particularly because of the concern in
the 1970’s and 80’s that hypospadias was increasing. Various causes were attributed to that including
endocrine disruption factors such as pesticides, herbicides, phthalates, vegetarian diets
(phytoestrogens) as well as the breakdown of plastic components (Baskin et al, 20011). Thus there is
concern for agricultural workers. The concerns about increasing rates of hypospadias seem to have
abated (Fisch et al, 20092) but certainly surveillance of more years is necessary before we can
conclude that the current increase is sustained.
Dolk et al (2004 3) have discussed some of the problems of effective surveillance for this anomaly and
listed a number of recommendations to improve surveillance reliability. A study in Finland (Aho et al
2000 4) found that the prevalence there remained constant for the 1970–1986 period though higher
than previously reported which was likely due to the incomplete ascertainment. It is of interest that our
current 10-year prevalence rate of 4.27 per 1000 total male births is very comparable to that of a
study in British Columbia (Leung et al, 1985 5) where the prevalence was 4.44/1000 male live births
for the 1966–81 period. A recent study showed no association has been found between maternal prepregnancy obesity and the risk of hypospadias (Adams et al 20116).
The numbers for epispadias are small so ascertaining one or 2 cases more per year can substantially
alter rates. Again, the trend will be monitored.
Figure 4.2.24 Hypospadias 1997–2011 (Rate per 1000 total births)
6.00
5.00
4.00
3.00
2.00
1.00
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Hypospadias
Linear (Hypospadias)
.
31
2014
Figure 4.2.25 Epispadias 1997–2011 (Rate per 1000 total births)
0.25
0.20
0.15
0.10
0.05
0.00
1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011
Year
Epispadias
Linear (Epispadias)
References
1
Baskin LS, Himes K, Colborn T. 2001. Hypospadias and endocrine disruption: Is there a connection? Environ Health
Perspect 109:1175–1183
2
Fisch H, Lambert SM, Hensle TW, Hyun G. 2009. Hypospadias rates in New York State are not increasing. J Urol
181:2291–2294.
3
Dolk H, Vrijheid M, Scott JE, Addor M-C, Botting B, de Vigan C, et al. 2004. Toward the effective surveillance of
hypospadias. Environ Health Perspect 112:398–402.
4
Aho M, Koivisto A-M, Tammela TL, Auvinen A. 2000. Is the incidence of hypospadias increasing? Analysis of Finnish
hospital discharge data 1970–1994. Environ Health Perspect 108:463–465.
5
Leung TJ, Baird PA, and McGillivray B. 1985. Hypospadias in British Columbia. American Journal of Medical Genetics,
21: 39–48.
6
Adams SV, Hastert TA, Huang Y and Starr JR. 2011. No association between maternal pre-pregnancy obesity and risk
of hypospadias or cryptorchidism in male newborns. Birth Defects Research Part A: Clinical and Molecular Teratology,
91: 241–248.
4.3 Summary
ACASS reviews anomalies that have been entered into the database on a regular basis.
Detailed studies of some individual anomalies or anomaly groups aid in the assessment and
maintenance of the data quality. With intensive review, some cases might be reassigned,
recoded or discarded altogether from the database. This continuing review might explain
some discrepancies in the data from earlier reports.
32
2014
5. SURVEILLANCE AND RESEARCH PROJECTS
5.1 Surveillance and Research Projects/Collaborations and Consultations/Papers
1. Wang FL, Gabos S, Sibbald B, Lowry RB Completeness and accuracy of the birth registry
data on congenital anomalies in Alberta, Canada Chronic Diseases in Canada 2001;
22(2): 57–66
2. Banhidy F, Lowry RB, Czeizel AE. Risk and benefit of drug use during pregnancy. Int J
Med Sci 2:100–106, 2005
3. Lowry RB. Maternal Ethnicity and risk of Neural Tube Defects. CMAJ 172: 159–160, 2005.
4. Lowry RB, Kohut R, Sibbald B & Rouleau J. Anophthalmia and microphthalmia in the
Alberta Congenital Anomalies Surveillance System. Can J Ophthalmol 40:38–44, 2005.
5. Lowry RB, Sibbald B, Bamforth JS Re: An epidemiologic analysis of CHARGE Syndrome:
preliminary results from a Canadian study (letter). Am J Med Gen 139A: 169, 2005.
6. Botto LD & 18 others include Lowry RB. Trends of Selected Malformations in Relation to
Folic Acid Recommendations and Fortification: An International Assessment. Birth Defects
Research (Part A) 76: 693–705, 2006
7. Mastroiacovo P et al. The Incidence of Gastroschisis ; Research Urgently Needs
Resources. BMJ 332 : 423–424, 2006.
8. Paquette D, Lowry RB and Sauvé R. Two to three percent of infants are born with a
congenital anomaly, but who’s counting? A national survey of congenital anomalies
surveillance in Canada. Chronic Dis Can 27: 36–38, 2006.
9. De Wals P, Tairou F, Van Allen MI, Uh SH, Lowry RB, Sibbald B, Evans J, Van den Hof
MC, Zimmer P, Crowley M, Fernandez B, Lee NS, Niyonsenga T. Impact of folic acid food
fortification on the prevalence of neural tube defects in Canada. New Eng J Med.
357:143–153, 2007.
10. Lowry RB. The fetal alert network. J Obstet Gynaecol Can 29: 307, 2007
11. Lowry RB. Prevalence of anorectal malformations. Orphanet Journal of Rare Diseases 2:
33doi:1186/1750–1172–2–33, 2007.
12. Lowry RB, Sibbald B. The Fetal Alert Network: surveying congenital anomalies. Paediatr
Child health 12:713, 2007.
13. Lowry RB, Sibbald B and Bedard T. Stability of prevalence rates of anorectal
malformations in the Alberta Congenital Anomalies Surveillance System 1990–2004. J
Pediatr Surg 42:1417–1421, 2007.
14. Mastroiacovo P and 27 others including Lowry RB. Gastroschisis and Associated Defects:
An International Study. Am J Med Genet 143A: 660–671, 2007
15. De Wals P, Van Allen MI, Lowry RB, Evans JA, Van den Hof MC, Crowley M, Tairou F, Uh
SH, Sibbald B, Zimmer P, Fernandez B, Lee NS, Niyonsenga T. Impact of folic acid food
fortification on the birth prevalence of lipomyelomeningocele in Canada. Birth defects
research (Part A) 82: 106–109, 2008.
16. Godwin KA, Kuzeljevic MA, Sibbald B, Lowry RB, Bedard T, Arbour L. Changes in
Frequencies of Select Congenital Anomalies since the Onset of Folic Acid Fortification in a
Canadian Birth Defect registry. Can J Publ Health 99 : 271–275, 2008.
33
2014
17. Leoncini E & 28 others include Lowry RB. Frequency of Holoprosencephaly in the
International Clearinghouse Birth Defects Surveillance Systems: Searching for Population
Variations. Birth Defects Research (Part A) 82 : 585–591, 2008.
18. Lowry RB. Congenital Anomalies Surveillance in Canada. Can J Publ Health 99 : 483–
485, 2008.
19. Leoncini E & 34 others include Lowry RB. How valid are the rates of Down Syndrome
Internationally? Findings from the International Clearinghouse for Birth Defects
Surveillance and Research. Am J Med Genet Part A 152A:1670–1680.
20. Lowry RB. Congenital Anomalies – why bother ? Med J Australia 193: 428, 2010
21. Lowry RB, Sibbald B, Bedard T and Hall JG. Prevalence of multiple congenital
contractures including Arthrogryposis Multiplex Congenita in Alberta, Canada, and a
strategy for classification and coding. Birth Defects research (PartA) 88: 1057–1061, 2010.
22. Bedard T, Lowry RB, Sibbald B. ICD-10 coding for congenital anomalies: a Canadian
experience. Journal of registry Management 39(1):4-7, 2012
23. Bedard T, Lowry RB, Sibbald B, Harder JR, Trevenen C, Horobec V, Dyck J. Congenital
heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance
System. Birth Defects Research (PartA) 94:449-458, 2012
24. Bedard T, Lowry RB, Sibbald B, Harder JR, Trevenen C, Horobec V, Dyck J. Folic acid
fortification and the birth prevalence of congenital heart defects cases in Alberta, Canada.
Birth Defects Research Part A, 97:564-570, 2013
25. Lowry RB, Bedard T, Sibbald B, Harder JR, Trevenen C, Horobec V, Dyck J. Congenital
heart defects and major structural noncardiac anomalies in Alberta, Canada, 1995-2002.
