Digital Edition - Contemporary OB/GYN

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CONTEMPOR ARY OB/GYN APRIL 2016 , Vol. 61 , No. 07
JULY 2016
VOL. 61 NO. 07
Expert Advice for Today’s Ob/Gyn For Doctors by Doctors
PRENATAL SCREENING AND DIAGNOSIS ◾ TOOLS TEST DRIVE ◾ SALPINGECTOMY TECHNIQUES ◾ SMFM CONSULT
PRENATAL
GENETIC
SCREENING
PROMISE AND PITFALLS
ContemporaryOBGYN.net
PEER-REVIEWED
Techniques for
salpingectomy
Mae Zakhour, MD, Malaika W
Amneus, MD, and Christine H
Holschneider, MD PAGE 18
SMFM CONSULT
Mircoarray
for prenatal
diagnosis PAGE 24
Anthony R Gregg, MD, MBA, FACOG, FACMG
TOOLS TEST DRIVE
Two products
recommended
for the OR PAGE 34
DIGITAL OB/GYN
Wearable devices
and data flow PAGE 36
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EDITORIAL BOARD
HAVE A QUESTION FOR THE BOARD? SEND IT TO US AT
EDITOR IN CHIEF
[email protected]
DEPUTY EDITOR
CHARLES J LOCKWOOD, MD, MHCM
JON I EINARSSON, MD, PHD, MPH
Senior Vice President, USF Health
Dean, Morsani College of Medicine
Associate Professor of Obstetrics and Gynecology
Harvard Medical School
University of South Florida
Brigham and Women’s Hospital
Director, Division of Minimally Invasive Gynecologic Surgery
TAMPA, FL
BOSTON, MA
YOUR EDITORIAL BOARD
PAULA J ADAMS HILLARD, MD
JOHN O DELANCEY, MD
CHRISTIAN PETTKER, MD
Professor, Department of Obstetrics
and Gynecology, Chief, Division of
Gynecologic Specialties
Norman F Miller Professor of
Gynecology, Director, Pelvic
Floor Research, Group Director,
Fellowship in Female Pelvic
Medicine and Reconstructive
Surgery
Associate Professor, MaternalFetal Medicine, Department of
Obstetrics, Gynecology and
Reproductive Sciences
Stanford University
School of Medicine
STANFORD, CA
University of Michigan
Medical School
HAYWOOD L BROWN, MD
ANN ARBOR, MI
F. Bayard Carter Professor and
Chair, Obstetrics and Gynecology
SARAH J KILPATRICK, MD, PHD
Duke University Medical Center
Helping Hand Endowed Chair,
Department of Obstetrics and
Gynecology
DURHAM, NC
ILANA CASS, MD
Cedars-Sinai Medical Center
Vice Chair, Associate Clinical
Professor, Department of Obstetrics
and Gynecology
LOS ANGELES, CA
STEVEN J ORY, MD
Cedars-Sinai Medical Center
Professor of Obstetrics and
Gynecology
LOS ANGELES, CA
Yale School of Medicine
NEW HAVEN, CT
SHARON T PHELAN, MD
Professor, Department of
Obstetrics and Gynecology
University of New Mexico
ALBUQUERQUE, NM
JOE LEIGH SIMPSON, MD
Executive Associate Dean for
Academic Affairs, Professor of
Obstetrics and Gynecology,
and Human and Molecular
Genetics
JOSHUA A COPEL, MD
Florida International University
Florida International University
College of Medicine
Professor, Obstetrics, Gynecology,
and Reproductive Sciences, and
Pediatrics
MIAMI, FL
MIAMI, FL
Partner
IVF Florida
Yale School of Medicine
MARGATE, FL
NEW HAVEN, CT
FOUNDING JOHN T QUEENAN, MD
EDITOR Professor and Chair Emeritus, Department of Obstetrics and Gynecology
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JULY 2016
CONTEMPOR ARY OB/GYN
1
IN THIS ISSUE
july 2016
VOLUME 61 | NUMBER 07
12
PEER-REVIEWED
Preconception genetic
screening
18
ANTHONY R GREGG, MD,
FACOG, FACMG
SMFM CONSULT
Use of microarray
34
SOCIETY FOR MATERNAL-FETAL
MEDICINE; LORRAINE DUGOFF,
MD; MARY E NORTON, MD; AND
JEFFREY A KULLER, MD
TOOLS TEST DRIVE
Electro Lube and
WiCAM
JAMES GREENBERG, MD
A tool to prevent sticking during
electrosurgery and a wireless
endoscope camera with LED
light source are put through their
paces by our product reviewer.
Your questions about this
prenatal screening technique
answered.
Patient handout online
Techniques for
salpingectomy
MAE ZAKHOUR, MD,
MALAIKA W AMNEUS, MD, AND
CHRISTINE H HOLSCHNEIDER, MD
Expanded screening answers
questions that we could not
answer in the past, but brings
with it new uncertainties.
24
PEER-REVIEWED
Bilateral salpingectomy should
be considered in patients
who are already undergoing
hysterectomy for other
indications.
36
DIGITAL OB/GYN
Streaming healthcare
BRIAN A LEVINE, MD, MS, FACOG
Apps and wearables that track
activity and fitness are fun, but
won’t be truly useful until they
flow data into patients’ EHS.
GUEST EDITORIAL
42
CAREERS/ADVERTISER INDEX
JOE LEIGH SIMPSON, MD
The future of prenatal diagnosis
will bring increased precision and
unprecedented knowledge about
fetal conditions.
10
45
LEGALLY SPEAKING
DAWN COLLINS, JD
A patient claims her ob/gyn failed
to screen her for cystic fibrosis.
READERS REACT
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GUEST EDITORIAL
by JOE LEIGH SIMPSON, MD
Preimplantation genetic
diagnosis: its time is now
Indications for PGD have extended far beyond single-gene disorders.
P
reimplantation genetic
diagnosis (PGD) is 25
years old. Its technology and novel indications have long
dazzled, but some continued to feel
that the field was just boutique medicine. In 2016 we can now confidently
state that PGD is an integral part of
not only medical genetics but also,
increasingly, reproductive medicine
and infertility care. Evolving technology has welded pragmatism with vision. Here I review developments that
have made this transition feasible.
Obtaining DNA through
trophectoderm biopsy
There have always been 3 sources
for obtaining embryonic DNA for
PGD: (1) polar body biopsy, prior
to or at the time of fertilization, (2)
blastomere biopsy from the 3-day
6- to 8-cell cleaving embryo, and (3)
trophectoderm biopsy from the 5- to
6-day blastocyst. Initial work in PGD
involved removal of a single blastomere, the zona pellucida traversed by
mechanical or laser means.
Today, the preferred approach for
PGD involves biopsy of the trophectoderm in the 5- to 6-day blastocyst,
since more than a single cell can be
safely removed, and thus more DNA
4
SMFM answers clinicians’ key questions about chromosomal
microarray for prenatal diagnosis on page 24.
MY MUST
READS
Visit www.contemporaryobgyn.net to download a patient
education handout, also on chromosomal microarray.
is available. A further advantage is
that the trophectoderm forms the
placenta; thus, the 5–10 cells removed were never destined to be part
of the embryo itself (inner cell mass).
PGD for single-gene
disorders
When first performed, the intention
of PGD was to diagnose single-gene
disorders. Approximately 20% of PGD
cases are now performed on couples
at risk for one or more single-gene
disorders. Despite the miniscule
amount of DNA, PGD can be performed whenever the chromosomal
location of the gene causing the disorder is known. The causative mutation need not even be known so long
as affected and unaffected family
members are available to determine
markers linked to the mutation site.
This allows one to deduce whether a
given embryo has or has not inherited the mutation.
More than 300 different conditions have been tested worldwide.
The most frequent are hemoglobinopathies, cystic fibrosis, and fragile
X syndrome. In 2015, Rechitsky and
colleagues tabulated their experience
with single-gene disorders at Reproductive Genetic Innovations (RGI):
2982 cycles involving 1685 patients.1
This yielded 1095 pregnancies and
1118 live births; 47 pregnancies were
ongoing at the time of publication.
PGD has certain advantages over
traditional PGD. PGD cases can obviously detect abnormalities much
earlier than can chorionic villus sampling and amniocentesis, thus avoiding termination of a clinical pregnancy. PGD is also the only practical
approach for a couple in which one
partner is at risk for an adult-onset
disorder, wishes to remain unaware of
his or her genotype, and yet does not
want to transmit a potentially serious
mutation to his or her offspring. Multiple embryos can be screened with
only unaffected embryos transferred;
the patient can, if desired, remain
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GUEST EDITORIAL
thus whether he/she is or is not destined to develop the disorder (nondisclosure PGD). The most common
indications for nondisclosure PGD
are adult-onset cancers, Huntington’s
disease, and autosomal-dominant
early-onset Alzheimer’s disease.
A third indication pragmatically
necessitating single-gene PGD occurs
when a couple is at risk for offspring
with a genetic disorder involving bone marrow derivatives (eg,
β-thalassemia). The couple may wish
not only to avoid another abnormal
child with these typically autosomalrecessive disorders, but also to ensure
that the transferred embryo has a human leukocyte antigen (HLA) profile
compatible with their older, perhaps
moribund child. If so, the affected
child’s disease could be treated by
umbilical cord blood obtained following the birth of its sibling.
Stem-cell transplantation has a
high success rate (95%) if the cord
blood is HLA-compatible, but less
so (65%) if it is not HLA-compatible.
Given that only 3 of 16 embryos
would be predicted to be both unaffected (3/4) and HLA-compatible
(1/4), only PGD is practical.
PGD aneuploidy to
increase ART success
The “game changer” in PGD is its
capacity to determine presence or
absence of all 24 chromosomes. It
has long been reasoned that transferring only euploid embryos should
increase pregnancy rates, even in
women who otherwise have no
genetic indications for PGD. This
rationale is based on pregnancy rates
in assisted reproductive technology
(ART) markedly declining late in the
mother’s fourth decade, primarily as
6
a result of embryonic losses due to
aneuploid embryos. Decreasing ART
pregnancy rates with advancing maternal age mirror the increasing rate
of miscarriages.
The first available technology to
determine aneuploidy on interphase
embryonic cells was fluorescent in
situ hybridization (FISH). Pregnancy
rates after PGD appeared to be increased in larger centers, and miscarriage rates proved no higher in older
women than in younger women.
tion (array CGH) or 1 of several nextgeneration sequencing (NGS) methods utilizing either single nucleotide
polymorphisms (SNP), quantitative
polymerase chain reaction (PCR), or
copy number variants (CNV).
Initially the protocol involved blastocyst biopsy and 24-chromosome
analysis followed by transfer in the
same cycle. The preferred protocol is now to biopsy all blastocysts,
then analyze and freeze all normal
embryos. Transfer can then occur
THE ‘GAME CHANGER’ IN PGD IS ITS CAPACITY
TO DETERMINE PRESENCE OR ABSENCE OF ALL
24 CHROMOSOMES.
However, only 5–9 chromosomes
could be interrogated on a single cell,
and technical expertise was required.
Although larger centers performing PGD at that time (late 1990s
and early 2000s) never completed a
randomized clinical trial (RCT), other
centers did and found no significant
improvement in pregnancy rates.2
Although valid criticisms have been
directed at RCTs of that era,3,4 enthusiasm predictably diminished. Still
PGD aneuploidy continued in many
centers, but controversy persisted.5
More recently, diagnostic prowess
has improved and clinical efficacy
has been demonstrated. One reason
is that the currently preferred biopsy
approach (trophectoderm from the 5to 6-day blastocyst) has proven more
generalizable. The even greater advance has been the ability to interrogate all 24 chromosomes, using either
array comparative genome hybridiza-
in subsequent cycles synchronized
for embryo implantation, preferably
one embryo into a uterus no longer
hyperstimulated.
RCTs using 24-chromosome interrogation have shown statistically
significant increased pregnancy rates.
As an example, Scott et al reported
sustained implantation rates (leading to delivery) of 66% after 24-chromosome aneuploidy testing on
blastocyst using a quantitative PCR
method, compared with 48% without
PGD (<0.001).6 Impressive RCT results were also shown by Yang et al.7
With PGD, aneuploidy miscarriage
rates unequivocally fall dramatically,8
and pregnancy rates do not show a
maternal age effect until age 42.9
Another benefit of contemporary
PGD aneuploidy testing is its potential to reduce multiple gestations in
ART. Multiple embryos have traditionally been transferred in ART be-
JULY 2016
GUEST EDITORIAL
cause not all embryos generate viable
pregnancies. If all actually did, multiple gestations would result. Forman
and colleagues showed the benefit of
PGD aneuploidy testing in a RCT involving women of mean age approximately 35 years and requiring ART.10
In one group 2 morphologically
normal blastocysts were transferred
without PGD; in the other group, 1
blastocyst known to be euploid by
PGD and was transferred. Pregnancy
rates were not different (65% vs 61%),
but the rate of twins was markedly
different (55% vs 0%).
Unresolved questions
Two general areas of controversy
remain in PGD: 1) What should be
the precise indications for PGD-aneuploidy testing when the sole goal
is to increase ART pregnancy rates;
and 2) Under what circumstances
could mosaic aneuploid embryos be
offered for transfer should no euploid
embryo exist?