Birth Defects Research Part A, 97:79-86, 2013
26. Lowry RB, Bedard T. Birth defects registries: the vagaries of management – the British
Columbia and Alberta case histories. Journal of Registry Management 40(2):98-103, 2013
27. Lowry RB, Sibbald B, Sarnat HB. Comment to the paper: Multiple neural tube defects may
not be very rare by S.K. Mahalik et al. Childs Nervous System 29:881-882, 2013
Articles for Canadian Congenital Anomalies Surveillance System Current Contents
(http://www.phac-aspc.gc.ca/ccasn-rcsac/index.html):
i. Sibbald B and Lowry RB Orofacial clefts in Alberta 1980–2004 inclusive (winter 2005)
http://www.phac-aspc.gc.ca/ccasn-rcsac/ct2005/or-cl-alberta_e.html
ii. Sibbald B and Lowry RB Abdominal wall defects- Alberta 1980–2002 (winter 2004)
http://www.phac-aspc.gc.ca/ccasn-rcsac/ct2004/awd-alb.html
iii. Sibbald B and Lowry RB Down Syndrome in Alberta: Alberta Congenital Anomalies
Surveillance System (fall 2003)
http://www.phac-aspc.gc.ca/ccasn-rcsac/ct2003/abds_e.html
34
2014
6. Appendices
Appendix A.1 Flowchart of the Process of ACASS Data Collection
Appendix A.2 Congenital Anomaly(ies) Reporting Form (CARF)
Appendix A.3 Single and Aggregate Year Anomaly rates
Appendix A.4 Numbers of cases, anomalies and anomalies per case 1980–2011
Appendix A.5 Chi Trend table for reported anomalies 1997-2011
35
2014
Appendix A.1 Flowchart of the Process of ACASS Data Collection
Alberta Vital
Statistics & AHW
Documents e.g.
• NOB
• Death Reg.
• Stillbirth Reg.
Physicians
Nurses
Allied Health
CARF
Hospitals
Health Records
Nursing Units
Clinics
Labs
Screen NOB for congenital
anomalies
Check CARFs vs. birth
records
Alberta Health,
Surveillance and
Assessment
Branch
(Edmonton)
Medical Consultant
Manager
Research Assistant
ACASS
(Calgary)
Query
Reject
Accept
Letter(s)
Reject
Code
Enter into database
Alberta Health, Surveillance &
Assessment Branch
(Edmonton)
CCASS Ottawa
36
2014
Appendix A.2 Congenital Anomaly(ies) Reporting Form (CARF)
37
Appendix A.3
2014
Alberta Congenital Anomalies Surveillance System Anomaly Rates
Q Chapter (Q00-Q99)
Single Year Anomaly Rates per 1,000 Total Births
Total Births (Live, still and fetal losses)
Diagnostic Category
and
ICD-9/BPA Code
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
NUMBER
RATE
7
0.18
12
0.30
10
0.25
9
0.21
9
0.20
9
0.18
10
0.20
18
0.35
9
0.18
16
0.32
Lower CI
Upper CI
0.07
0.15
0.12
0.10
0.09
0.08
0.10
0.21
0.08
0.18
ICD-10 Q00.00, Q00.01, Q00.1
0.37
0.52
0.45
0.41
0.38
0.35
0.36
0.55
0.34
0.51
Spina Bifida without
Anencephaly
NUMBER
RATE
7
0.18
14
0.35
16
0.39
12
0.29
26
0.58
20
0.41
19
0.38
22
0.43
24
0.47
20
0.39
Lower CI
Upper CI
0.07
0.19
0.23
0.15
0.38
0.25
0.23
0.27
0.30
0.24
ICD-10 Q05..
0.37
0.58
0.64
0.50
0.85
0.63
0.59
0.65
0.71
0.61
NUMBER
RATE
7
0.18
6
0.15
3
0.07
9
0.21
2
0.04
6
0.12
7
0.14
7
0.14
8
0.16
5
0.10
Lower CI
Upper CI
0.07
0.05
0.01
0.10
0.01
0.05
0.06
0.05
0.07
0.03
0.37
0.32
0.21
0.41
0.15
0.26
0.28
0.28
0.31
0.23
NUMBER
RATE
21
0.54
32
0.80
29
0.71
30
0.72
37
0.82
36
0.74
36
0.71
47
0.91
41
0.81
41
0.81
Lower CI
Upper CI
0.34
0.55
0.48
0.48
0.58
0.52
0.50
0.67
0.58
0.58
ICD-10 Q00.., Q01.., Q05..
0.83
1.13
1.03
1.02
1.13
1.02
0.99
1.22
1.10
1.10
Hydrocephalus without Spina
Bifida
NUMBER
RATE
21
0.54
22
0.55
21
0.52
23
0.55
38
0.85
30
0.62
32
0.63
29
0.56
29
0.57
39
0.77
(Excludes hydranencephaly)
ICD-10 Q03
Lower CI
Upper CI
0.34
0.34
0.32
0.35
0.60
0.42
0.43
0.38
0.38
0.55
0.83
0.83
0.79
0.82
1.16
0.88
0.89
0.81
0.82
1.05
Arrhinencephaly/
Holoprosencephaly
NUMBER
RATE
10
0.26
11
0.27
7
0.17
7
0.17
7
0.16
13
0.27
14
0.28
15
0.29
9
0.18
11
0.22
Lower CI
Upper CI
0.12
0.14
0.07
0.07
0.06
0.14
0.15
0.16
0.08
0.11
ICD-10 Q04.1, Q04.2, Q87.03
0.47
0.49
0.35
0.34
0.32
0.46
0.46
0.48
0.34
0.39
NUMBER
RATE
9
0.23
21
0.52
13
0.32
24
0.57
16
0.36
18
0.37
20
0.40
23
0.45
22
0.43
31
0.61
Lower CI
Upper CI
0.11
0.32
0.17
0.37
0.20
0.22
0.24
0.28
0.27
0.42
0.44
0.80
0.55
0.85
0.58
0.58
0.61
0.67
0.66
0.87
NUMBER
RATE
2
0.05
2
0.05
8
0.20
14
0.33
5
0.11
7
0.14
10
0.20
4
0.08
6
0.12
8
0.16
Lower CI
Upper CI
0.01
0.01
0.09
0.18
0.04
0.06
0.10
0.02
0.04
0.07
0.18
0.17
0.39
0.56
0.26
0.29
0.36
0.19
0.26
0.31
NUMBER
RATE
2
0.05
4
0.10
4
0.10
5
0.12
4
0.09
9
0.18
4
0.08
11
0.21
13
0.26
7
0.14
Lower CI
Upper CI
0.01
0.03
0.03
0.04
0.02
0.08
0.02
0.11
0.14
0.06
0.18
0.25
0.25
0.27
0.22
0.35
0.20
0.38
0.44
0.28
Anencephaly
Encephalocele
ICD-10 Q01..
Neural Tube Defects (all)
Microcephaly
ICD-10 Q02
Anophthalmia/microphthalmia
ICD-10 Q11.0, Q11.1, Q11.2
Congenital cataract
ICD-10 Q12.0
38
Appendix A.3
2014
Q Chapter (Q00-Q99)
Aggregate Year Anomaly Rates per 1,000 Total Births
Diagnostic Category
and
ICD-9/BPA Code
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
97-06
(10 years)
02-11
(10 years)
97-11
(15 years)
NUMBER
RATE
56
0.30
47
0.23
62
0.25
103
0.26
109
0.24
165
0.26
ICD-10 Q00.00, Q00.01, Q00.1
Lower CI
Upper CI
0.23
0.39
0.17
0.30
0.19
0.32
0.21
0.32
0.20
0.29
0.22
0.30
Spina Bifida without
Anencephaly
NUMBER
RATE
72
0.39
75
0.36
105
0.42
147
0.37
180
0.39
252
0.39
ICD-10 Q05..
Lower CI
Upper CI
0.30
0.48
0.29
0.46
0.34
0.50
0.32
0.44
0.34
0.45
0.34
0.44
NUMBER
RATE
25
0.13
27
0.13
33
0.13
52
0.13
60
0.13
85
0.13
Lower CI
Upper CI
0.09
0.20
0.09
0.19
0.09
0.18
0.10
0.17
0.10
0.17
0.11
0.16
NUMBER
RATE
155
0.83
149
0.72
201
0.80
304
0.77
350
0.76
505
0.78
ICD-10 Q00.., Q01.., Q05..