A. Maternal age to improve
pregnancy rates
1) Given that aneuploid embryos are
correlated positively with maternal
age, PGD-aneuploidy testing and
transfer of euploid embryos logically
becomes relatively more beneficial
with advancing maternal age. In 2014
the proportion of cycles not using
FISH for diagnostics but array CGH
or next generation sequencing (NGS)
was not stated. It would be expected
that 24-chromosome array CGH or
NGS would increase success in any
group. The age below which limited
presumptive embryo damage would
outweigh predicted benefit of euploid
embryo transfer is still unclear. Also
unclear are related indications of
JULY 2016
repeated pregnancy loss or repeated
implantation failure. Both these
clinical conditions may frequently
Thus mosaicism is not a surprise.
Recall that confined placental mosaicism (CPM) has been recognized
UNDER WHAT CIRCUMSTANCES COULD MOSAIC
ANEUPLOID EMBRYOS BE TRANSFERRED
SHOULD NO EUPLOID EMBRYO EXIST?
be the result of aneuploidy. Indeed,
in RPL miscarriage rates have long
been known to decrease with PGDaneuploidy, using FISH for only 5–9
chromosomes.
Uncertainties in setting an age
threshold do not apply to known benefit of PGD when a balanced translocation is present in either parent.
Without PGD the length of time to
conception is greatly increased, with
a mean of 4-5 years.12,13 This reflects
the existence of few transferable normal embryos. Thus, with PGD both
abnormal offspring and lengthy time
to conception can be avoided.
B. Mosaic embryos
2) A second area requiring clarification involves status of mosaic embryos: mosaic monosomy (eg, monosomy
46, XX, -3/46, XX) or mosaic trisomy
(eg, 46, XX, +16/46, XX). At first in array 24 chromosome CGH relatively
few mosaic embryos were reported
because sensitivity was designed
mostly to detect whole aneuploidies.
Next-generation sequencing (NGS)
methods now used are more sensitive
than array CGH, capable of detecting a
single aneuploid cell among the 5–10
in a trophectoderm biopsy.
Of note, trophectoderm cells are
destined to develop into the placenta.
for decades in prenatal diagnosis.
Approximately 1%–2% of CVS or amniocentesis samples are mosaic and
subjected to diagnostic algorithms. At
the May 2016 meeting of the Preimplantation Genetic Diagnosis International Society (PGDIS) it was reported
that 20% of mosaic trophectoderm
biopsies were mosaic. In turn, earlier
this year, a brief letter by Florentino
et al pointed out that, if transferred,
some mosaic monosomies can lead
to a livebirth.15 At the PGDIS meeting
this rate was estimated to be 5%.
Given this small potential for success, when transferring mosaic aneuploidy blastocysts, how should the
not-infrequent occurrence of mosaic
aneuploid embryos be handled clinically? In most cases, if in a cohort of
embryos some are clearly non-mosaic euploid, no controversy exists. It
would be illogical to transfer a mosaic
aneuploid embryo. If no euploid embryos exist, one should first recommend 1 or more additional cycles,
perhaps “batching” embryos for
PGD-aneuploidy testing at a single
time in hopes of finding a euploid
embryo to transfer.
Suppose, however, that there exist only mosaic aneuploid embryos.
Suppose further that the patient is
relatively older and unlikely to ever
7
GUEST EDITORIAL
produce few to no non-mosaic euploid embryos. In this circumstance
one can consider transfer of mosaic
aneuploid embryos. Of course, discussion with the couple is obligatory,
and amniocentesis recommended in
the event of an ongoing pregnancy.
Priority preferential sequence should
be devised for transfer of mosaic
embryos. For example, embryos trisomic for a chromosome capable of a
viable livebirth (Nos. 13, 18, and 21)
are clearly less desirable than those
mosaic for a chromosome never reported to result in a livebirth.
At present, a blastocyst embryo
mosaic for monosomy seems preferable to one with trisomy, because
monosomic cells do not survive, leaving only euploid cells.
Summary
In 2016 PGD has a well-defined role.
Indications have extended far beyond
the single-gene disorders that initiated
the field 25 years ago to encompass
HLA-typing for umbilical and cordblood stem cell transplantation. Twenty-four-chromosome PGD aneuploidy
testing identifies euploid embryos to
transfer, thus improving the pregnancy
rates in ART while reducing the occurrence of multiple gestations.
Miscarriage rates in ART are
greatly reduced using PGD, and
transfer of euploid embryos allows
pregnancy rates to remain relatively
undiminished until age 42. All this
enables single-embryo transfer to be
practical. REFERENCES
1. Rechitsky S, Pakhalchuk T, San Ramos G.
First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or with advanced maternal age pre-
8
implantation human leukocyte antigen typing,
combined with 24-chromosome aneuploidy
testing. Fertil Steril. 2015; 103:2. 503–512.
ciated with a parental carrier of a structural
chromosome rearrangement. Hum Repro
2006;21 1076-1082.
2. Mastenbroek S, Twisk M, Goddijn M, et al.
3*' ² D PRGHO WR HYDOXDWH HIÀFDF\" )HUWLO
Steril. 2006; 85:2. 535-536
12. Sugiura-Ogasawara M, Ozaki Y, Sato T,
Suzumori N, Suzumori K. Poor prognosis of
recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril
2004; 81: 367-373.
3. Munné S., Cohen J., Simpson, JL. In vitro fertilization with Preimplantation Genetic
Screening (Letter). New Engl J Med. 2007;
357:17. 1769-1770.
4. Munné S., Gianaroli L, Tur-Kaspa I, et al.
Substandard application of preimplantation
genetic screening may interfere with its clinical success. Fertil Steril. 2007; 88:4. 781-784.
5. Simpson JL. What next for preimplantation
JHQHWLFVFUHHQLQJ"5DQGRPL]HGFOLQLFDOWULDO
LQ DVVHVVLQJ 3*6 QHFHVVDU\ EXW QRW VXIÀ
cient. Hum Reprod. 2008; 23:10. 2179-2181.
6. Schoolcraft WB, Katz-Jaffe MG. Comprehensive chromosome screening of trophHFWRGHUPZLWKYLWULÀFDWLRQIDFLOLWDWHVHOHFWLYH
single-embryo transfer for infertile women with
advanced maternal age. Fertil Steril. 2013;
100:3.615–619.
7. Yang Z, Liu J, Collins, GS, et al. Selection of
single blastocysts for fresh transfer via standard morphology assessment alone and with
array CGH for good prognosis IVF patients:
results from a randomized pilot study. Mol Cytogenet. 2012; 5:24. 1755-8166.
8. Hordes-Wertz MD, Grifo J, Ghadir S, et al.
Idiopathic recurrent miscarriage is caused
mostly by aneuploid embryos. Fertil Steril.
2012; 98:3. 675-680.
9. Harton GL, Munne S, Surrey M, et al. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis
and array comparative genomic hybridization.
Fertil Steril. 2013; 100:6. 1695-1703.
10. Forman EJ, Hong KH, Franasiak JM,
Scott Jr RT. Obstetrical and neonatal outcomes from the BEST Trial: single embryo
transfer with aneuploidy screening improves
outcomes after in vitro fertilization without
compromising delivery rates. Am J Obstet
Gynecol. 2013; 210:157.e1–e6.
11. Stephenson MD, Sierra S. Reproductive
outcomes in recurrent pregnancy loss asso-
13. PGDIS 2016 Position Statement on chromosomal mosaicism detected in PGD by
EODVWRF\VW ELRSV\ 7UDQVIHU RU QRW WUDQVIHU"
http://www.pgdis.org/
14. Greco E, Minasi MG, Fiorentino F. Healthy
babies after intrauterine transfer of mosaic aneuploidy blastocysts.. New Engl J Med 2015;
373:21. 2089-2090.
Dr Simpson, a member of the Contemporary
OB/GYN editorial board, is Executive
Associate Dean for Academic Affairs and
Professor of Obstetrics and Gynecology and
Human and Molecular Genetics at Florida
International University College of Medicine,
Miami.
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FROM YOU
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JULY 2016
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The FemTouch treats post-menopausal and post-natal symptoms, including:
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– Darush Mohyi, M.D., Gynecology & Reproductive Medicine
La Jolla Cosmetic Laser Clinic, La Jolla, CA
©2016. All Rights Reserved. The Lumenis Group of Companies.
PB-2005117 rev A
READERS REACT
have a comment?
SEND YOUR THOUGHTS TO [email protected]
Testing the water in the
credentialing pool
[Regarding “A credentialing test
for EFM,” May 2016 Contemporary OB/GYN] The authors attempt
to convince us that it’s time we jump
in with both feet. I say, “Wait one minute, I want to test the water!” The presumption is (and I’m a believer) that
consistent nomenclature improves
communication. Roger that. The socalled Category II tracing, without
qualification, is insufficient without a
lot of detail to make it useful. However,
the history of EFM use has taught us to
be cautious.
I am from the era when we were
taught that EFM was capable of reliably detecting the compromised fetus. Forty years later, after many tarnished careers and billions of dollars,
we know the truth. The Grimes article
referenced (number 12) tells us that
we have been attempting to measure
temperature with a barometer. How
insane! Haven’t we learned anything?
Before we spend time and money on
yet another certification, let’s prove it
is useful. Please!
Armando P Russo, MD
VINELAND, NEW JERSEY
IN REPLY:
We appreciate the reader’s caution in
evaluating the utility of the Perinatal
Quality Foundation (PQF) Fetal Monitoring Certification. The limitations
10
of electronic fetal monitoring (EFM)
and the NICHD 3-tier classification
system are well known. It is also well
established that standard nomenclature and an ability to communicate
clearly with a resulting common understanding among team members is
important.1,2
There is evidence that training in
EFM interpretation as a component of
a patient safety bundle does lead to better outcomes.3,4 The PQF EFM certification provides a ready-made statistically
valid standardized certification that can
aid institutions in their quality efforts.
PEER-REVIEWED
CREDENT IALING
A credentialing test
for EFM
The Perinatal Quality Founda
tion’s exam tests clinician knowle
dge
of fetal heart rate monitoring
technology using simulation.
by MICHAEL P NAGEOTTE, MD; MARK
W TOMLINSON, MD; AND MARIN O’KEEFE,
E
lectronic fetal heart rate
monitoring (EFM) is an
integral part of labor
and delivery management with the goals of
reducing neonatal mortality
and longterm neurologic morbidity.
Whether
these goals are consistently
reached is
unclear, but EFM is used in
nearly 85%
of all deliveries in the United
States.1
Despite concerns about its
value in
improving obstetric care,
EFM will
continue to be widely used
because it
is generally accepted as having
clinical
value and is clearly a labor-saving
alternative to intermittent auscultation
of the fetal heart.
Although EFM does not accurately
QUICK
TAKE
RN
The PQF’s exam tests
5 areas of knowledge with
particular emphasis
on risk and management of
Category II FHR tracings.
ABOG accepts passage
of the PQF exam as an option
for
PHHWLQJRQHRIWKHDQQXDO0D
LQWHQDQFHRI&HUWLÀFDWLRQ02&3
DUW,9
requirements.
predict poor neurologic outcome,
it
has clear value in detection
of the fetus at increased or decreased
risk of
ongoing hypoxia and/or acidosis.2,3
As
such, considerable efforts
have been
made to accurately categorize
specific fetal heart rate (FHR) patterns
and
promulgate agreed-upon defi
nitions
and nomenclature of the various
aspects of EFM in an effort to
improve
communication, patient safety,
and
obstetric outcomes. In 1999
and 2008,
DR NAGEOTTE
is Associate Chief
0HGLFDO2IÀFHU0LOOHU&KLOG
UHQ·VDQG
Women’s Hospital, Long Beach,
California, and Professor, Department
of Obstetrics and Gynecology,
University of California, Irvine.
He has
QRFRQÁLFWRILQWHUHVWWRUHSRUWZLWK
respect to the content of this
article.
the National Institute of Child
Health
and Human Development
(NICHD)
held workshops on EFM.4,5
The American College of Obstetrician
s and Gynecologists (ACOG) followed
in 2010
with guidelines for interpretatio
n
and management.6 Here we
provide
an overview of the Perinatal
Quality
Foundation (PQF)’s credentialing
test,
a new method of assessing
provider
competence with EFM to
improve
outcomes.
DR TOMLINSON is Regional
MS O’KEEFE
Medical Director for Obstetrics,
Providence Health System
Oregon,
and an MFM Specialist with
Northwest
Perinatal/Women’s Healthcare
Associates, Portland, Oregon.
He has
QRFRQÁLFWRILQWHUHVWWRUHSRUWZLWK
respect to the content of this
is Program
Director, Perinatal
Quality Foundation,
Oklahoma City,
Oklahoma.
article.
MAY 2016
19
READ THE ARTICLE AND LET US
KNOW WHAT YOU THINK.
CONTEMPORARYOBGYN.NET/EFM-CREDS
REFERENCES
1. The Joint Commission. Preventing infant
death and injury during delivery. Sentinel
Event Alert. 2004 [cited 2016 February 12].
2. Electronic Fetal Heart Rate Monitoring: research guidelines for interpretation. National
Institute of Child Health and Human Development Research Planning Workshop. Am J
Obstet Gynecol. 1997;177:1385-90.
3. Clark SL, M.J., Frye DK, Perlin JA., Patient
safety in obstetrics-the Hospital Corporation
of America experience. Am J Obstet Gynecol.
2011;204:283-287.
4. Pettker CM, T.S., Lipkind HS, Illuzzi JL,
Buhimschi CS, Raab CA, Copel JA, Lockwood C, Funai EF. A comprehensive obstetric patient safety program reduces liability
claims and payments. Am J Obstet Gynecol.
2014;211:319-325.
Mark W Tomlinson, MD
Michael P Nageotte, MD
Marin O’Keeffe, RN
Sexual
health
education
for teens
´+RZ WR ÀOO JDSV LQ VH[XDO KHDOWK
HGXFDWLRQμ 0D\ covered a
subject that I am passionate about. As
the article said, I have seen less teen
pregnancy but more STDs. I take care
of many young minority patients who
have not been properly educated about
their sexual health. I have heard over
and over again from my patients who
are moms to adolescents that they did
not know how to educate them.
JULY 2016
READERS REACT
I have founded a non-profit called
Not On Our Watch (NOOW). This organization is dedicated to educating
young women about their bodies and
sexual health in a nonthreatening atmosphere. I take local pediatricians
and family practice doctors and pair
them with local nurses to speak to
young ladies in a small group. We part-
ner with the City of Birmingham Division of Youth Services so we can reach
the most at-risk students.
An involved parent is important,
but I have found that a lot of my teens
still do not want to talk to their parents
because they think that it means they
are sexually active and will be punished. Talking with the girls one-on-
one in my office is helpful and they
get to ask questions without feeling
judged. When they are in a group they
feed off of one anothers’ questions
and energy and it is amazing to watch!
I would love to expand this program
beyond Birmingham.
Tomeka Roberts, MD, FACOG
BIRMINGHAM, ALABAMA
Malpractice versus ‘malocurrence’
>5HJDUGLQJ´7KHEHVWRIWLPHVRU
WKHZRUVWRIWLPHV"$WDOHRIWZR
VXUYH\Vμ0D\@I compliment
the authors for a well-researched,
succinct, and well-written article. The
paradox is clear. The problem for the
foreseeable future is the inability of
our tort system to adjudicate the difference between malpractice and maloccurrence. This structural handicap
renders actuarial and financial analysis impossible. The American ob/gyns,
through their carriers, ultimately pay
(mostly through settlements) the price
of nature’s faults. There is no question
that misjudgments and errors occur
during the practice of obstetrics. Yet,
in some jurisdictions (including my
own) discovery rules prevent us from
having meaningful peer review. Thus,
we learn little and we share even less.
Couple this with the fact that, as a
specialty, we are in the unfortunate
HAVE
YOUR
SAY
ONLINE
JULY 2016
PRACTICE MATTERS
The best of times or
the worst of times?
A tale of two surveys
2EJ\QV·IHDURIEHLQJVXHGPD\EHGLVSRUSRUWLRQDWHWRWKH
IUHTXHQF\RIPDOSUDFWLFHFODLPV
by PHILLIP M COX II, ESQ, LHRM, AND EDMUND F FUNAI, MD
A
pprehension over
professional liability litigation and discontent with related
liability insurance
availability continues to negatively affect the practice patterns of obstetric
and gynecological providers nationwide, leading to widespread defensive
medical practices, according to newly
released data from the 2015 American
College of Obstetricians and Gynecologists (ACOG) Survey on Professional
Liability.1
Paradoxically, the 2015 results of
the professional liability insurance
industry’s trusted Medical Liability
Monitor’s Annual Rate Survey reported an almost decade-long decline in
the frequency of medical malpractice
MR COX is Associate Vice
President, Quality, Safety and
Risk, USF Health, Tampa, Florida.
26
QUICK
TAKE
Fear of being sued often leads ob/gyns to practice
“defensive
medicine,” limiting choices for women who need care.
7KHIUHTXHQF\RIPDOSUDFWLFHFODLPVEHLQJÀ
OHGLVDWD´KLVWRULFORZμ
according to one survey.
actions being filed nationwide and
more than 8 years of medical malpractice premium rate decreases nationwide with only the slightest increase
(0.3%) in 2015. Ob/gyns saw their average rate marginally increase for the
first time in many years by a meager
0.5 percent. Furthermore, the medical
professional liability insurance market is projected to be flat with continued rate declines for a least the next 3
to 4 years.2
Why do these 2 surveys, from 2
well-respected sources, report such
seemingly inconsistent results? A
closer look at the data provides some
answers.
7KHVXHGREJ\QDSURÀOH
Designed to study the effects of professional liability on ob/gyns, the 2015
ACOG survey questioned providers
on their claims experiences and the
effects of litigation fears and liability insurance costs on their practice
patterns. A review of the survey data
DR FUNAILV&KLHI2SHUDWLQJ2IÀFHU86)+HDOWKDQG9LFH3UHVLGHQWIRU
Strategic Development, University of South Florida, Tampa,
Florida. Neither
DXWKRUKDVDFRQÁLFWRILQWHUHVWWRUHSRUWZLWKUHVSHFWWRWKHFRQWHQ
WRIWKLVDUWLFOH
PROFESSIONAL LIABILITY
results in the following picture of a
typical respondent. (The percentage
of respondents from the survey that
match the typical profile appears in
parentheses.)
Our provider is a 51-year-old woman (56.1%) rendering both obstetric and gynecologic care (71.8%) in a
group practice setting (42.7%). On average, she does 25.7 total procedures
per month including 8.3 vaginal deliveries, 3.5 cesarean deliveries, 2.3 surgical assists, and 2.2 hysterectomies.
When she was 36 years old, our provider was sued for medical malpractice for the first time (73.6%). The case
involved the delivery of a neurologically impaired infant (27.4%) delivered
by cesarean section (40.5%). A primary
factor in the allegations of negligence
involved electronic fetal monitoring.
(22.1%). This case was dropped by
the plaintiff (33.5%) with no payment
made (47.8%).
The second time she was sued (average number of claims=2.59), the
case involved a surgical complication (42.0%) during a hysterectomy
(27.0%), which resulted in a major
injury (27.9%). This case was settled
(35.9%) with an indemnity payment
of $424,388 to the plaintiff.
Due to the risk/fear of professional
liability claims or litigation, our provider has changed her practice patterns (49.7%) and sees few, if any,
high-risk obstetric patients (23.8%)
and no longer performs or offers
VBACs (13.4%).1
In addition to changes made by the
illustrative respondent above, more
than one-third of ob/gyns (39.8%)
have made changes to their practices
due to the affordability and/or availability of medical professional liability
insurance, the survey found.1
A 2014 SURVEY FOUND THAT
10%
OF PHYSICIANS
ARE SEEKING NONCLINCIAL
EMPLOYMENT,
18%
ARE CUTTING THEIR WORK
HOURS, AND
39%
ARE ACCELERATING THEIR
RETIREMENT PLANS.
SOURCE: Physicians Foundation
0DOSUDFWLFHFDUULHU
HFRQRPLFWUHQGV
In contrast, Medical Liability Monitor’s 2015 Rate Survey found that
the frequency of malpractice claims
filings is at a “historic low.” These low
levels are projected to remain “very
stable” and are allowing insurance
carriers to “release” reserved funds
set aside to pay potential claims. The
release of these funds essentially creates profits for the carriers, propping
up their financial outlook.2
PRACTICE MATTERS
The survey also reports that healthcare reforms and business trends in
the US health system have resulted in
fewer private-practice physicians, who
continue to transition to employment
by health systems and large practice
groups, thereby decreasing the customer base for medical liability insurers. In addition, these practice groups
are increasingly moving to captive
insurance or risk retention groups,
“thereby removing even more potential insureds from the medical professional liability (MPL) market and
threatening [insurance carrier] market share.”2
At the same time, due to the high
profits to be made from underwriting
malpractice coverage, the number of
insurance companies that serve hospitals, health systems, physicians, and
surgeons has increased, which means
that more companies are chasing a
smaller amount of business.
Therefore, while rates were up
slightly in 2015, powerful downward
pressures on medical liability premium rates are projected to continue for
the next 3-4 years.2
Projected loss rates for obstetric
claims occurring in 2016 have been estimated at $172 per birth, down from
projections in 2013 of $193 per birth.3
3HUFHSWLRQWUXPSVWUHQGV
It’s been said that what you see depends a great deal on where you are
standing. If you are standing in the
shoes of our prototypical ob/gyn, your
perception is likely framed more by
past experience or the experience of
your peers than by current malpractice insurance industry trends. Fiftysix percent of the 2015 ACOG survey
respondents were age 51 or older.
These providers have been practic-
MAY 2016
MAY 2016
READ THE ARTICLE AND LET US
KNOW WHAT YOU THINK.
CONTEMPORARYOBGYN.NET/LIABILITY-SURVEY
position of practicing with a relative
lack of Level A evidence. Hence, our
clinical judgment is deemed faulty by
virtue of poor outcomes. Our tort system thrives on witness inconsistency
and diversity of opinion to yield the
result most favorable to the party that
27
can mount the best narrative. All this
does a disservice to our patients and
has created a toxic environment in
which to practice. It is no wonder the
ACOG survey reports what has been
known for years—ob/gyns drop OB
as soon as is practicable. What a sad
commentary.
Finally, let’s not be fooled by the
favorable med-mal rates now. It is all
part of the business cycle. Until we
solve the unreasonable societal expectation of perfection and have an
equitable system to adjudicate patient
injury, rates will increase as they did in
the 1980s and early 2000s. Worse still,
when profitability decreases, carriers
will leave the market and scatter like
roaches when the lights are turned on.
It will be déjà vu all over again!
Armando P Russo, MD
VINELAND, NEW JERSEY
'R\RXWKLQNFHUWLÀFDWLRQVKRXOGEHUHTXLUHGIRUHYHU\RQHSHUIRUPLQJ()0"+DVWKH$PHULFDQWRUWV\VWHPFUHDWHG
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VHQGLQJDQHPDLOWR'U/RFNZRRG#DGYDQVWDUFRP
11
PEER-REVIEWED
PRENATAL GENETIC
TESTING
Expanded carrier
screening:
Are you prepared?
Expanded screening answers questions that we could not answer
in the past, but brings with it new uncertainties.
by ANTHONY R GREGG, MD, MBA, FACOG, FACMG
N
ext generation sequencing (NGS) technology represents a
challenge to traditional prenatal genetic screening for recessive conditions.
Specifically, what has been dubbed
“expanded carrier screening” (ECS)
makes gene-by-gene or a la carte genetic screening menus obsolete. Before the advent of NGS, sequencing
was labor-intensive, costly, and slow,
and it was difficult to screen large
numbers of people for multiple genetic conditions and to evaluate many
pathogenic variants (aka mutations)
within the same gene. With NGS, genetic information (nucleotides) can be
evaluated (sequenced) rapidly and at
low cost.1
ECS may not be the best choice when family history for a single-gene
QUICK
TAKE
disorder is positive.
When one member of a couple tests positive, sequencing the
partner’s gene is not recommended.
Two basic principles
The hierarchical approach to carrier
screening for single-gene disorders
(positive family history followed by racial/ethnic identification) has evolved
to include panethnic, multiple-condition screening, using more pathogenic
variants. Expanded carrier screening
utilizes genetic technology, panels
with specific genes and variants as
targets or sequencing strategies with
results for specific genes whose pathogenic variants are selectively reported.
These technologies can be applied using the hierarchical approach or they
can be used in a panethnic fashion to
identify carriers in those with unsuspecting ancestry or unknown family
history. Importantly, when family history for a single gene disorder is positive, ECS may not be the best choice
because family-specific and alreadyidentified pathogenic variants may not
be included on commercially available
screening panels. Genetic counseling
by a trained professional should be
DR GREGG is the BL Stalnaker Professor, Chief of Maternal-Fetal Medicine and Director of Obstetrics at UF Health Shands
+RVSLWDO8QLYHUVLW\RI)ORULGD*DLQHVYLOOH+HKDVQRFRQÁLFWVRILQWHUHVWWRUHSRUWLQUHVSHFWWRWKHFRQWHQWRIWKLVDUWLFOH
12
JULY 2016
PRENATAL GENETIC TESTING
FIGURE 1
3KHQRW\SHVWUDWLÀFDWLRQ
10
9
8
Score
7
6
Tier:1
2
3
4
5
4
3
2
1
t
p
Fe
r
Ex
l
F
Va
r
s
Dy
en
ta
n
M
g
in
ar
Pa
i
er
He
nc
Ca
sio
n
f
Vi
Bi
rth
de
ob
at
Ad
M
fe
Li
te
Tr
e
In
Li
fe
In
f
l
0
Abbreviations: Lif Inf, death in infancy; Intel, intellectual disability; Treat, availability of treatment; Life
Ad, death in early adulthood; Mob, impaired mobility, Birth def, major organ birth defect; Vision, visual
impairment; Cancer, cancer predisposition; Hearing, hearing impairment; Pain, associated with pain;
Mental, mental illness; Dys F, dysmorphic features; Var Exp, variable expressivity; Fert, impaired fertility
considered before implementing ECS
in cases of a family history of a singlegene disorder. At the heart of ECS is a
requirement that patients and providers understand 2 basic principles.