Lower CI
Upper CI
0.70
0.97
0.61
0.85
0.69
0.92
0.69
0.87
0.69
0.85
0.72
0.85
Hydrocephalus without Spina
Bifida
NUMBER
RATE
97
0.52
125
0.61
159
0.63
222
0.56
284
0.62
381
0.59
(Excludes hydranencephaly)
ICD-10 Q03
Lower CI
Upper CI
0.42
0.63
0.51
0.72
0.54
0.74
0.49
0.64
0.55
0.70
0.53
0.65
Arrhinencephaly/
Holoprosencephaly
NUMBER
RATE
30
0.16
42
0.20
62
0.25
72
0.18
104
0.23
134
0.21
ICD-10 Q04.1, Q04.2, Q87.03
Lower CI
Upper CI
0.11
0.23
0.15
0.28
0.19
0.32
0.14
0.23
0.19
0.28
0.17
0.25
NUMBER
RATE
69
0.37
83
0.40
114
0.45
152
0.39
197
0.43
266
0.41
Lower CI
Upper CI
0.29
0.47
0.32
0.50
0.37
0.54
0.33
0.45
0.37
0.49
0.36
0.47
NUMBER
RATE
43
0.23
31
0.15
35
0.14
74
0.19
66
0.14
109
0.17
Lower CI
Upper CI
0.17
0.31
0.10
0.21
0.10
0.19
0.15
0.24
0.11
0.18
0.14
0.20
NUMBER
RATE
27
0.14
19
0.09
44
0.17
46
0.12
63
0.14
90
0.14
Lower CI
Upper CI
0.10
0.21
0.06
0.14
0.13
0.23
0.09
0.16
0.11
0.18
0.11
0.17
Anencephaly
Encephalocele
ICD-10 Q01..
Neural Tube Defects (all)
Microcephaly
ICD-10 Q02
Anophthalmia/microphthalmia
ICD-10 Q11.0, Q11.1, Q11.2
Congenital cataract
ICD-10 Q12.0
39
Appendix A.3
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
Anotia/microtia
ICD-10 Q16.0, Q17.2
Congenital Heart Defects (all)
2014
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
NUMBER
RATE
6
0.16
8
0.20
13
0.32
12
0.29
8
0.18
13
0.27
11
0.22
16
0.31
14
0.28
11
0.22
Lower CI
Upper CI
0.06
0.09
0.17
0.15
0.08
0.14
0.11
0.18
0.15
0.11
0.33
0.39
0.55
0.50
0.35
0.46
0.39
0.50
0.46
0.39
592
15.36
435
10.84
529
13.04
514
12.27
421
9.37
540
11.09
529
10.47
587
11.42
657
12.99
643
12.69
NUMBER
RATE
Lower CI
Upper CI
14.15
9.85
11.95
11.23
8.49
10.17
9.60
10.51
12.01
11.73
16.65
11.91
14.20
13.38
10.30
12.06
11.40
12.38
14.02
13.71
Excludes AP window
NUMBER
RATE
3
0.08
4
0.10
3
0.07
2
0.05
2
0.04
5
0.10
3
0.06
2
0.04
4
0.08
2
0.04
Lower CI
Upper CI
0.02
0.03
0.01
0.01
0.01
0.03
0.01
0.00
0.02
0.00
ICD-10 Q20.0
0.22
0.25
0.21
0.16
0.15
0.24
0.17
0.13
0.20
0.14
Transposition of Great
Arteries
NUMBER
RATE
18
0.47
17
0.42
18
0.44
20
0.48
15
0.33
13
0.27
14
0.28
13
0.25
13
0.26
20
0.39
Lower CI
Upper CI
0.28
0.25
0.26
0.29
0.19
0.14
0.15
0.13
0.14
0.24
ICD-10 Q20.11, Q20.3, Q20.5
0.74
0.68
0.70
0.74
0.55
0.46
0.46
0.43
0.44
0.61
Tetralogy of Fallot
NUMBER
13
11
12
17
18
21
17
16
15
19
RATE
0.34
0.27
0.30
0.41
0.40
0.43
0.34
0.31
0.30
0.38
Lower CI
Upper CI
0.18
0.14
0.15
0.24
0.24
0.27
0.20
0.18
0.17
0.23
0.58
0.49
0.51
0.65
0.63
0.66
0.54
0.50
0.49
0.59
NUMBER
RATE
143
3.71
111
2.77
157
3.87
148
3.53
121
2.69
139
2.85
143
2.83
158
3.07
169
3.34
167
3.30
Lower CI
Upper CI
3.13
2.28
3.29
2.99
2.23
2.40
2.39
2.61
2.86
2.82
4.37
3.33
4.52
4.15
3.22
3.37
3.33
3.59
3.88
3.84
NUMBER
RATE
106
2.75
78
1.94
94
2.32
87
2.08
61
1.36
74
1.52
74
1.46
96
1.87
110
2.17
98
1.93
Lower CI
Upper CI
2.25
1.54
1.87
1.66
1.04
1.19
1.15
1.51
1.79
1.57
3.33
2.43
2.83
2.56
1.74
1.91
1.84
2.28
2.62
2.36
NUMBER
RATE
12
0.31
19
0.47
27
0.67
15
0.36
13
0.29
26
0.53
25
0.49
20
0.39
32
0.63
26
0.51
Lower CI
Upper CI
0.16
0.29
0.44
0.20
0.15
0.35
0.32
0.24
0.43
0.34
ICD-10 Q21.2..
0.54
0.74
0.97
0.59
0.49
0.78
0.73
0.60
0.89
0.75
Pulmonary Valve Atresia and
Stenosis
NUMBER
RATE
26
0.67
22
0.55
19
0.47
27
0.64
20
0.44
33
0.68
24
0.48
29
0.56
35
0.69
28
0.55
Lower CI
Upper CI
0.44
0.34
0.28
0.43
0.27
0.47
0.30
0.38
0.48
0.37
ICD-10 Q22.0, Q22.1
0.99
0.83
0.73
0.94
0.69
0.95
0.71
0.81
0.96
0.80
ICD-10 Q20.. to Q26..
Common Truncus
(Includes Tetralogy with ASD aka
Pentalogy
of Fallot)
ICD-10 Q21.3.., Q21.82
Ventricular Septal Defect
ICD-10 Q21.0
Atrial Septal Defect
ICD-10 Q21.1..
Endocardial Cushion Defect
40
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
02-11
(10 years)
97-11
(15 years)
NUMBER
RATE
31
0.17
47
0.23
65
0.26
78
0.20
112
0.24
143
0.22
Lower CI
Upper CI
0.11
0.24
0.17
0.30
0.20
0.33
0.16
0.25
0.20
0.29
0.19
0.26
NUMBER
RATE
2282
12.21
2491
12.09
2956
11.74
4773
12.15
5447
11.89
7729
11.99
Lower CI
Upper CI
11.72
12.72
11.62
12.57
11.32
12.17
11.80
12.50
11.58
12.21
11.72
12.26
Excludes AP window
NUMBER
RATE
10
0.05
14
0.07
16
0.06
24
0.06
30
0.07
40
0.06
ICD-10 Q20.0
Lower CI
Upper CI
0.03
0.10
0.04
0.11
0.04
0.10
0.04
0.09
0.04
0.09
0.04
0.08
Transposition of Great
Arteries
NUMBER
RATE
64
0.34
88
0.43
73
0.29
152
0.39
161
0.35
225
0.35
ICD-10 Q20.11, Q20.3, Q20.5
Lower CI
Upper CI
0.26
0.44
0.34
0.53
0.23
0.36
0.33
0.45
0.30
0.41
0.30
0.40
NUMBER
RATE
48
0.26
71
0.34
88
0.35
119
0.30
159
0.35
207
0.32
Lower CI
Upper CI
0.19
0.34
0.27
0.43
0.28
0.43
0.25
0.36
0.30
0.41
0.28
0.37
NUMBER
RATE
509
2.72
680
3.30
776
3.08
1189
3.03
1456
3.18
1965
3.05
Lower CI
Upper CI
2.49
2.97
3.06
3.56
2.87
3.31
2.86
3.20
3.02
3.35
2.91
3.19
NUMBER
RATE
390
2.09
426
2.07
452
1.79
816
2.08
878
1.92
1268
1.97
Lower CI
Upper CI
1.89
2.30
1.88
2.27
1.63
1.97
1.94
2.22
1.79
2.05
1.86
2.08
NUMBER
RATE
95
0.51
86
0.42
129
0.51
181
0.46
215
0.47
310
0.48
ICD-10 Q21.2..