Principle 1. A population-based approach is used to identify carrier
parents who are at risk of having a
child with a serious, often intellectually disabling, heritable condition. Traditionally screening focused
on recessive conditions, in which
mother and father are carriers but do
not manifest a phenotype. Today’s
ECS “panels,” however, frequently include semi-dominant (eg, factor V
Leiden, prothrombin gene, alpha 1antitrypsin) and sex linked (eg, fragile X mental retardation) conditions.
This means that screened parents can
learn that they have a previously unrecognized health risk. These conditions might also pose health implications for the unborn child, children
already in the home, and relatives. The
JULY 2016
contrary is also true. Some genes and
variants included for screening by ECS
laboratories are dubious with respect
to pathogenicity. A prime example is
MTHFR, and there are others. Furthermore, some conditions on panels
demonstrate variable penetrance (age
of onset or absence of expression) and
variable expressivity (phenotypic variation). When ECS approaches fail to
consider these concerns, patient anxiety and cost can escalate.
Adopting ECS either selectively or
panethnically clearly can add complexity to posttest counseling compared to gene-by-gene screening for
cystic fibrosis (CF) and spinal muscular atrophy (SMA). This aspect of
ECS has troubled many and has led
to the slow adoption of ECS into clinical practice. One response by industry has been to allow patients and
providers to have some autonomy in
selecting conditions to be screened.
Another response has been to remove
potentially important genetic infor-
PEER-REVIEWED
mation from screening panels (eg,
Factor V Leiden, prothrombin gene).
An ethical argument can be made that
if health risks of a parent or other family member can be mitigated by results
obtained after ECS, patients should be
allowed access to this information. If
the ethical argument holds, then obstetricians should not be troubled if
patients are informed about their own
health risks. Recall that when performing fetal imaging patients are not
counseled that incidental findings are
possible. They are not told that these
incidental findings could inform patients of increased health risks. Often
ovarian cysts and placenta implantation concerns are identified, but they
do not lead to a call to abandon fetal
imaging, nor is concealment from the
patient an option. Relying on a knowledge base, the response is to convey
accurate and useful information. Pretest counseling today requires a brief
discussion so that patients understand
results of screening may inform them
of their own health risks and risk to
other family members.
A “serious” condition is easy to recognize by the ravages it imposes. Likewise, the unaffected or unimpaired are
easy to spot. Moving from each end of
the spectrum creates a problem in defining “serious,” because the term has
many shades of gray. The most appropriate conditions for prenatal ECS are
difficult to name when they are not the
most or least severe. This is due in part
to variable expressivity (a spectrum of
signs and symptoms that may be expressed differently among persons
with the same genetic condition) and/
or variable penetrance (proportion
of people that will manifest signs or
symptoms despite having a pathogenic variant in a disease-causing gene).
13
PEER-REVIEWED
Just as patients with placenta previa,
preterm labor, and seizure disorder
can have a varied clinical course, so
too can patients with cystic fibrosis or
sickle cell disease.
The problem also lies in the phenotype of the conditions screened. Debate
GENETIC
SCREENING
TERMS
DEFINED
14
over the conditions to include within
the gray zone lacks scientific inquiry
and recognition that this may be best
determined by a patient or the family undergoing screening. Educated
healthcare professionals were asked to
rank phenotypes by category6 (x-axis in
In 1991 the American College of
Obstetricians and Gynecologists
(ACOG) provided one of its
earliest genetic screening
recommendations aimed at those
with and without a family history
RIF\VWLFÀEURVLV2 Screening is
the implementation of a public
health effort to identify those
who do not demonstrate signs
or symptoms of the condition
being screened. Screening
UHÁHFWVHIIRUWVWRLGHQWLI\WKRVH
who would not otherwise be
recognized as at risk. In the
context of genetics, screening
is undertaken to identify carriers
of a condition. A carrier is one
who can transmit a condition, but
does not manifest the condition.
Every pregnancy carries risk,
which can be grouped by
categories including those that
are maternal (eg, development
of diabetes), obstetrical (eg,
hemorrhage), and genetic (eg,
carrying a fetus with a serious
inherited condition). Most
obstetricians are familiar with
genetic risk in the context of fetal
aneuploidy (eg, Down syndrome)
and recessive single-gene
GLVRUGHUVHJF\VWLFÀEURVLV
Calculating the risk that a parent
is a carrier of a heritable change
in a gene (aka mutation or
pathogenic variant) capable of
causing an abnormal phenotype
Figure 1). Conditions that impact lifespan (especially in infancy and childhood), affect intellectual function, and
those that can be treated were considered most appropriate for screening
(Tier 1). Conditions that impair fertilCONTINUED ON PAGE 16
depends on a hierarchy that
begins with family history. When
DÀUVWGHJUHHUHODWLYHLVWKH
proband, risk can be determined
using straightforward Mendelian
genetic calculations. When
a second-degree or more
GLVWDQWUHODWLYHLVLGHQWLÀHGULVN
calculations often rely on more
complex Bayesian analysis.
When family history is negative
RUXQNQRZQULVNFDQEHUHÀQHG
by using population carrier
frequency information, which
LVRIWHQVSHFLÀHGIRUUDFHDQG
ethnicity (eg, Tay-Sachs disease
in Ashkenazi Jewish patients).
Carrier frequency is the percent
RIDGHÀQHGSRSXODWLRQWKDW
carries a pathogenic variant, but
is unaffected. Carrier frequency
can be determined using the
Hardy-Weinberg equilibrium
equation: p2 +2pq + q2 where
q2 is the frequency of those
affected, 2pq the carriers, and p2
those who are neither affected
nor carriers. Knowledge of
the observed frequency of a
condition in the population (q2)
allows one to work backwards
solving for the number of
carriers (2pq), since q+p=1.
Population carrier frequency
(2pq) is necessary to determine
parental risk of being a carrier for
any heritable condition absent a
IDPLO\KLVWRU\,WLVXVHGWRUHÀQH
the risk estimate when carrier
screening results are negative.
Residual risk is the risk left
over after a negative screening
test result. Traditionally, posttest
counseling is provided after
gene-by-gene screening
produces negative carrier results.
During that session, a patient
receives information about her
residual risk of being a carrier.
Genetic screening implemented
without regard to a person’s
race or ethnicity is termed
panethnic. In 2005 ACOG called
for panethnic screening for cystic
ÀEURVLV3 The rationale for this
SDUDGLJPVKLIWZDVWKHGLIÀFXOW\
patients had in self-assigning
to a single race or ethnicity. The
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varies among racial ethnic groups
(from 1/29 in Northern European
Caucasians to 1/94 in people of
Asian ancestry). This is a feature
of many single-gene disorders.
In these cases, the inability to
self-assign leads to imprecise
counseling and risk information.4
In 2008 ACMG recommended
panethnic screening for
spinal muscular atrophy. This
recommendation followed data
that demonstrated a relatively
high (~1/40–1/60) carrier
frequency.5
JULY 2016
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The Harmony Prenatal Test is developed by Ariosa Diagnostics. Ariosa Diagnostics is a laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA).
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References: 1. Norton ME, Jacobsson B, Swamy GK, et al. N Engl J Med. 2015;372(17):1589-1597. 2. Society for Maternal-Fetal Medicine. Cell free DNA screening is not a simple
blood test. https://www.smfm.org/publications/183-cell-free-dna-screening-is-not-a-simple-blood-test. Accessed March 28, 2016.
HARMONY is a trademark of Roche.
© 2016 Roche. PP-US-06701-0316
PEER-REVIEWED
CONTINUED FROM PAGE 14
ity rank least important (Tier 4). In between are a host of conditions that were
not easy to separate (Score of 6-8), including conditions characterized by
reduced adult life expectancy, birth
defects (especially those that impact
mobility), vision loss, cancer predisposition, deafness, and mental health.6
Expanded carrier screening can assess
conditions across the spectrum. Pretest
counseling should include a general
discussion of the types of conditions
being screened, emphasizing “spectrum” and patient-specific importance.
Principle 2. A negative screening
test does not eliminate the possibility that a patient is a carrier.
Recall that residual risk is risk that
remains after a negative test result.
Ob/gyns are familiar with this concept. After a negative mammogram
it is still possible that the test missed
a lesion. The same can be said of colposcopy, colonoscopy, and other
forms of screening. Before ECS, calculating residual risk was easy (carrier frequency x (1- detection rate)).
The factors required to calculate residual risk, populations specific carrier frequency, and detection rate were
known when gene-by-gene screening was performed on targeted racial
ethnic groups. This calculation was
possible because screening occurred
for relatively few conditions that had
high visibility compared to conditions
on ECS platforms. Today, some conditions screened for are so rare that
detection rate and populations carrier frequency are unknown. Adding more pathogenic variants to the
screen will improve the detection
rate, but the zeal to do this at low cost
has been complicated by the obser-
16
FIGURE 2
Relationship: population carrier frequency of
condition, number of variants screened, and burden
of variant within population
Population
Carrier Frequency
(A)
A
B
Common condition.
Variants screened are pathogenic
and represent most of the disease
burden
C
Less common condition
Few variants screened
Residual Risk
(A)
Conditions
vation that not all variants screened
are pathogenic. False positives occur when clinical validity of variants
is not considered. False-negative and
false-positive results are inherent in
any screening program. The solution
is not to abandon the technology, but
to rely on resources that can facilitate
interpretation of test results.
Negative results are straightforward. Patients can be told they were
screened for a large number of conditions and that the results for those
specific conditions suggest a very low
likelihood that they are carriers. Emphasize that it is still possible to be a
carrier, because there is always a residual risk. Therefore, the chance of
having an affected child for the conditions screened will depend on the carrier frequency in the population and
the variants tested. It may be difficult
to calculate the residual risk for each
condition screened, because population carrier frequency (2pq) may be
unknown, or ethnic-specific and the
percent contribution of specific variants may be unknown.
When results are positive, check that
the variant reported is pathogenic be-
fore providing information to patients.
Laboratory-employed genetic counselors can provide information and
are an important resource. Web-based
resources may also be helpful (eg, genetics home reference, gene reviews).
Consider the utility of the Clinical and
Functional Translation of CFTR site
(www.CFTR2.org) to clarify pathogenic variants in cases in which a rare
CFTR variant is identified. In obstetrics
and gynecology there is often a need to
consult radiologists and pathologists
after receiving non-genetic test results.
Providers readily search Internet resources, textbooks, and journals in order to convey accurate information to
patients. The principle with ECS and
genetic testing in general is no different; enlist help when needed.
It is virtually impossible to accurately calculate residual risk for each
condition on an ECS panel (although
some laboratories report values). Genetic counselors and others have expressed concern over lack of precise
residual risk data. When discussing
ECS it may be helpful to consider residual risk as diagrammed (Figure 2).
On the x axis are the conditions being
JULY 2016
PEER-REVIEWED
FIGURE 3
Residual risk and number of conditions screened
Rare Conditions
Residual Rist
Common Conditions
nancy (Figure 3).
Why then do laboratories that offer
ECS continually add to their platforms
conditions with which even trained geneticists are unfamiliar and that can
befuddle a clinician when a carrier
patient is encountered? First, the additional cost is trivial. Second, the motive
may be altruistic. Patients may benefit
from the addition of very rare conditions. Third, as the ECS space becomes
more competitive, companies will need
to do more marketing to survive.
Pitfalls
Number of Conditions
screened. Risk is on the y axis. Each
condition is depicted as a filled circle
before screening (eg, pretest risk =
population carrier frequency) and an
open circle after screening (eg, posttest risk = residual risk). The downward arrow depicts the detection rate.
This arrow is elongated by a employing more pathogenic variants in the
screen and/or when the pathogenic
variants screened make up a substantial portion of disease burden. CF, a
condition with relatively high carrier
frequency in certain populations (A
in the figure), is screened using mutations that move the arrow towards the
x axis (eg, zero risk), but the residual
risk never reaches this position. This is
because laboratories do not screen/report all of the nearly 400 variants that
might be present. Condition B is frequent, but less common than CF, similar to that of SMA with a low residual
risk after screening (~98% detection
rate). Hurler syndrome is depicted by
C, low carrier frequency and modest
detection rates leaving a residual risk
greater than that for SMA. Notice that
some conditions have a low residual
JULY 2016
risk by virtue of their low carrier frequency even when the number of variants screened is minimal (C in the figure). Likewise, some conditions may
have a high residual risk because of a
high carrier frequency and few pathogenic variants are screened.
Conditions on panels
In the era of NGS, gene-by-gene
screening is replaced by efforts to
screen the aggregate of known recessive disorders. Therefore, we must
consider how residual risk across a
spectrum of conditions (common
to rare) changes the residual risk for
the entire pregnancy. The addition of
conditions, from common to rare, to
an ECS platform causes the residual
risk of the entire pregnancy to fall, but
not at a constant rate. Screening first
for common conditions with known
common pathogenic variants has the
greatest impact. As conditions are
added, the number of rare conditions
screened increases. Eventually, conditions with modest carrier frequency
and low detection rates do little to further lower the residual risk of the preg-
Two serious and hidden pitfalls, which
are recognized by most geneticists,
lurk in the condition menu of ECS
platforms..