Lower CI
Upper CI
0.41
0.62
0.33
0.52
0.43
0.61
0.40
0.53
0.41
0.54
0.43
0.54
Pulmonary Valve Atresia and
Stenosis
NUMBER
RATE
131
0.70
114
0.55
149
0.59
245
0.62
263
0.57
394
0.61
ICD-10 Q22.0, Q22.1
Lower CI
Upper CI
0.59
0.83
0.46
0.66
0.50
0.69
0.55
0.71
0.51
0.65
0.55
0.67
Anotia/microtia
ICD-10 Q16.0, Q17.2
Congenital Heart Defects (all)
ICD-10 Q20.., Q26..
Common Truncus
Tetralogy of Fallot
(Includes Tetralogy with ASD aka
Pentalogy of Fallot)
ICD-10 Q21.3.., Q21.82
Ventricular Septal Defect
ICD-10 Q21.0
Atrial Septal Defect
ICD-10 Q21.1..
Endocardial Cushion Defect
97-06
(10 years)
41
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
Tricuspid Valve Atresia and
Stenosis
NUMBER
RATE
1
0.03
4
0.10
3
0.07
1
0.02
4
0.09
7
0.14
4
0.08
5
0.10
8
0.16
2
0.04
Lower CI
Upper CI
0.00
0.03
0.01
0.00
0.02
0.06
0.02
0.03
0.07
0.00
ICD-10 Q22.4
0.13
0.25
0.21
0.12
0.22
0.29
0.20
0.22
0.31
0.14
NUMBER
RATE
6
0.16
2
0.05
1
0.02
1
0.02
4
0.09
2
0.04
3
0.06
3
0.06
4
0.08
3
0.06
Lower CI
Upper CI
0.06
0.01
0.00
0.00
0.02
0.00
0.01
0.01
0.02
0.01
0.33
0.17
0.12
0.12
0.22
0.14
0.17
0.17
0.20
0.17
(excludes sub aortic stenosis)
NUMBER
RATE
13
0.34
8
0.20
11
0.27
4
0.10
4
0.09
11
0.23
7
0.14
6
0.12
11
0.22
5
0.10
Lower CI
Upper CI
0.18
0.09
0.14
0.03
0.02
0.11
0.06
0.04
0.11
0.03
ICD-10 Q23.0
0.58
0.39
0.48
0.24
0.22
0.40
0.28
0.25
0.39
0.23
Hypoplastic Left Heart
Syndrome
NUMBER
RATE
6
0.16
8
0.20
12
0.30
19
0.45
13
0.29
18
0.37
12
0.24
20
0.39
14
0.28
18
0.36
Lower CI
Upper CI
0.06
0.09
0.15
0.27
0.15
0.22
0.12
0.24
0.15
0.21
ICD-10 Q23.4
0.33
0.39
0.51
0.71
0.49
0.58
0.41
0.60
0.46
0.56
NUMBER
RATE
15
0.39
13
0.32
13
0.32
16
0.38
13
0.29
19
0.39
30
0.59
21
0.41
26
0.51
24
0.47
Lower CI
Upper CI
0.22
0.17
0.17
0.22
0.15
0.24
0.40
0.25
0.34
0.30
0.64
0.55
0.55
0.62
0.49
0.61
0.85
0.62
0.75
0.70
(i.e. cleft palate alone)
NUMBER
RATE
34
0.88
24
0.60
34
0.84
30
0.72
27
0.60
26
0.53
40
0.79
34
0.66
38
0.75
36
0.71
Lower CI
Upper CI
0.61
0.38
0.58
0.48
0.40
0.35
0.57
0.46
0.53
0.50
ICD-10 Q35..
1.23
0.89
1.17
1.02
0.87
0.78
1.08
0.92
1.03
0.98
(i.e. cleft lip alone)
NUMBER
RATE
21
0.54
18
0.45
14
0.35
15
0.36
22
0.49
27
0.55
32
0.63
26
0.51
17
0.34
21
0.41
ICD-10 Q36..
Lower CI
Upper CI
0.34
0.83
0.27
0.71
0.19
0.58
0.20
0.59
0.31
0.74
0.37
0.81
0.43
0.89
0.33
0.74
0.20
0.54
0.26
0.63
NUMBER
RATE
31
0.80
33
0.82
36
0.89
32
0.76
23
0.51
55
1.13
35
0.69
45
0.88
54
1.07
40
0.79
ICD-10 Q37..
Lower CI
Upper CI
0.55
1.14
0.57
1.16
0.62
1.23
0.52
1.08
0.32
0.77
0.85
1.47
0.48
0.96
0.64
1.17
0.80
1.39
0.56
1.08
Cleft Lip with and without
Cleft Palate
NUMBER
RATE
52
1.35
51
1.27
50
1.23
47
1.12
45
1.00
82
1.68
67
1.33
71
1.38
71
1.40
61
1.20
ICD-10 Q36.., Q37..
Lower CI
Upper CI
1.01
1.77
0.95
1.67
0.92
1.62
0.83
1.49
0.73
1.34
1.34
2.09
1.03
1.68
1.08
1.74
1.10
1.77
0.92
1.55
Ebstein’s Anomaly
ICD-10 Q22.5
Aortic Valve Stenosis
Coarctation of the Aorta
ICD-10 Q25.1..
Cleft Palate without Cleft Lip
Cleft Lip without Cleft Palate
Cleft Lip and Cleft Palate
42
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
97-06
(10 years)
02-11
(10 years)
97-11
(15 years)
Tricuspid Valve Atresia and
Stenosis
NUMBER
RATE
15
0.08
13
0.06
26
0.10
28
0.07
39
0.09
54
0.08
ICD-10 Q22.4
Lower CI
Upper CI
0.04
0.13
0.03
0.11
0.07
0.15
0.05
0.10
0.06
0.12
0.06
0.11
NUMBER
RATE
12
0.06
14
0.07
15
0.06
26
0.07
29
0.06
41
0.06
Lower CI
Upper CI
0.03
0.11
0.04
0.11
0.03
0.10
0.04
0.10
0.04
0.09
0.05
0.09
(Excludes sub aortic stenosis)
NUMBER
RATE
48
0.26
40
0.19
40
0.16
88
0.22
80
0.17
128
0.20
ICD-10 Q23.0
Lower CI
Upper CI
0.19
0.34
0.14
0.26
0.11
0.22
0.18
0.28
0.14
0.22
0.17
0.24
Hypoplastic Left Heart
Syndrome
NUMBER
RATE
56
0.30
58
0.28
82
0.33
114
0.29
140
0.31
196
0.30
ICD-10 Q23.4
Lower CI
Upper CI
0.23
0.39
0.21
0.36
0.26
0.40
0.24
0.35
0.26
0.36
0.26
0.35
NUMBER
RATE
60
0.32
70
0.34
120
0.48
130
0.33
190
0.41
250
0.39
Lower CI
Upper CI
0.25
0.41
0.26
0.43
0.40
0.57
0.28
0.39
0.36
0.48
0.34
0.44
NUMBER
RATE
172
0.92
149
0.72
174
0.69
321
0.82
323
0.71
495
0.77
ICD-10 Q35..
Lower CI
Upper CI
0.79
1.07
0.61
0.85
0.59
0.80
0.73
0.91
0.63
0.79
0.70
0.84
(i.e. cleft lip alone)
NUMBER
RATE
71
0.38
90
0.44
123
0.49
161
0.41
213
0.47
284
0.44
ICD-10 Q35..
Lower CI
Upper CI
0.30
0.48
0.35
0.54
0.41
0.58
0.35
0.48
0.40
0.53
0.39
0.49
NUMBER
RATE
139
0.74
155
0.75
229
0.91
294
0.75
384
0.84
523
0.81
ICD-10 Q35..
Lower CI
Upper CI
0.63
0.88
0.64
0.88
0.80
1.03
0.67
0.84
0.76
0.93
0.74
0.88
Cleft Lip with and without
Cleft Palate
NUMBER
RATE
210
1.12
245
1.19
352
1.40
455
1.16
597
1.30
807
1.25
ICD-10 Q36.., Q37..
Lower CI
Upper CI
0.98
1.29
1.04
1.35
1.26
1.55
1.05
1.27
1.20
1.41
1.17
1.34
Ebstein’s Anomaly
ICD-10 Q22.5
Aortic Valve Stenosis
Coarctation of the Aorta
ICD-10 Q25.1..
Cleft Palate without Cleft Lip
Cleft Lip without Cleft Palate
Cleft Lip and Cleft Palate
43
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
NUMBER
RATE
7
0.18
7
0.17
9
0.22
7
0.17
8
0.18
5
0.10
6
0.12
9
0.18
8
0.16
1
0.02
Lower CI
Upper CI
0.07
0.07
0.10
0.07
0.08
0.03
0.04
0.08
0.07
0.00
ICD-10 Q03.0..
0.37
0.36
0.42
0.34
0.35
0.24
0.26
0.33
0.31
0.10
Oesophageal Atresia/
Tracheo-oesphageal Fistula
NUMBER
RATE
9
0.23
7
0.17
12
0.30
9
0.21
12
0.27
5
0.10
15
0.30
12
0.23
13
0.26
20
0.39
Lower CI
Upper CI
0.11
0.07
0.15
0.10
0.14
0.03
0.17
0.12
0.14
0.24
ICD-10 Q39.0 – Q39.4
0.44
0.36
0.51
0.41
0.46
0.24
0.49
0.41
0.44
0.61
NUMBER
RATE
37
0.96
40
1.00
33
0.81
42
1.00
43
0.96
51
1.05
57
1.13
53
1.03
44
0.87
44
0.87
Lower CI
Upper CI
0.68
0.71
0.56
0.72
0.69
0.78
0.86
0.77
0.63
0.63
ICD-10 Q40.0
1.32
1.36
1.14
1.36
1.29
1.38
1.46
1.35
1.17
1.17
Small Intestinal Atresia/Stenosis
(all)
NUMBER
RATE
13
0.34
12
0.30
13
0.32
8
0.19
15
0.33
11
0.23
24
0.48
14
0.27
18
0.36
22
0.43
Lower CI
Upper CI
0.18
0.15
0.17
0.08
0.19
0.11
0.30
0.15
0.21
0.27
ICD-10 Q41…
0.58
0.52
0.55
0.37
0.55
0.40
0.71
0.46
0.56
0.66
NUMBER
RATE
6
0.16
10
0.25
6
0.15
5
0.12
6
0.13
6
0.12
16
0.32
3
0.06
11
0.22
14
0.28
Lower CI
Upper CI
0.06
0.12
0.05
0.04
0.05
0.05
0.18
0.01
0.11
0.15
ICD-10 Q41.0…
0.33
0.46
0.32
0.27
0.29
0.26
0.51
0.17
0.39
0.46
Rectal and Large Intestinal
Atresia/Stenosis (all)
NUMBER
RATE
29
0.75
27
0.67
34
0.84
21
0.50
24
0.53
14
0.29
22
0.44
31
0.60
24
0.47
18
0.36
Lower CI
Upper CI
0.50
0.44
0.58
0.31
0.34
0.16
0.27
0.41
0.30
0.21
ICD-10 Q42..
1.08
0.98
1.17
0.77
0.79
0.48
0.66
0.86
0.71
0.56
NUMBER
RATE
1
0.03
1
0.02
4
0.10
0
0
4
0.09
1
0.02
1
0.02
1
0.02
0
0
1
0.02
Lower CI
Upper CI
0.00
0.00
0.03
0.02
0.00
0.00
0.00
0.00
0.13
0.13
0.25
0.22
0.10
0.10
0.10
0.10
NUMBER
RATE
28
0.73
25
0.62
24
0.59
17
0.41
16
0.36
13
0.27
19
0.38
25
0.49
22
0.43
15
0.30
Lower CI
Upper CI
0.48
0.40
0.38
0.24
0.20
0.14
0.23
0.32
0.27
0.17
ICD-10 Q42.2…, Q42.3…
1.05
0.92
0.88
0.65
0.58
0.46
0.59
0.72
0.66
0.49
Other Large Intestinal
Atresia/Stenosis
NUMBER
RATE
0
0
1
0.02
6
0.15
4
0.10
4
0.09
0
0
2
0.04
5
0.10
2
0.04
2
0.04
Lower CI
Upper CI
0.00
0.05
0.03
0.02
0.00
0.03
0.00
0.00
ICD-10 Q42.8…, Q42.9…
0.13
0.32
0.24
0.22
0.14
0.22
0.14
0.14
Choanal Atresia/Stenosis
Pyloric Stenosis
Duodenal Atresia/Stenosis
Rectal Atresia/Stenosis
ICD-10 Q42.0…, Q42.1…
Anal Atresia/Stenosis
44
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
02-11
(10 years)
97-11
(15 years)
NUMBER
RATE
31
0.17
38
0.18
29
0.12
69
0.18
67
0.15
98
0.15
ICD-10 Q03.0..
Lower CI
Upper CI
0.11
0.24
0.13
0.25
0.08
0.17
0.14
0.22
0.11
0.19
0.12
0.19
Oesophageal Atresia/
Tracheo-oesphageal Fistula
NUMBER
RATE
48
0.26
49
0.24
65
0.26
97
0.25
114
0.25
162
0.25
ICD-10 Q39.0 – Q39.4
Lower CI
Upper CI
0.19
0.34
0.18
0.31
0.20
0.33
0.20
0.30
0.21
0.30
0.21
0.29
NUMBER
RATE
145
0.78
195
0.95
249
0.99
340
0.87
444
0.97
589
0.91
ICD-10 Q40.0
Lower CI
Upper CI
0.65
0.91
0.82
1.09
0.87
1.12
0.78
0.96
0.88
1.06
0.84
0.99
Small Intestinal Atresia/
Stenosis (all)
NUMBER
RATE
73
0.39
61
0.30
89
0.35
134
0.34
150
0.33
223
0.35
ICD-10 Q41…
Lower CI
Upper CI
0.31
0.49
0.23
0.38
0.28
0.43
0.29
0.40
0.28
0.38
0.30
0.39
NUMBER
RATE
34
0.18
33
0.16
50
0.20
67
0.17
83
0.18
117
0.18
ICD-10 Q41.0…
Lower CI
Upper CI
0.13
0.25
0.11
0.22
0.15
0.26
0.13
0.22
0.14
0.22
0.15
0.22
Rectal and Large Intestinal
Atresia/Stenosis (all)
NUMBER
RATE
130
0.70
135
0.66
109
0.43
265
0.67
244
0.53
374
0.58
ICD-10 Q42..
Lower CI
Upper CI
0.58
0.83
0.55
0.78
0.36
0.52
0.60
0.76
0.47
0.60
0.52
0.64
NUMBER
RATE
16
0.09
10
0.05
4
0.02
26
0.07
14
0.03
30
0.05
Lower CI
Upper CI
0.05
0.14
0.02
0.09
0.00
0.04
0.04
0.10
0.02
0.05
0.03
0.07
NUMBER
RATE
96
0.51
110
0.53
94
0.37
206
0.52
204
0.45
300
0.47
ICD-10 Q42.2…., Q42.3….
Lower CI
Upper CI
0.42
0.63
0.44
0.64
0.30
0.46
0.46
0.60
0.39
0.51
0.41
0.52
Other Large Intestinal
Atresia/Stenosis
NUMBER
RATE
18
0.10
15
0.07
11
0.04
33
0.08
26
0.06
44
0.07
ICD-10 Q42.8…., Q42.9….
Lower CI
Upper CI
0.06
0.15
0.04
0.12
0.02
0.08
0.06
0.12
0.04
0.08
0.05
0.09
Choanal Atresia/Stenosis
Pyloric Stenosis
Duodenal Atresia/Stenosis
Rectal Atresia/Stenosis
ICD-10 Q42.0…., Q42.1….