Hemoglobinopathies are best
screened using red cell indices on the
complete blood count (CBC) and hemoglobin electrophoresis. The ACOG
guideline on this topic remains relevant today.7 Every clinically significant point mutation in the β chain is
not on a molecular based “panel” and
α-thalassemia deletions are not usually on carrier screening platforms.
Carrier testing for Tay-Sachs disease
is complicated by a wide range of carrier frequencies across racial ethnic
groups. Furthermore, there is a lower
detection rate when the carrier frequency is low (short arrow, Figure 2)
as is the case in certain populations.
The pathogenic variants used on ECS
platforms for low carrier frequency
groups are not robust. Therefore carrier testing using NGS as it is applied
is inefficient. The filled circle (Figure 2)
is constrained and doesn’t move to a
lower position when starting in a low
carrier frequency range. Screening for
Tay–Sachs disease is performed most
CONTINUED ON PAGE 33
17
PEER-REVIEWED
GYNECOLOGIC
SURGERY
Techniques for
salpingectomy at
time of hysterectomy
Bilateral salpingectomy should be considered in patients who are
already undergoing hysterectomy for other indications.
by MAE ZAKHOUR, MD; MALAIKA W AMNEUS, MD; AND CHRISTINE H HOLSCHNEIDER, MD
O
nce considered an innocent bystander, the
fallopian tube is now
thought to play an
important role in development of one of the most deadly
gynecologic cancers. Several studies
evaluating risk-reducing salpingo-oophorectomy specimens in women who
are BRCA gene mutation carriers implicate the fallopian tube as the most
common site of occult carcinomas.
Serous tubal intraepithelial carcinomas (STIC), which representative preinvasive fallopian tube pathology, are
18
In light of data and recommendations, many providers and institutions
QUICK
TAKE
are now offering patients opportunistic salpingectomies at the time of
hysterectomy.
An abdominal, laparoscopic, or vaginal approach may be used, and
techniques for each are described here.
also identified in these patients, and
believed to be a part of the pathway of
malignant transformation that results
in high-grade serous carcinomas (HGSCs).1-3 Gene expression and molecular profiling studies demonstrate that
ovarian HGSCs more closely resemble
fallopian tube epithelium than ovarian
surface epithelium.4-6 TP53 mutations
are extremely common in both STIC
lesions and ovarian HGSCs, and more
importantly, the particular mutations
in these 2 lesions have been shown to
be identical.7
While much of the evidence supporting the fallopian tube as the ori-
DR ZAKHOUR is a
DR AMNEUS is a
DR HOLSCHNEIDER is Professor of
fellow in Gynecologic
Gynecologic Oncologist
Clinical Obstetrics and Gynecology at the
Oncology at Olive View-
at Kaiser Permanente
David Geffen School of Medicine at UCLA
UCLA Medical Center,
Medical Group, Panorama
and Chair of the Department of Obstetrics
Sylmar, California, as part
City and Volunteer Faculty
and Gynecology at Olive View-UCLA Medical
of the UCLA/Cedars-Sinai
at Olive View-UCLA
Center, Sylmar, California. None of the
Fellowship in Gynecologic
Medical Center, Sylmar,
DXWKRUVKDVDFRQÁLFWRILQWHUHVWWRUHSRUWLQ
Oncology.
California.
respect to the content of this article.
JULY 2016
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PEER-REVIEWED
GYNECOLOGIC SURGERY
FIGURE 1. The fallopian tube is isolated distally from the ovary
during initial steps of laparoscopic salpingectomy, carefully
LQFRUSRUDWLQJWXEDOÀPEULDHLQWRWKHVSHFLPHQ
gin of HGSC is derived from high-risk
patients, several studies demonstrate
that this is also the case for the remainder of the population at baseline risk,
including some research that shows
a decreased risk of ovarian cancer in
women who have undergone tubal
ligation.8-11
Patients with germline BRCA mutations are particularly predisposed
to ovarian cancer. However, 85%-90%
of ovarian HGSCs arise in patients
without a currently identified genetic
susceptibility.12 Nearly 70% of those
cancers are thought to arise from the
fallopian tube, implying a potential
role for salpingectomy as a means
for ovarian cancer risk reduction in
the general population.4,12 While it remains to be determined whether the
risks outweigh the benefits of performing a bilateral salpingectomy as a
stand-alone procedure in an averagerisk patient, bilateral salpingectomy
certainly should be considered in
patients who are already undergoing
20
FIGURE 2. Correct placement of the cautery instrument immediately adjacent to the fallopian tube incorporating as
OLWWOHRIWKHPHVRVDOSLQJHDOYHVVHOVDVSRVVLEOH
85
%
90
%
TO
OF OVARIAN HGSCs ARISE
IN PATIENTS WITHOUT A
CURRENTLY IDENTIFIED
GENETIC SUSCEPTIBILITY.
NEARLY
70%
OF THOSE CANCERS
ARE THOUGHT TO ARISE
FROM THE FALLOPIAN TUBE.
hysterectomy for other indications.
The operative safety of salpingectomy
in this setting has been demonstrated
in a large retrospective cohort study of
more than 40,000 women.13
Hysterectomy remains one of the
most common surgical procedures,
with approximately 600,000 of these
surgeries performed annually in the
United States. Approximately 90% of
hysterectomies are performed for benign indications, the most common
of which are related to symptoms of
uterine leiomyomas.14,15 In the general
population, the lifetime risk of ovarian
cancer is approximately 1 in 70 women and approximately 22,000 women
are diagnosed annually in the United
States.16
Bilateral oophorectomy, when performed concurrently with hysterectomy for benign disease, has been demonstrated to increase risk of all-cause
mortality and coronary artery disease.
Parker and colleagues’ report that estrogen replacement therapy in the
JULY 2016
GYNECOLOGIC SURGERY
PEER-REVIEWED
FIGURE 3. Incorrect placement of cautery instrument,
FIGURE 4. After the utero-ovarian ligament is transected, a
which incorporates more of the mesosalpinx vasculature
WKDQQHFHVVDU\
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and cervix, still attached to the right-sided triple pedicle,
are gently pushed in the cephalad direction to keep intraSHULWRQHDOFRQWHQWVRXWRIWKHRSHUDWLYHÀHOG
setting of oophorectomy may mitigate
these negative long-term effects was
an observational study which limits
our understanding of the reasons behind estrogen use or non-use in some
patients. Moreover, concerns remain
about patient compliance with hormone therapy.17,18
The potential long-term risks of oophorectomy, in conjunction with data
supporting the fallopian tube as a precursor lesion of HGSC, may make bilateral salpingectomy at the time of
a hysterectomy with ovarian preservation a procedure with a more optimized risk-benefit ratio.
While the safety of risk-reducing
salpingectomy at the time of hysterectomy has been demonstrated
in retrospective studies,19,20 one frequently raised concern is the potential decline in ovarian function
after salpingectomy. A retrospective
study and a randomized controlled
trial (RCT) both have demonstrated
JULY 2016
preservation of normal ovarian function after salpingectomy at the time of
hysterectomy, as measured by surrogate markers of ovarian function, such
as serum anti-mullerian hormone
(AMH), follicle-stimulating hormone
(FSH), and estradiol levels.9,21,22 However, the long-term effects on ovarian
function are less well described in the
literature.
In January 2015, the American College of Obstetricians and Gynecologists (ACOG) published a Committee
Opinion that underscores the potential benefits of salpingectomy at the
time of hysterectomy in patients who
are not undergoing oophorectomy.
ACOG also states that bilateral salpingectomy can be considered as a method of sterilization in patients seeking
permanent contraception, but that RCTs are needed to evaluate bilateral
salpingectomy as an approach to decreasing risk of ovarian cancer.23
Similar recommendations have
been published by our European
colleagues, such as the AGO’s Kommission OVAR, which recommends
preoperative counseling about opportunistic salpingectomy at the time of
hysterectomy, including the potential
risks and benefits.24 Like ACOG, AGO
reports a lack of sufficient evidence
to justify a universal recommendation for opportunistic salpingectomy.
The Society of Gynecologic Oncology
(SGO) put forth a Clinical Practice
Statement in November 2013 stating
that, for women at average risk of ovarian cancer, salpingectomy should be
considered at the time of hysterectomy
or at the time of other pelvic surgery.25
SGO reaffirmed this recommendation
in a 2015 publication.26
In light of these data, many providers and institutions are now offering
patients opportunistic salpingectomies at the time of hysterectomy. Here
we suggest techniques for bilateral salpingectomy at the time of hysterecto-
21
PEER-REVIEWED
GYNECOLOGIC SURGERY
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my, including abdominal, laparoscopic, and vaginal approaches.
Surgical techniques
Laparotomy
In general, we recommend that salpingectomy at the time of abdominal
hysterectomy be performed prior to
hysterectomy because it allows for
complete removal of the entire fallopian tube without the need to reisolate any surgical pedicle. The ampullary portion of the fallopian tube
is grasped with a Babcock clamp and
elevated.
Fenestrations should be made
within the mesosalpinx, isolating
the small vessels that lie between the
ovary and fallopian tube. These vessels are branches of the ovarian and
uterine arteries and may provide additional blood supply to the ovaries.
Small clamps, such as Kelly or tonsil
22
FIGURE 6. After the mesosalpinx is sealed and transected
along the length of the fallopian tube, the clamped proxiPDOIDOORSLDQWXEHRQ&ODPSLVHQFRXQWHUHG,QRUGHUWR
incorporate this tubal segment, a second clamp (Clamp 2)
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RYDULDQOLJDPHQWZKLFKDOORZVIRUWKHÀUVWFODPSWREH
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clamps, are placed across these vessels, favoring the tubal side of the
mesosalpinx, in order to preserve as
much ovarian blood supply as possible. Each pedicle is then transected
and ligated.
fimbriated distal portion of the tube,
which sometimes requires careful dissection of tubal adhesions or
distal tubal cysts off the ovary and
its blood supply. At the cornual segment of the fallopian tube, take care
SALPINGECTOMY AT THE TIME OF ABDOMINAL
HYSTERECTOMY SHOULD BE PERFORMED PRIOR TO THE
HYSTERECTOMY.
Alternatively, a monopolar electrosurgery device with coagulation current or an electrosurgical vessel sealing device can be used. These devices
should be placed immediately adjacent to the tube in order to cauterize
and transect the mesosalpinx.
Be sure to incorporate the entire
to avoid entry into the uterine myometrium, as this region can be particularly vascular. Once detached
from the mesosalpinx, the fallopian
tubes can be left attached to the uterus as the hysterectomy is then performed and can be removed en bloc
with the uterus.
JULY 2016
GYNECOLOGIC SURGERY
PEER-REVIEWED
SALPINGECTOMY AT THE TIME OF VAGINAL HYSTERECTOMY IS OFTEN THE
MOST CHALLENGING OF THESE PROCEDURES.
Laparoscopy
Both traditional and robotic approaches to laparoscopy allow for bilateral
salpingectomy at the time of hysterectomy. A grasper should be used to
hold onto the infundibular portion
of the fallopian tube and to provide
gentle traction toward the anterior abdominal wall. This allows for better exposure and visualization of the plane
between the ovary and fallopian tube.
Any laparoscopic instrument that allows for electrosurgical vessel sealing
and transection of tissue can be used
to dissect across the mesosalpinx.
Alternatively, a monopolar electrosurgery device can be used to cauterize the mesosalpinx before transection
with endoscopic scissors. Again, transect the mesosalpinx as close to the
fallopian tube as possible while ensuring that the tube is entirely removed.
As in the open approach, the fallopian
tubes can be left attached to the uterus
while the hysterectomy is performed
and removed as a single unit once the
hysterectomy is complete.
Vaginal
Salpingectomy at the time of vaginal
hysterectomy is often the most challenging of these procedures. In this
situation, the hysterectomy is performed as usual up to the level of the
“triple pedicles.” At that point, the
first triple pedicle—incorporating the
utero-ovarian ligaments, the fallopian
tubes, and the round ligaments—is
clamped and transected from the uterus. A large clamp, such as a Zeppelin,
Heaney, or long Pean, should be used.
JULY 2016
Then place gentle upward traction on
the uterus to keep the operative field
clear of intraperitoneal contents.
Next evaluate the feasibility of transvaginal salpingectomy by gently turning the clamp on the triple pedicle in
order to make an anatomic assessment. In a technique described by
Kho and colleagues, the round ligament can first be divided to allow better mobilization of the adnexa and access to the proximal fallopian tube.27
The challenge from this point is to incorporate the entire fallopian tube into
the salpingectomy specimen. Leaving
the triple pedicle clamped rather than
suture-ligating it allows for the clamp
to become a handle with which gentle
traction and manipulation of the tube
can be performed.
Once identified, the fimbriated end
of the fallopian tube should be brought
into the operative field with a Babcock
clamp. Transection of the mesosalpinx
begins with freeing the fimbriated end
from the ovary. Again, this can be done
by clamping, transecting, and ligating
isolated vascular pedicles of the mesosalpinx, or with monopolar cautery
or an electrosurgical vessel sealing device. In our experience, an electrosurgical vessel sealing device allows for
more dexterity and easier sealing and
transection of the mesosalpinx during vaginal surgery than individually
clamping, cutting, and ligating each
pedicle.