Anal Atresia/Stenosis
97-06
(10 years)
45
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
NUMBER
RATE
3
0.08
8
0.20
5
0.12
5
0.12
12
0.27
6
0.12
6
0.12
8
0.16
10
0.20
7
0.14
Lower CI
Upper CI
0.02
0.09
0.04
0.04
0.14
0.05
0.04
0.07
0.09
0.06
0.22
0.39
0.28
0.27
0.46
0.26
0.26
0.30
0.36
0.28
NUMBER
RATE
2
0.05
2
0.05
5
0.12
5
0.12
2
0.04
3
0.06
2
0.04
5
0.10
1
0.02
5
0.10
Lower CI
Upper CI
0.01
0.01
0.04
0.04
0.01
0.01
0.00
0.03
0.00
0.03
0.18
0.17
0.28
0.27
0.15
0.17
0.14
0.22
0.10
0.23
NUMBER
RATE
100
5.07
114
5.55
112
5.38
95
4.44
115
5.00
131
5.29
123
4.73
165
6.26
134
5.13
137
5.26
Lower CI
Upper CI
4.13
4.58
4.43
3.59
4.13
4.42
3.93
5.34
4.30
4.42
6.17
6.66
6.47
5.42
6.00
6.28
5.64
7.29
6.08
6.22
(denominator MALE births only)
NUMBER
RATE
62
3.15
86
4.18
93
4.47
95
4.44
79
3.43
103
4.16
121
4.65
111
4.21
127
4.86
126
4.84
Lower CI
Upper CI
2.41
3.35
3.61
3.59
2.72
3.40
3.86
3.46
4.06
4.03
ICD-10 Q54 (excl. Q54.4)
4.03
5.17
5.47
5.42
4.28
5.04
5.56
5.07
5.79
5.76
NUMBER
RATE
2
0.10
3
0.15
2
0.10
5
0.23
3
0.13
4
0.16
4
0.15
3
0.11
5
0.19
5
0.19
Lower CI
Upper CI
0.01
0.03
0.01
0.08
0.03
0.04
0.04
0.02
0.06
0.06
ICD-10 Q64.0
0.35
0.41
0.33
0.54
0.37
0.40
0.39
0.32
0.44
0.44
NUMBER
RATE
28
0.73
21
0.52
23
0.57
20
0.48
21
0.47
28
0.57
39
0.77
28
0.54
27
0.53
34
0.67
Lower CI
Upper CI
0.48
0.32
0.36
0.29
0.29
0.38
0.55
0.36
0.35
0.47
ICD-10 Q60..
1.05
0.80
0.85
0.74
0.71
0.83
1.06
0.79
0.78
0.94
Cystic Kidney
(exclude single renal cyst Q61.0)
NUMBER
RATE
34
0.88
43
1.07
32
0.79
39
0.93
27
0.60
37
0.76
31
0.61
36
0.70
45
0.89
35
0.69
Lower CI
Upper CI
0.61
0.78
0.54
0.66
0.40
0.54
0.42
0.49
0.65
0.48
Q61..
1.23
1.44
1.11
1.27
0.87
1.05
0.87
0.97
1.19
0.96
NUMBER
RATE
2
0.05
2
0.05
0
0
1
0.02
1
0.02
2
0.04
1
0.02
1
0.02
3
0.06
0
0
Lower CI
Upper CI
0.01
0.01
0.00
0.00
0.00
0.00
0.00
0.01
ICD-10 Q64.1 (excl Q64.10)
0.18
0.17
0.12
0.11
0.14
0.10
0.10
0.17
Obstructive Genitourinary
Defects (All)
NUMBER
RATE
91
2.36
99
2.47
102
2.51
101
2.41
102
2.27
117
2.40
139
2.75
133
2.59
156
3.08
144
2.84
Lower CI
Upper CI
1.90
2.01
2.05
1.96
1.85
1.99
2.31
2.17
2.62
2.40
ICD-10 Q62.0 – Q62.3, Q64.2, Q64.3
2.90
3.00
3.05
2.93
2.75
2.88
3.25
3.07
3.61
3.35
Hirschsprung Disease
ICD-10 Q43.1..
Biliary Atresia
ICD-10 Q44.2
Undescended Testes
(>36 weeks gestation)
ICD-10 Q53…
Hypospadias
Epispadias
Bladder Exstrophy
46
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
02-11
(10 years)
97-11
(15 years)
54
0.14
70
0.15
91
0.14
0.10
0.20
0.10
0.18
0.12
0.19
0.11
0.17
16
0.08
16
0.06
26
0.07
22
0.07
42
0.07
0.03
0.10
0.04
0.13
0.04
0.10
0.04
0.10
0.05
0.10
0.05
0.09
NUMBER
RATE
441
4.61
536
5.08
690
5.34
977
4.86
1226
5.22
1667
5.05
Lower CI
Upper CI
4.19
5.07
4.66
5.53
4.95
5.75
4.56
5.17
4.93
5.52
4.81
5.29
NUMBER
RATE
363
3.80
415
3.93
588
4.55
778
3.87
1003
4.27
1366
4.13
ICD-10 Q54 (excl. Q54.4)
Lower CI
Upper CI
3.42
4.21
3.56
4.33
4.19
4.93
3.60
4.15
4.01
4.54
3.92
4.36
NUMBER
RATE
10
0.10
15
0.14
21
0.16
25
0.12
36
0.15
46
0.14
ICD-10 Q64.0
Lower CI
Upper CI
0.05
0.19
0.08
0.23
0.10
0.25
0.08
0.18
0.11
0.21
0.10
0.19
NUMBER
RATE
95
0.51
113
0.55
156
0.62
208
0.53
269
0.59
364
0.56
Lower CI
Upper CI
0.41
0.62
0.45
0.66
0.53
0.72
0.46
0.61
0.52
0.66
0.51
0.63
(excludes single renal cyst Q61.0)
NUMBER
RATE
108
0.58
175
0.85
184
0.73
283
0.72
359
0.78
467
0.72
ICD-10 Q61..
Lower CI
Upper CI
0.47
0.70
0.73
0.98
0.63
0.84
0.64
0.81
0.70
0.87
0.66
0.79
NUMBER
RATE
8
0.04
6
0.03
7
0.03
14
0.04
13
0.03
21
0.03
ICD-10 Q64.1 (excl Q64.10)
Lower CI
Upper CI
0.02
0.08
0.01
0.06
0.01
0.06
0.02
0.06
0.02
0.05
0.02
0.05
Obstructive Genitourinary
Defects (All)
NUMBER
RATE
397
2.12
495
2.40
689
2.74
892
2.27
1184
2.59
1581
2.45
ICD-10 Q62.0 – Q62.3, Q64.2, Q64.3
Lower CI
Upper CI
1.92
2.34
2.20
2.62
2.53
2.95
2.12
2.42
2.44
2.74
2.33
2.58
Hirschsprung Disease
ICD-10 Q43.1..
Biliary Atresia
ICD-10 Q44.2
Undescended Testes
(>36 weeks gestation)
ICD-10 Q53….
Hypospadias
Epispadias
ICD-10 Q60..
Cystic Kidney
Bladder Exstrophy
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
NUMBER
RATE
21
0.11
33
0.16
37
0.15
Lower CI
Upper CI
0.07
0.17
0.11
0.22
NUMBER
RATE
10
0.05
Lower CI
Upper CI
97-06
(10 years)
47
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
NUMBER
RATE
63
1.63
59
1.47
63
1.55
62
1.48
62
1.38
79
1.62
90
1.78
95
1.85
104
2.06
97
1.91
Lower CI
Upper CI
1.26
1.12
1.19
1.14
1.06
1.28
1.43
1.50
1.68
1.55
2.09
1.90
1.99
1.90
1.77
2.02
2.19
2.26
2.49
2.34
NUMBER
RATE
6
0.16
11
0.27
12
0.30
8
0.19
7
0.16
9
0.18
12
0.24
9
0.18
7
0.14
11
0.22
Lower CI
Upper CI
0.06
0.14
0.15
0.08
0.06
0.08
0.12
0.08
0.06
0.11
ICD-10 Q62.10 & Q62.11
0.33
0.49
0.51
0.37
0.32
0.35
0.41
0.33
0.28
0.39
Vesicoureteric Junction
Obstruction
NUMBER
RATE
0
0
1
0.02
4
0.10
2
0.05
2
0.04
2
0.04
4
0.08
4
0.08
0
0
4
0.08
Lower CI
Upper CI
0.00
0.03
0.01
0.01
0.00
0.02
0.02
0.02
ICD-10 Q62.12 & Q62.13
0.13
0.25
0.16
0.15
0.14
0.20
0.19
0.20
Hydronephrosis
ICD-10 Q62.0..
Pelviureteric Junction Obstruction
NUMBER
RATE
3
0.08
2
0.05
3
0.07
4
0.10
3
0.07
6
0.12
8
0.16
2
0.04
5
0.10
3
0.06
Lower CI
Upper CI
0.02
0.01
0.01
0.03
0.01
0.05
0.07
0.00
0.03
0.01
0.22
0.17
0.21
0.24
0.19
0.26
0.31
0.13
0.23
0.17
NUMBER
RATE
74
1.92
69
1.72
90
2.22
63
1.50
82
1.82
95
1.95
122
2.42
109
2.12
120
2.37
102
2.01
Lower CI
Upper CI
1.51
1.34
1.78
1.16
1.45
1.58
2.01
1.74
1.97
1.64
ICD-10 Q65
2.41
2.18
2.73
1.92
2.26
2.38
2.88
2.56
2.84
2.44
Congenital Hip Dislocation
Subluxation and Dysplasia
NUMBER
RATE
47
1.22
43
1.07
55
1.36
49
1.17
53
1.18
71
1.46
84
1.66
74
1.44
84
1.66
71
1.40
Lower CI
Upper CI
0.90
0.78
1.02
0.87
0.88
1.14
1.33
1.13
1.33
1.10
ICD-10 Q65.0-Q65.5 & Q65.80-Q65.81
1.62
1.44
1.76
1.55
1.54
1.84
2.06
1.81
2.06
1.77
Reduction Deformity, Upper
Limbs
NUMBER
RATE
26
0.67
37
0.92
33
0.81
31
0.74
19
0.42
35
0.72
40
0.79
50
0.97
33
0.65
49
0.97
Lower CI
Upper CI
0.44
0.65
0.56
0.50
0.25
0.50
0.57
0.72
0.45
0.72
ICD-10 Q71..
0.99
1.27
1.14
1.05
0.66
1.00
1.08
1.28
0.92
1.28
Reduction Deformity, Lower
Limbs
NUMBER
RATE
18
0.47
12
0.30
17
0.42
17
0.41
14
0.31
18
0.37
22
0.44
25
0.49
16
0.32
23
0.45
Lower CI
Upper CI
0.28
0.15
0.24
0.24
0.17
0.22
0.27
0.32
0.18
0.29
ICD-10 Q72..
0.74
0.52
0.67
0.65
0.52
0.58
0.66
0.72
0.51
0.68
NUMBER
RATE
17
0.44
15
0.37
8
0.20
17
0.41
12
0.27
17
0.35
18
0.36
20
0.39
18
0.36
17
0.34
Lower CI
Upper CI
0.26
0.21
0.09
0.24
0.14
0.20
0.21
0.24
0.21
0.20
0.71
0.62
0.39
0.65
0.46
0.56
0.56
0.60
0.56
0.54
Posterior Urethral Valves
ICD-10 Q64.20
Congenital Deformities Hip (All)
0.47
Diaphragmatic Hernia
ICD-10 Q79.0, Q79.11, Q79.12
48
Appendix A.3
2014
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
NUMBER
RATE
234
1.25
309
1.50
465
1.85
ICD-10 Q62.0..
Lower CI
Upper CI
1.10
1.42
1.34
1.68
Pelviureteric Junction
Obstruction
NUMBER
RATE
27
0.14
ICD-10 Q62.10 & Q62.11
Lower CI
Upper CI
Vesicoureteric Junction
Obstruction
NUMBER
RATE
ICD-10 Q62.12 & Q62.13
Lower CI
Upper CI
Hydronephrosis
97-06
(10 years)
02-11
(10 years)
97-11
(15 years)
543
1.38
774
1.69
1008
1.56
1.68
2.02
1.27
1.50
1.57
1.81
1.47
1.66
44
0.21
48
0.19
71
0.18
92
0.20
119
0.18
0.10
0.21
0.16
0.29
0.14
0.25
0.14
0.23
0.16
0.25
0.15
0.22
0
0
9
0.04
14
0.06
9
0.02
23
0.05
23
0.04
0.02
0.08
0.03
0.09
0.01
0.04
0.03
0.08
0.02
0.05
NUMBER
RATE
16
0.09
15
0.07
24
0.10
31
0.08
39
0.09
55
0.09
ICD-10 Q64.20
Lower CI
Upper CI
0.05
0.14
0.04
0.12
0.06
0.14
0.05
0.11
0.06
0.12
0.06
0.11
Congenital Deformities Hip
(All)
NUMBER
RATE
388
2.08
378
1.83
548
2.18
766
1.95
926
2.02
1314
2.04
ICD-10 Q65
Lower CI
Upper CI
1.88
2.29
1.65
2.03
2.00
2.37
1.81
2.09
1.89
2.16
1.93
2.15
Congenital Hip Dislocation,
Subluxation and Dysplasia
NUMBER
RATE
289
1.55
247
1.20
384
1.52
536
1.36
631
1.38
920
1.43
ICD-10 Q65.0-Q65.5 & Q65.80-Q65.81
Lower CI
Upper CI
1.37
1.74
1.05
1.36
1.38
1.68
1.25
1.48
1.27
1.49
1.34
1.52
Reduction Deformity, Upper
Limbs
NUMBER
RATE
146
0.78
146
0.71
207
0.82
292
0.74
353
0.77
499
0.77
ICD-10 Q71..
Lower CI
Upper CI
0.66
0.92
0.60
0.83
0.71
0.94
0.66
0.83
0.69
0.86
0.71
0.84
Reduction Deformity, Lower
Limbs
NUMBER
RATE
84
0.45
78
0.38
104
0.41
162
0.41
182
0.40
266
0.41
ICD-10 Q72..
Lower CI
Upper CI
0.36
0.56
0.30
0.47
0.34
0.50
0.35
0.48
0.34
0.46
0.36
0.47
NUMBER
RATE
71
0.38
69
0.33
90
0.36
140
0.36
159
0.35
230
0.36
Lower CI
Upper CI
0.30
0.48
0.26
0.42
0.29
0.44
0.30
0.42
0.30
0.41
0.31
0.41
Posterior Urethral Valves
Diaphragmatic Hernia
ICD-10 Q79.0.., Q79.11, Q79.12
49
Appendix A.3
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
Abdominal Wall Defects (all)
ICD-10 Q79.2 to Q79.5
Omphalocele
ICD-10 Q79.2
Gastroschisis
ICD-10 Q79.3
All Chromosome Anomalies
ICD-10 Q90-Q99
Trisomy 13
ICD-10 Q91.4-Q91.7
Trisomy 18
ICD-10 Q91.0-Q91.3
Down Syndrome (Trisomy 21)
ICD-10 Q90..
2014
2002
2003
2004
2005
2006
2007
2008
2009
2010
2011
NUMBER
RATE
27
0.70
33
0.82
33
0.81
41
0.98
40
0.89
39
0.80
48
0.95
52
1.01
52
1.03
58
1.14
Lower CI
Upper CI
0.46
0.57
0.56
0.70
0.64
0.57
0.70
0.76
0.77
0.87
1.02
1.16
1.14
1.33
1.21
1.10
1.26
1.33
1.35
1.48
NUMBER
RATE
10
0.26
12
0.30
12
0.30
10
0.24
10
0.22
11
0.23
19
0.38
23
0.45
25
0.49
24
0.47
Lower CI
Upper CI
0.12
0.15
0.15
0.11
0.11
0.11
0.23
0.28
0.32
0.30
0.47
0.52
0.51
0.44
0.41
0.40
0.59
0.67
0.73
0.70
NUMBER
RATE
16
0.42
14
0.35
13
0.32
24
0.57
27
0.60
25
0.51
23
0.46
26
0.51
20
0.40
29
0.57
Lower CI
Upper CI
0.24
0.19
0.17
0.37
0.40
0.33
0.29
0.33
0.24
0.38
0.67
0.58
0.55
0.85
0.87
0.76
0.68
0.74
0.61
0.82
NUMBER
RATE
151
3.92
175
4.36
170
4.19
216
5.16
198
4.40
227
4.66
222
4.39
252
4.90
243
4.80
224
4.42
Lower CI
Upper CI
3.32
3.74
3.59
4.49
3.81
4.07
3.84
4.32
4.22
3.86
4.59
5.06
4.87
5.89
5.06
5.31
5.01
5.54
5.45
5.04
NUMBER
RATE
5
0.13
9
0.22
10
0.25
9
0.21
12
0.27
20
0.41
15
0.30
20
0.39
11
0.22
12
0.24
Lower CI
Upper CI
0.04
0.10
0.12
0.10
0.14
0.25
0.17
0.24
0.11
0.12
0.30
0.42
0.45
0.41
0.46
0.63
0.49
0.60
0.39
0.41
NUMBER
RATE
18
0.47
13
0.32
18
0.44
28
0.67
22
0.49
23
0.47
28
0.55
32
0.62
35
0.69
25
0.49
Lower CI
Upper CI
0.28
0.17
0.26
0.44
0.31
0.30
0.37
0.43
0.48
0.32
0.74
0.55
0.70
0.97
0.74
0.71
0.80
0.88
0.96
0.73
NUMBER
RATE
69
1.79
92
2.29
82
2.02
111
2.65
87
1.94
118
2.42
97
1.92
108
2.10
125
2.47
119
2.35
Lower CI
Upper CI
1.39
1.85
1.61
2.18
1.55
2.01
1.56
1.72
2.06
1.95
2.26
2.81
2.51
3.19
2.39
2.90
2.34
2.54
2.94
2.81
50
Appendix A.3
Q Chapter (Q00-Q99)
Diagnostic Category
and
ICD-9/BPA Code
Abdominal Wall Defects (all)
ICD-10 Q79.2-Q79.5
Omphalocele
ICD-10 Q79.2
Gastroschisis
ICD-10 Q79.3
All Chromosome Anomalies
ICD-10 Q90-Q99
Trisomy 13
ICD-10 Q91.4-Q91.7
Trisomy 18
ICD-10 Q91.0-Q91.3
Down Syndrome (Trisomy 21)
ICD-10 Q90..