Once the isthmic portion of the tube
is reached, place a second large clamp
just cephalad to the large clamp that
contains the triple pedicle. This sec-
ond clamp should incorporate only
the utero-ovarian ligament and the
round ligament, leaving the fallopian
tube free. The first large clamp can
then be removed, allowing for completion of the salpingectomy while
the utero-ovarian ligament and the
round ligament remain clamped at all
times. Then remove the fallopian tube
in its entirety. Clamp and transect the
contralateral triple pedicle, and remove the uterus before performing
contralateral salpingectomy. A surgical sponge on a Forester clamp can be
used to gently push the intraperitoneal contents out of the operative field.
Complete the contralateral salpingectomy in a similar fashion after removing the uterus.
Summary
Salpingectomy at the time of hysterectomy with ovarian preservation will
likely become more common as growing evidence implicates the fallopian
tube as the site of origin of high-grade
serous ovarian cancer. Operative considerations include removal of the fallopian tube in its entirety and preservation of ovarian blood supply. The
techniques described here allow for
removal of the fallopian tubes while
respecting these considerations.
Salpingectomy can be performed
safely at the time of hysterectomy via
an open abdominal, minimally invasive, or transvaginal approach. FOR REFERENCES VISIT
contemporaryobgyn.net/salpingectomytechniques
23
SMFM CONSULT QUESTIONS & ANSWERS
FROM THE SOCIETY FOR MATERNAL-FETAL MEDICINE
Chromosomal microarray
for prenatal diagnosis
Your questions about this screening technique answered.
by SOCIETY FOR MATERNAL-FETAL MEDICINE (SMFM); LORRAINE DUGOFF, MD; MARY E NORTON, MD; AND JEFFREY A KULLER, MD
QA
Chromosomal microarray analysis
(CMA) is a high-resolution wholegenome screening technique that can
identify most chromosomal imbalances detected by conventional cytogenetic analysis, as well as smaller
submicroscopic deletions and duplications known as copy-number variants (CNVs). CNVs may cause a range
of disorders, including neurodevelopmental disorders and congenital
anomalies. CMA is recommended as
the first-tier test in postnatal evaluation of congenital abnormalities and
neurodevelopmental disorders.
With accumulating experience over
the last decade and data demonstrating improved detection of chromosomal abnormalities compared to
conventional karyotyping, CMA is
proving to be a valuable diagnostic
tool in the prenatal setting. CMA can
be performed on uncultured DNA
samples, including those obtained
from chorionic villus sampling (CVS)
and amniocentesis, which may lead to
quicker turnaround than karyotyping.
Q|
What are the different types
of microarray?
Two major microarray platforms are
used in prenatal diagnosis: single nucleotide polymorphism (SNP) arrays
and comparative genomic hybridization (CGH) arrays. With SNP and CGH
arrays, DNA from a fetal sample, such
as CVS or amniocentesis, is hybridized
to an array platform consisting of DNA
probes on a solid surface, such as a microscope slide or a silicon chip.
CGH compares the fetal DNA sample with a normal reference DNA sample. An SNP is a variation at a single
position in a DNA sequence among
individuals. With SNP arrays, only the
DNA test sample is hybridized to the
array platform. While CGH arrays are
able to detect only copy number variants, SNP arrays can also detect triploidy and regions on the 2 homologous chromosomes that are identical
to each other, as occurs with uniparental disomy (UPD) and consanguinity.
In the case of UPD, both copies of a
chromosome are inherited from the
same parent, instead of one from each
parent. UPD has been associated with
genetic disorders such as Prader-Willi
syndrome. SNP arrays can also detect
some cases of maternal cell contamination and mosaicism.
Arrays may include probes that cover the whole genome, or may be targeted, with concentrated coverage in
known disease-causing regions of the
genome and more limited coverage of
the rest of the genome.
Q|
What can CMA detect?
How does it differ from a
karyotype?
A standard karyotype can detect aneuploidies (abnormalities in chromosome number), relatively large structural abnormalities such as deletions
or duplications that are microscopically visible to a resolution as low as
approximately 5–10 Mb, and balanced
or unbalanced translocations and inversions. CMA has a higher resolution
than conventional karyotyping, allowing for detection of much smaller
Created in partnership with the Society for Maternal-Fetal Medicine. SMFM was established in 1977 to “give
Maternal-Fetal Medicine (MFM) physicians and scientists a place to share knowledge, research and clinical
best practices in order to improve care for moms and babies.”
24
JULY 2016
Your time.
Your content.
Download the free app.
ContemporaryOBGYN.net/COGApp
SMFM CONSULT
CHROMOSOMAL MICROARRAY ANALYSIS
submicroscopic deletions and duplications, typically down to a 50–100 kb
level. CMA can also detect some copy
number changes near the chromosomal breakpoint sites in rearrangements that appear to be balanced on
a conventional karyotype.
Another advantage of CMA is that
this technique does not require dividing cells, unlike conventional karyotyping, which requires cell culture.
This difference can allow for quicker
turnaround. Also, CMA can be performed on macerated tissue obtained
from stillbirth specimens that may not
grow in tissue culture, and thus, may
be more likely to provide a result as
long as sufficient good-quality DNA
can be obtained.
Q|
What are the limitations of
CMA?
Because CMA looks for genomic imbalance, it cannot detect totally balanced chromosomal rearrangements,
such as translocations or inversions.
Most balanced rearrangements, however, result in normal outcomes. In
addition, CMA does not provide information about the chromosomal mechanism of a genetic imbalance. Therefore, a karyotype should be performed
in such cases to rule out a translocation that may have been inherited.
Low-level mosaicism may not be detected by CMA and some arrays do not
detect triploidy. SNP arrays, however,
are generally able to detect lower levels of mosaicism, as well as triploidy.
CMA will not detect all CNVs, such
as those that are in regions not represented on the array platform and very
small CNVs that are below the level of
detection. In some cases, a postnatal CMA may identify a CNV that was
not identified prenatally due to the
26
higher resolution of postnatal arrays.
In addition, CMA will not detect point
mutations within single genes, including those that cause disorders such as
sickle cell anemia, cystic fibrosis, and
many skeletal dysplasias.
Q|
What are the risks and
disadvantages of CMA?
A disadvantage of CMA is the inability
to precisely interpret the clinical significance of a previously unreported
CNV or to accurately predict the phenotype of some CNVs that are associated with variable outcomes. CNVs are
characterized as benign, clinically significant (ie, pathogenic), and VUS. The
overall prevalence of VUS is approximately 1% to 2%. Additional information on the classification of CNVs is
rapidly accumulating, which should
lead to a decrease in incidence of VUS.
Patients in whom a fetal VUS is
detected should be counseled by ex-
CNVs are more likely to be pathogenic,
an abnormal fetal outcome cannot always be excluded even if a parent with
the same CNV as a fetus is normal, as
some have a variable outcome. When
interpreting VUS, it may be helpful to
evaluate the specific genes that are
contained in the deleted or duplicated
regions. In general, small duplications
are less likely to be clinically significant than are small deletions.
Q|
When should array be
offered, and what are the
indications?
The American College of Obstetricians
and Gynecologists (ACOG) and SMFM
recommend that “[A]ll pregnant women should be offered prenatal assessment for aneuploidy by screening or
diagnostic testing regardless of maternal age or other risk factors ... ” CMA
in particular is recommended when
genetic analysis is performed in cases
BECAUSE CMA LOOKS FOR GENOMIC IMBALANCE,
IT CANNOT DETECT TOTALLY BALANCED
CHROMOSOMAL REARRANGEMENTS, SUCH AS
TRANSLOCATIONS OR INVERSIONS.
perts who have access to databases
with updated information on genotype-phenotype correlations. Patients
should be educated about the significance of the finding including the potential range of outcomes, and should
be provided with resources and support. Further testing should be offered
if indicated. One of the initial steps in
the evaluation is to determine if either
parent has the same CNV as was detected in the fetus. Although de novo
of fetal structural anomalies and/or
fetal demise. CMA replaces the need
for fetal karyotype in these cases.
ACOG and SMFM recommend that
fetal karyotype or CMA be performed
when invasive prenatal diagnosis is
performed in cases with structurally
normal fetuses.
Some providers now recommend
CMA as a first-line test whenever fetal chromosomal analysis is planned,
while others reserve CMA for cases of
JULY 2016
SMFM CONSULT
fetal structural abnormalities to avoid
the possibility of discovering a VUS.
The prevalence of significant abnormalities identified by CMA in cases
with a normal karyotype and normal
ultrasound was 1/60 (1.7%) in the
study by the Eunice Kennedy Shriver
National Institute of Child Health and
Human Development. This prevalence
is high enough that providers should
discuss the benefits and limitations associated with CMA and conventional
karyotype with their patients who are
considering amniocentesis and CVS.
Chromosomal microarray analysis
should be considered as further evaluation when an apparently balanced
tive detection of low-level mosaicism,
and rule out a translocation-associated trisomy. A CMA can be performed
in the event that the FISH or karyotype
is normal. Conventional karyotype to
identify potential balanced translocations is the most appropriate first-line
test for couples with a history of recurrent miscarriage. Due to limited data,
CMA is not currently recommended as
a first-line test to evaluate first-trimester pregnancy losses.
In some situations a karyotype
should be performed following an abnormal microarray result. When trisomy of an acrocentric chromosome (13,
14, 15, 21, or 22) is identified by CMA,
PATIENTS SHOULD BE TOLD THAT CMA DOES NOT
DETECT EVERY GENETIC DISEASE OR SYNDROME,
INCLUDING AUTOSOMAL RECESSIVE DISORDERS ASSOCIATED
WITH SINGLE-GENE POINT MUTATIONS.
de novo rearrangement is detected
by karyotyping in order to exclude an
imbalance at one or both of the translocation breakpoints. CMAs may also
prove helpful in identifying the chromosomal origin and gene content of
marker or ring chromosomes identified with conventional karyotype.
Q|
When is it appropriate to
perform just a karyotype?
Conventional karyotype and/or rapid
FISH testing may be more appropriate
when a common aneuploidy such as
trisomy 21, 18, 13 or monosomy X is
strongly suspected based on prenatal
ultrasound findings. In these circumstances, conventional karyotype and
FISH analysis may provide a more rapid turnaround, allow for more sensi-
JULY 2016
a karyotype should be performed to
rule out an unbalanced Robertsonian
translocation that might have been inherited. Depending on the size, either
FISH or a karyotype is sometimes recommended to rule out inherited rearrangements in some cases involving
smaller copy number gains. This information may provide accurate information regarding future recurrence risks.
Q|
How should patients be
counseled prior to CMA?
Trained genetic counselors, geneticists,
or other providers with expertise in the
complexities of interpreting CMA results should perform pre- and post-test
counseling. Providers should be familiar with the microarray platform used
by their laboratory, including the rate of
VUS. Patients should be informed that
compared with conventional karyotype, CMA will detect a potentially
pathogenic CNV in an additional 6%–
7% of cases with fetal structural abnormalities on ultrasound and in 1%–1.7%
of cases with a structurally normal fetus. Patients should also be informed of
the 1.4%–2.1% chance that a VUS will
be detected.
Pretest counseling should include
a discussion of the spectrum of disorders that can be detected with CMA,
including disorders with severe neurologic phenotypes as well as those with
more mild or adult-onset phenotypes.
Patients should also be informed that
CMA does not detect every genetic
disease or syndrome, including autosomal recessive disorders associated
with single-gene point mutations. Patients should also be informed that
CMA can detect consanguinity and
non-paternity in some cases.
Q|
What samples can be
used?
CMA may be performed on DNA obtained from amniocentesis, CVS, fetal
cord blood, and stillbirth specimens.
DNA obtained from the mesenchymal
core cells of the chorionic villi and uncultured amniocytes is preferable to
DNA from cultured cells to allow for
quicker turnaround and to avoid the
possibility of culture artifacts. Some
labs require that a maternal blood specimen be sent with the original CMA
specimen, while other labs request parental samples only when a CNV is detected, in order to distinguish between
an inherited and a de novo CNV.
Q|
Are there differences
between prenatal and
postnatal microarray?
27
SMFM CONSULT
In many prenatal cases, patients opt
to have CMA for reassurance. CMAs
are recommended as the first-tier diagnostic test for postnatal evaluation
of children with multiple congenital
anomalies, developmental delay/intellectual disability, and/or autism spectrum disorders, with clinically significant findings reported in approximately
15% of cases with normal conventional
karyotypes.
In postnatal cases, identifying a diagnosis is important to parents for
many reasons, including obtaining
resources, planning future care for the
child, and planning future pregnancies. The benefit of finding a clinically
significant abnormality with CMA may
offset the downside of finding a VUS.
In the prenatal setting, particularly in
cases with a structurally normal fetus
on ultrasound, a VUS may cause considerable stress and anxiety as parents
may consider the option of a termination. It may be difficult to interpret the
significance of a CNV prenatally due
to the limitations of fetal imaging and
limited data correlating prenatal CNV
findings with postnatal phenotypes.
To decrease the likelihood of identifying a VUS, many specialists advocate using a targeted rather than a
whole-genome approach in prenatal
cases. Targeted arrays use platforms
that primarily identify CNVs in which
clinical interpretation is non-equivocal, including trisomies, or well-documented microdeletion/duplication
syndromes. However, targeted arrays
also may result in a lower diagnostic
yield. The probe density of targeted
arrays has increased recently, and as
knowledge regarding classification of
CNVs continues to expand, the difference between whole genome arrays and targeted arrays is narrowing.
28
SUMMARY OF RECOMMENDATIONS
Recommendation
Grade
1
We recommend that CMA be offered when
genetic analysis is performed in cases with fetal
structural anomalies and/or stillbirth, and that
it replaces the need for fetal karyotype in these
cases.
1A
Strong recommendation,
high-quality evidence
2
We recommend that providers discuss the benHÀWVDQGOLPLWDWLRQVRI&0$DQGFRQYHQWLRQDO
karyotype with patients who are considering
amniocentesis and CVS, and that both options
be available to women who choose to undergo
diagnostic testing.
1B
Strong recommendation, moderate-quality
evidence
3
We recommend that trained genetic counselors,
geneticists, or other providers with expertise
in the complexities of interpreting CMA results
perform pre- and post-test counseling.
Best practice
4
We recommend that patients be informed that
CMA does not detect every genetic disease
RUV\QGURPHDQGVSHFLÀFDOO\GRHVQRWGHWHFW
single-gene point mutations, and that CMA can
detect consanguinity and non-paternity in some
cases.
Best practice
5
We recommend that patients in whom a fetal
YDULDQWRIXQFHUWDLQVLJQLÀFDQFH986LV
detected receive counseling from experts who
have access to databases that provide updated
information concerning genotype-phenotype
correlations.
Best practice
6
We recommend against the use of CMA
DVDÀUVWOLQHWHVWWRHYDOXDWHÀUVWWULPHVWHU
pregnancy losses due to limited data.
1C
Strong recommendation,
low-quality evidence
Postnatal CMA does generally have a
higher resolution than in a prenatal
setting, and therefore may identify a
CNV that was not identified prenatally
in some cases.
Q|
What about the cost
of CMA and insurance
coverage for it?
Chromosomal microarray currently
is more expensive than conventional
karyotyping but the cost is expected
to decrease with increasing volumes
and technical advances. Insurance
coverage in the United States largely
conforms to the recommendations of
the joint ACOG and SMFM Committee Opinion.
JULY 2016
NUSWAB® VAGINITIS PORTFOLIO
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1. Willett LL, Centor RM. Evaluating vaginitis. The importance of patient factors. J Gen Intern Med.
2005 Sept;20(9): 871.
2. Centers for Disease Control and Prevention. Recommendations and Reports: Sexually
transmitted diseases treatment guidelines, 2010, MMWR. 2010;59(RR-12):1-114.
3. The American College of Obstetricians and Gynecologists. Vaginitis. ACOG Practice Bulletin No.
72. Obstet Gynecol. 2006;107:1195-1206.
4. Cartwright CP, Lembke BD, Ramachandran K, et al. Development and validation of a
semiquantitative multitarget PCR assay for diagnosis of bacterial vaginosis. J Clin Microbiol.
2012;50(7):2321-2329.
5. Richter SS, Galask RP, Messer SA, Hollis RJ, Diekema DJ, Pfaller MA. Antifungal susceptibilities of
Candida species causing vulvovaginitis and epidemiology of recurrent cases. J Clin Microbiol. 2005
May; 43(5):2155-2162.
6. APTIMA® Trichomonas vaginalis Assay [package insert]. San Diego, Calif: Gen-Probe
Incorporated; 2009-2011.
7. Chapin K, Andrea S. APTIMA Trichomonas vaginalis, a transcription-mediated amplification
assay for detection of Trichomonas vaginalis in urogenital specimens. Expert Rev Mol Diagn. 2011;
11(7):679-688.
8. Nye MB, Schwebke JR, Body BA. Comparison of APTIMA Trichomonas vaginalis transcriptionmediated amplification to wet mount microscopy, culture, and polymerase chain reaction for the
diagnosis of trichomoniasis in men and women. Am J Obstet Gynecol. 2009;200:188.e1-188.e7.9.
SPECIAL REPORT
Fighting Zika
with prevention
Top mosquito repellent recommendations from dermatologists
by LISETTE HILTON AND CHRISTINE BLANK
C
ontemporary OB/GYN
asked ob/gyns and
dermatology experts
to share recommendations for insect repellents to prevent mosquito bites that
might spread the Zika virus.
With summer here and concern
growing about the spread of the
Zika virus to the United States, physicians might notice more patients
inquiring about how to safely repel mosquitoes and their diseaseinducing bites.
The Centers for Disease Control and
Prevention (CDC) is urging everyone
to take steps to prevent mosquito
bites with such things as appropriate
clothing and Environmental Protection Agency (EPA)-registered insect
repellents. The repellents, according
to the CDC, should have 1 of the following active ingredients: DEET (N,Ndiethyl-meta-toluamide); picaridin
(2-[2-hydroxyethyl]-1-piperidinecarboxylic acid 1-methylpropylester);
IR3535 (3-[N-acetyl-N-butyl]-aminoproprionic acid ethyl ester); or oil of
lemon eucalyptus (para-menthane-
30
The Environmental Protectation Agency does not recommend any
QUICK
TAKE
additional precautions for repellant use among pregnant women.
%DUULHUFORWKLQJDQGPRVTXLWRQHWVDUHDOVRXVHIXOLQWKHÀJKWDJDLQVW
insect bites.
3.8-diol). The CDC states that the EPA
does not recommend any additional
precautions for repellent use among
pregnant and nursing women.
Contemporary OB/GYN asked ob/
“In a 20% to 50% concentration, it is
effective and safe, according to the US
Agency for Toxic Substances and Disease Registry. In addition, use of long
sleeves and pants will help reduce the
SINCE IT WAS DEVELOPED IN 1957, DEET HAS BEEN
DEMONSTRATED TO BE THE BEST INSECT REPELLENT
HUMANS HAVE EVER INVENTED.
gyns and dermatology experts to share
their best patient recommendations
for insect repellents.
Since it was developed in 1957,
DEET has demonstrated that it is the
best insect repellent humans have
ever invented, says Tucson, Arizonabased dermatologist Ronald G Wheeland, MD.
incidence of mosquito bites,” Wheeland says.
Dermatologist Joel Schlessinger,
MD, president of LovelySkin.com, says
that although DEET is very important
for protection, the use of barrier clothing and nets in the home (particularly
around the bed area) are essential.
“Mosquito repellent will never be
JULY 2016
ZIKA VIRUS
TABLE 1
Recommended insect repellents
The products listed below are recommended by the experts contacted for this report,
augmented by those products rated by Consumer Reports for repelling insects,
especially mosquitoes and ticks, and those recommended by the CDC at http://www.
cdc.gov/zika/prevention.
Brand and product
Active ingredients
Avon Skin-So-Soft Bug Guard Plus
Picaridin
Picaridin, 10%
Avon Skin-So-Soft Original Bath Oil
None listed
Coleman SkinSmart
IR3535, 20%
Cutter Skinsations
DEET, 7%
HOMS Bite Blocker BioUD Mini
Trigger
2-undecanone (CAS #112-12-9), 7.75%
OFF! Deep Woods VII
DEET, 25%
OFF! FamilyCare Insect Repellent I
(Smooth and Dry)
DEET, 15%
OFF! FamilyCare Insect Repellent II
(Clean Feel)
Picaridin, 5%
Sawyer Picaridin
Picaridin, 20%
Abbreviations: CAS, Chemical Abstract Service; DEET, N,N-diethyl-meta-toluamide;
IR3535, 3-(N-acetyl-N-butyl)-aminopropionic acid ethyl ester.
Adapted from: Consumer Reports. Insect repellent ratings. Available at:
http://www.consumerreports.org/cro/health/beauty-personal-care/insect-repellent/insect-repellentratings/ratings-overview.htm. Accessed May 16, 2016.
completely effective and, for that reason, it is imperative to put other roadblocks between the mosquito and
you,” Schlessinger says. “If any of your
patients are considering going to an
infested area, they can purchase hats
with netting on them and clothing that
is long sleeved in advance. During the
night, they should sleep in beds that
have netting around them. One particularly effective tool is to spray clothing
with DEET-containing repellent. This
allows for better control of bugs and
potential Zika vectors.”
Sandy Tsao, MD, assistant profes-
JULY 2016
sor, Harvard Medical School, Boston,
Massachusetts, and a dermatologist at
the Dermatology Laser and Cosmetic
Center at Massachusetts General Hospital, Boston, says DEET is her go-to
recommendation for repelling mosquitoes. Tsao says she uses OFF! Deep
Woods, but there are other OFF! products, such as Off! FamilyCare Smooth
and Dry and Off! Skintastic FamilyCare Insect Repellent, that are less
concentrated.
“DEET is seen as one of the most effective products for repelling insects,
but the concern is that it can be neu-
SPECIAL REPORT
rotoxic,” Tsao says. She also recommends permethrin clothing treatment
that lasts for 6 washes. Using these
products, which impregnate clothing
with insect repellent, could lead to less
need for DEET and other insecticides,
she says.
“Biting insects, including mosquitoes, are most attracted to where carbon dioxide is being emitted, so your
face and ears are prime targets for a
bite,” Tsao says. “As well, insects tend
to gravitate to areas of heavy sweat.”
She recommends that patients apply
the insecticide to any areas of exposed
skin—making sure to not forget the
ankles, feet, hands, and scalp.
Medina, Ohio, dermatologist Helen
M Torok, MD, says she has trepidation
about recommending DEET, but will
talk to patients about DEET if asked
about mosquito repellents. “[If ] those
[patients] are also uncomfortable with
DEET, then I recommend the lemoneucalyptus products,” she says. Dr Torok adds that although patients may
be reluctant to use it, the FDA has approved DEET for pregnant and lactating women. Other prevention strategies she recommends are to avoid
wearing bright clothing and shiny
jewelry and being near standing water.
Is there a Zika vaccine on
the horizon?
The U.S. Department of Health and
Human Services’ Office of the Assistant Secretary for Preparedness and
Response (ASPR) plans to help bring
a vaccine for the Zika virus to market
immediately via Emergent BioSolutions Inc., which also developed the
anthrax vaccine.
Emergent BioSolutions said that it
obtained a contract with ASPR’s Biomedical Advanced Research and De-
31
SPECIAL REPORT
TABLE 2
ZIKA VIRUS
EPA recommendations concerning insect repellents
Apply repellents only to exposed skin and/or clothing (as directed on the product
label). Do not apply repellents under your clothing.
Never use repellents over cuts, wounds or irritated skin.
Do not apply to eyes or mouth, and apply sparingly around ears. When using repelOHQWVSUD\VGRQRWVSUD\GLUHFWO\RQ\RXUIDFH³VSUD\RQ\RXUKDQGVÀUVWDQGWKHQ
apply to your face.
Do not allow children to handle or spray the product. When using on children, apply
WR\RXURZQKDQGVÀUVWDQGWKHQSXWLWRQWKHFKLOG$YRLGDSSO\LQJUHSHOOHQWWRFKLOdren’s hands because children frequently put their hands in their eyes and mouths.
Use just enough repellent to cover exposed skin and/or clothing. Heavy application
does not give you better or longer lasting protection.
After returning indoors, wash treated skin with soap and water or bathe. This is particularly important when repellents are used repeatedly in a day or on consecutive days.
If you (or your child) get a rash or other reaction from a repellent, stop using the
repellent, wash the repellent off with mild soap and water, and call a local poison
control center for further guidance. If you go to a doctor, it might be helpful to take
the repellent with you.
velopment Authority (BARDA) to develop and manufacture three cGMP
lots of a Zika vaccine for use in a phase
1 clinical trial is valued at up to $21.9
million.
“The threat posed by Zika presents
an urgent need for vaccines and diagnostics,” said Richard Hatchett, MD,
acting BARDA director. “To meet that
need as quickly as possible, we need to
leverage the infrastructure, experience
and expertise available within BARDA,
other federal agencies, industry and
academia.”
The first US test for the Zika virus
became available in early May after
Quest Diagnostics received an Emergency Use Authorization (EUA) for its
Zika Virus RNA Qualitative Real-Time
RT-PCR test (Zika RT-PCR test).
Until then, the only Zika tests authorized by FDA were available from the
Centers for Disease Control and Pre-
32
vention (CDC), and were only used in
qualified laboratories designated by
the CDC.
Emergent Biosolutions will conduct
a variety of studies via BARDA’s Center
for Innovation in Advanced Development and Manufacturing (CIADM) in
Baltimore, to move quickly through
early stages of vaccine development
and submit an investigational new
drug request to FDA to begin clinical
studies. To further speed development
time, Emergent will use vaccine technology similar to that used in vaccines
being developed to protect against
similar viruses, such as Dengue.
Over the next 30 months, BARDA
will provide more than $17.9 million
to Emergent with the potential for additional work, totaling approximately
$21.9 million.
However, at any stage in development, BARDA could transfer the technology to other vaccine manufacturers
to utilize the technology to produce
and market the Zika vaccine, HHS said.
In addition to this vaccine development, BARDA is sponsoring development of pathogen reduction technologies to reduce the risk from Zika in
the blood supply. BARDA also is using
its clinical studies network to collect
blood samples needed to speed development of diagnostic tests.
BARDA is seeking additional proposals for products that could be used
to prevent or detect Zika or other illnesses and injuries associated with
public health emergencies. The U.S.