2014
97-01
(5 years)
02-06
(5 years)
07-11
(5 years)
NUMBER
RATE
125
0.67
174
0.84
249
0.99
Lower CI
Upper CI
0.56
0.80
0.72
0.98
NUMBER
RATE
49
0.26
Lower CI
Upper CI
97-06
(10 years)
02-11
(10 years)
97-11
(15 years)
299
0.76
423
0.92
548
0.85
0.87
1.12
0.68
0.85
0.84
1.02
0.78
0.92
54
0.26
102
0.40
103
0.26
156
0.34
205
0.32
0.19
0.35
0.20
0.34
0.33
0.49
0.21
0.32
0.29
0.40
0.28
0.36
NUMBER
RATE
50
0.27
94
0.46
123
0.49
144
0.37
217
0.47
267
0.41
Lower CI
Upper CI
0.20
0.35
0.37
0.56
0.41
0.58
0.31
0.43
0.41
0.54
0.37
0.47
NUMBER
RATE
649
3.47
910
4.42
1168
4.64
1559
3.97
2078
4.54
2727
4.23
Lower CI
Upper CI
3.21
3.75
4.13
4.71
4.37
4.91
3.77
4.17
4.34
4.74
4.07
4.39
NUMBER
RATE
31
0.17
45
0.22
78
0.31
76
0.19
123
0.27
154
0.24
Lower CI
Upper CI
0.11
0.24
0.16
0.29
0.24
0.39
0.15
0.24
0.22
0.32
0.20
0.28
NUMBER
RATE
84
0.45
99
0.48
143
0.57
183
0.47
242
0.53
326
0.51
Lower CI
Upper CI
0.36
0.56
0.39
0.58
0.48
0.67
0.40
0.54
0.46
0.60
0.45
0.56
NUMBER
RATE
330
1.77
441
2.14
567
2.25
771
1.96
1008
2.20
1338
2.07
Lower CI
Upper CI
1.58
1.97
1.95
2.35
2.07
2.44
1.83
2.11
2.07
2.34
1.97
2.19
51
2014
Appendix A.4 Numbers of Cases, Anomalies and Anomalies per Case 1997–2011
Live Births (L), Stillbirths (S) and Fetal losses <20 weeks (T)
Year
Alberta
Total Births
(L & S)
# Cases
(L, S & T)
Case Rate/1000
Total Births
# Anomalies
(L, S & T)
Anomaly
Rate/1000
Total Births
Average #
Anomalies/
Case
1997
36797
1141
31.01
2005
54.49
1.76
1998
37715
1213
32.16
2219
58.84
1.83
1999
38044
1225
32.20
2435
64.00
1.99
2000
36860
1310
35.54
2373
64.38
1.81
2001
37454
1398
37.33
2609
69.66
1.87
2002
38540
1395
36.20
2568
67.10
1.85
2003
40120
1539
38.36
2626
65.45
1.71
2004
40570
1580
38.95
2931
72.25
1.86
2005
41890
1607
38.36
2883
68.82
1.79
2006
44954
1624
36.13
2728
60.68
1.68
2007
48708
1880
38.60
3131
64.28
1.67
2008
50512
2022
40.03
3479
68.87
1.72
2009
51420
2088
40.61
3628
70.56
1.74
2010
50590
2196
40.41
3681
72.76
1.68
2011
50665
2085
41.15
3625
71.55
1.74
1997–
2011
644869
24303
37.69
42939
66.59
1.77
52
2014
Appendix A.5 Chi Trend Table for Reported Anomalies 1997–2011
Χ2
p Value
Direction*
Duodenal atresia/stenosis
0.25
0.6171
↔
↔
Rectal and large intestinal
atresia/stenosis (all)
Rectal atresia/stenosis
12.03
8.46
0.0005
0.0036
↓
↓
0.6714
↔
Anal atresia/stenosis
5.70
0.0170
↓
3.94
0.0472
↑
atresia/stenosis
2.19
0.1389
?↓
Hirschsprung’s disease
1.55
0.2131
?↑
Holoprosencephaly
1.70
0.1923
?↑
Biliary atresia
0.14
0.7083
↔
Microcephaly
4.21
0.0402
↑
Anophthalmia/Microphthalmia
2.91
0.0880
?↓
denominator)
4.19
0.0407
↑
Congenital cataract
0.68
0.4096
?↑
Hypospadias (male denominator)
10.29
0.0013
↑
Anotia/Microtia
4.32
0.0377
↑
Epispadias (male denominator)
2.35
0.1253
?↑
Congenital heart defects (all)
2.44
0.1181
↔
Renal agenesis/hypoplasia
2.31
0.1285
?↑
Common truncus
0.002
0.9609
↔
Cystic kidney
1.78
0.1821
?↑
Transposition of great arteries
0.91
0.3401
↔
Bladder exstrophy
0.75
0.3865
?↓
Tetralogy of Fallot
2.65
0.1035
?↑
Obstructive genitourinary defects
Ventricular septal defect
4.79
0.0286
↑
(all)
21.46
<0.0001
↑
Atrial septal defect
6.15
0.0131
↓
Hydronephrosis
28.39
<0.0001
↑
Endocardial cushion defect
0.22
0.6390
?↑
UPJ obstruction
0.93
0.3349
?↑
Pulmonary valve atresia/stenosis
1.71
0.1910
?↓
VUJ obstruction
9.11
0.0025
↑
Tricuspid valve atresia/stenosis
0.44
0.5071
?↑
Posterior urethral valves
0.007
0.9343
↔
Ebstein’s anomaly
0.045
0.8320
↔
Congenital deformities of hip (all)
1.70
0.1923
↔
Aortic valve stenosis
8.31
0.0039
↓
Hypoplastic left heart syndrome
1.02
0.3125
?↑
Coarctation of the aorta
5.49
0.0191
↑
Congenital hip dislocation,
subluxation, dysplasia
Reduction deformity, upper
0.28
0.18
0.5967
0.6714
↔
↔
Reduction deformity, lower
0.0032
0.9549
↔
6.79
0.0092
↓
Diaphragmatic hernia
0.004
0.9496
↔
Abdominal wall defects (all)
14.75
0.0001
↑
(CLO)
1.04
0.3078
?↑
Omphalocele
7.56
0.0060
↑
Cleft lip and cleft palate (CL+CP)
2.70
0.1003
?↑
Gastroschisis
13.33
0.0003
↑
Cleft lip with and without cleft
palate (CL+/-CP)
Choanal atresia/stenosis
All chromosome anomalies
35.04
<0.0001
↑
3.72
1.38
0.0538
0.2401
?↑
?↓
Trisomy 13
7.45
0.0063
↑
Trisomy 18
4.24
0.0395
↑
Trisomy 21
13.25
0.0003
↑
Χ2
p Value
Direction*
Anencephaly
1.41
0.2351
?↓
Spina bifida without anencephaly
0.44
0.5071
?↑
Encephalocele
0.04
0.8415
Neural tube defects (all)
0.18
Anomaly
Hydrocephalus without spina
bifida
Other large intestinal
Arhinencephaly/
Cleft palate without cleft lip
(CPO)
Cleft lip without cleft palate
Oesophageal atresia/tracheaoesophageal fistula
Pyloric stenosis
0.18
4.40
0.6714
0.0359
↔
↑
0.06
0.8065
↔
Small intestinal atresia/stenosis
(all)
Anomaly
Undescended testes (male
*Direction:↑(up); ↓(down); ↔ (no change); ?↑ or ?↓ (not
statistically significant but a possible trend to watch)
53

Alberta Congenital Anomalies Surveillance System

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