Department of Health and Human
Services’ Office of the Assistant Secretary for Preparedness and Response
(ASPR) plans to help bring a vaccine
for the Zika virus to market immediately via Emergent BioSolutions Inc.,
which also developed the anthrax vaccine. FOR YOUR PATIENTS
From Editor-in-Chief Charles J Lockwood, MD, MHCM: This advice
could not be more timely given the imminent threat of Zika-bearing mosquitos
appearing in the continental US and their rapid spread across the US
Commonwealth of Puerto Rico. For the latest Zika news, including information
on where the newest cases have been identified, visit the Contemporary OB/GYN
homepage at www. contemporaryobgyn.net.
JULY 2016
efficiently using hexosaminadase A
enzyme analysis for low carrier frequency groups (non-Ashkenazi). Because of racial/ethnic mixing, it may
be best to include this as part of any
screening approach.
Implementation of carrier
screening
Carrier screening can be performed
before conception or antenatally, and
sequentially (maternal then paternal)
or simultaneously Most patients are
not screened in the preconception
period. In many cases, this is because
of issues with insurance and public
healthcare coverage for genetic testing rather than lack of awareness on
the part of patients or their physicians.
Patients need education around these
problems, and as a result, the window
of time for consent and pretest counseling often is so short that maternal
and paternal carrier screening have to
be done simultaneously.
Documenting the information provided during pretest counseling is important. Key concepts include:8
r"MMHFOFUJDTDSFFOJOHBOEUFTUJOHJT
voluntary and confidential.
r"DDVSBUFGFUBMSJTLBTTFTTNFOUSFquires screening of the biologic father.
r5FTUJOH QPTJUJWF GPS BU MFBTU POF
condition is common.
r1BUJFOUT NBZ MFBSO BCPVU IFBMUI
risks important to them and to family
members.
r$POEJUJPOTTDSFFOFEGPSSBOHFJO
spectrum of severity—some are mild
and others are quite severe.
r" OFHBUJWF UFTU SFTVMU EPFT OPU
eliminate the possibility of being a carrier (residual risk)
r3FQFBU TDSFFOJOH JO TVCTFRVFOU
pregnancies is not necessary.
JULY 2016
PEER-REVIEWED
r"QMBOUPQSPWJEFBDDVSBUFJOGPSmation is needed in cases of a positive
test result.
of conditions, treatment options, and
available support groups. Rely on legitimate resources (not blogs).
Follow-up
Fetal Testing:
r'FUBMUFTUJOHDBOCFQFSGPSNFEVTing amniocentesis or chorionic villus
sampling.
r-BCPSBUPSJFT UIBU QFSGPSN
ECS generally do not handle fetal
specimens.
r*EFOUJGZBSFTPVSDFMBCGPSUFTUJOH
fetal specimens.
r3FDPHOJ[FUIBUGBNJMJFTűXJMMJOEJvidualize their use of genetic screening and testing information.
The follow-up required after implementing carrier screening depends on
several factors: The nature of the condition screened (recessive, semi-dominant or X-linked), test result (positive
or negative), spectrum of the condition, and literacy level of the patient.
Follow-up respects the patients’ need
to react, respond, and adjust to their
results. Having a plan consistent with
the provider’s office infrastructure is
important (eg, is a geneticist on site,
who calls results to patients). These
tips may be helpful.
Staff:
Designate 2 people in the office to assist in tracking genetic screening reports. This allows uninterrupted review of results when employees are
on vacation.
Be sure to train staff on the voluntary nature and confidentiality of genetic testing.
To ensure privacy, request that
ECS reports for each partner are distinctly separate.
Establish a tracking system for reports with different names.
Genetic Counseling:
When one member of a couple tests
positive, sequencing the partner’s
gene is not recommended. Instead
the partner should also be screened.8
Establish a relationship with a professional trained in genetics and genetic
counseling. Other family members
who might benefit from test results
should be considered. Be prepared to
discuss specific conditions, spectrum
Summary
Professional organizations have not
stated whether all patients should be
made aware of ECS. However, this
method of screening is increasingly
being covered by private insurance
as well as state and federal healthcare programs. ECS can be offered to
patients without fear as long as basic
principles used in everyday ob/gyn
practice are adopted to allay anxiety.
As the entirety of medicine adopts
molecular-based diagnostics and
therapeutics, clinicians have a duty to
stay current on the implementation of
these into clinical practice.
Genetics is not an arcane discipline
practiced only by certified geneticists.
Genetics should be viewed in the same
way as ultrasound, which is now a part
of most medical disciplines. Proactive
learning can fend off efforts to mandate certification as these technologies become a routine part of state-ofthe-art obstetric care. FOR REFERENCES VISIT
contemporaryobgyn.net/expanded-carrierscreening
33
TOOLS TEST DRIVE
by JAMES GREENBERG, MD
Electro Lube
This anti-stick solution for electrosurgery is designed to keep instruments clean.
COMPANY Eagle Surgical Products (Austin, TX)
WEBSITE www.electrolubesurgical.com
LIST PRICE $500 (per box of 20)
OVERALL SCORE
DESIGN/FUNCTIONALITY
INNOVATION
Background
worked exactly as expected. In my
parlance, it was just like good sports
referees: If you don’t notice them,
they are doing their job. In our operating room (OR), the Storz RoBi
bipolar Maryland forceps is our go-to
Core surgical rule: hemorrhage bad;
hemostasis good. With that insightful gem out of the way, let’s turn our
focus to electrosurgery, in which
electrical current is employed to
coagulate bleeding blood vessels by
denaturing blood and blood vessel proteins. While that technique is
generally effective, the process often
results in unwanted sticking and char
build-up on the coagulating device.
Because both of those effects are
detrimental to achieving hemostasis,
preventing them is important. Electro
Lube is that prevention in a bottle.
I HAVE YET TO NEED TO
CLEAN AN INSTRUMENT
DURING A CASE
Design/Functionality
Approved by the US Food and Drug
Administration in 2004, Electro Lube
is typically recognized by surgeons
as “that yellow goop” that is applied
to Da Vinci monopolar scissors to
minimize the risk of current arcing.
While it is helpful for minimizing
arcing, its real modus operandi is
preventing sticking and char buildup
during electrosurgery. Derived
from soybean oil, it is a lecithin-
34
based phospholipid mixture that is
non-synthetic, non-flammable, and
non-allergenic. It comes in a sterile
single-use 8-cc plastic vial and is applied to the tip of any electrosurgical
instrument prior to the instrument’s
use.
In clinical use, Electro Lube
coagulation workhorse. With Electro
Lube applied, I have yet to need to
clean an instrument during a case or
to experience sticking to tissues. DESIGN/FUNCTIONALITY SCORE:
Innovation
Instrument sticking and char buildup is definitely a real problem in certain coagulation-heavy procedures.
JULY 2016
PHOTO COURTESY OF EAGLE SURGICAL PRODUCTS
OR TO EXPERIENCE
STICKING TO TISSUES. TOOLS TEST DRIVE
WiCAM Wireless Digital
Endoscope Camera & LED
Light Source
COMPANY The Prometheus Group (Dover, NH)
WEBSITE www.theprogrp.com
DESIGN/FUNCTIONALITY
Background
Through the generosity of the Greek
deity Prometheus, man was introduced to fire. Let there be no doubt,
fire was a major enabling technology
in humankind’s evolution and ranks
only below the iPhone as the most
significant advance since we arose
from primordial muck. Given this
legacy, it should be of little surprise
that once again, Prometheus is trying
to change mankind; only this time,
instead of fire, we are getting an untethered endoscopic camera and light
source.
LIST PRICE $3,200 (including tablet PC)
OVERALL SCORE
INNOVATION
a monitor, laptop, or tablet and a
rechargeable battery screws a lightweight LED light source directly onto
any standard light port.
In use for an office hysteroscopy,
the Prometheus wireless digital endoscope camera and LED light source
was pretty “wow.” When stationary,
the picture was excellent with full
640 x 480 resolution and the light was
comparable to what I am used to.
There were only 2 buts. But #1: During rapid movement of the camera
there were occasions when the image deteriorated as the transmission
speed lagged behind the image. This
problem is minimized by keeping
the camera and tablet at high power
and selecting another channel on the
PHOTO COURTESY OF THE PROMETHEUS GROUP
Design/Functionality
The WiCAM Wireless Digital Endoscope Camera and LED Light Source
has multiple components that integrate to make any standard endoscope (cystoscope, hysteroscope,
laparoscope, etc.) cordless. The camera is a standard-sized, lightweight
(.35 lb, 158 g) device with a standard
c-coupler that fits onto any standard
eyepiece. Real-time images are wirelessly transmitted from the camera
head to a USB receiver plugged into
JULY 2016
35
THE DIGITAL OB/GYN
by BRIAN A LEVINE, MD, MS, FACOG
The big healthcare
disappointment of 2016
+HDOWKDSSVDUHLQWHUHVWLQJEXWWKH\ZRQ·WEHWUXO\XVHIXOXQWLOWKH\ÁRZGDWDLQWRSDWLHQWV·(+5V
T
yping the word “wearable” into Amazon
returns information
on more than 600,000
products, ranging from
activity trackers, to fitness trackers, to
smart clips, to arm- and wristbands,
to smart watches. FitBit, Jawbone,
Misfit, Garmin, and Apple Watch are
just a few of the names associated
with these devices. Regardless of
the manufacturer or the form, all of
these devices have the same general
idea; they passively monitor daily
activity and the data aggregated are
streamed via a hardwire connection
or Bluetooth and accessed through
a mobile application or web-based
portal. Since the advent of wearable
devices, the products have gotten significantly smaller and lighter and are
jam-packed with (sometimes) highly
accurate sensors.
The missing capability
As these devices have increased
in popularity, discussions about
prescribing exercise have become
much easier. But one capability is still
missing: collection, compilation, and
streaming of data in a meaningful
way directly into a patient’s electronic health record (EHR). While I
love seeing a device on my patient’s
36
wrist, I am often at a loss when she
is unable to tell me about her data. I
have found that patients like knowing
that they have walked 10,000 steps in
a day, but they rarely can tell me (or
I THINK THERE IS
SOMETHING AWKWARD
ABOUT ASKING A PATIENT
TO SEND ME A
SCREENSHOT OF HER
DATA.
mine as her doctor?
Apple took a huge step forward by
creating the Health app, which is an
easy-to-read dashboard of health and
fitness data. It can integrate data from
multiple sources (ie, wearables and
nutrition tracking apps), and display
the information concisely in one
place. As a physician, though, I think
there is something awkward about
asking a patient to send me a screenshot of her data. In 2016, it’s realistic
to expect that the data should not just
flow into a patient’s Health app but
also into her own EHR. Unfortunately, that is still not the case.
What’s the holdup?
show me) their daily step count or
their daily weight. Did their weight go
down when they increased their steps
the preceding month? Some patients
use dietary tracking apps such as
MyFitnessPal, and I often ask patients
about the effects of dietary modifications on their wellness (weight, sleep,
energy level, etc). Few can answer.
While patients can often show me
that they are consuming only 1750
kcals a day, they often can’t show me
how that affects their wellbeing. But
is it the patient’s job to do that, or
Third-party vendors have made great
strides in helping data “flow” from
a patient’s device to her permanent
record, but big-box EHR manufacturers have not made that a priority
because the data are hard to map.
Until all health data are standardized
on phones and sent the same way
from each device, it is almost impossible for an EHR to use that information because the system has no idea
where to put the data.
Furthermore, as more EHRs offer
portals that allow patients the ability
to view their records, it seems almost
archaic that the data cannot just flow
JULY 2016
THE DIGITAL OB/GYN
back to the patient’s phone so that
it can all be consolidated into one
place. Patients are going online to
look at their most recent cholesterol
levels but logging their daily exercise
and nutrition in an app that cannot
integrate that data.
And, as more providers and
patients look to consolidate this information, and attempt to “log” this
data, either in the EHR or on a phone,
we are going to have more data entry
the publicly funded healthcare system in England, has launched an
initiative to link devices and apps
with improvements in certain public
health disorders (ie, diabetes, heart
disease, asthma, sleep disorders,
chronic health conditions, obesity,
etc). One software manufacturer,
Medelinked, is providing their service
free to NHS patients, doctors, and
healthcare professionals in the hope
of closing the aforementioned gap.
THIRD-PARTY VENDORS HAVE MADE GREAT STRIDES
IN HELPING DATA ‘FLOW’ FROM A PATIENT’S DEVICE TO
HER PERMANENT RECORD.
errors because we are all manually
entering disconnected information.
For example, if a patient types in a
cholesterol level of 33 instead of 330,
she may falsely believe that she has
a low average serum cholesterol and
not watch her food intake.
The NHS initiative
The National Health Service (NHS),
For example, patients and providers can share data on blood glucose
and cholesterol levels, calorie intake,
weight, waist size, exercise level,
blood pressure, as well as comments
on symptoms and wellness. The
bidirectional tool allows patients to
send data to their health providers
and caretakers to send data to their
patients. It is one of the first such
tools to allow patients access to and
ownership of their health data.
Moving beyond a fashion
statement
As someone who embraces technology, and at times, even tries to force
its use in healthcare, the inability to
stream and flow patient-derived data
is my big healthcare disappointment
of 2016.
Everyone is collecting data. In
fact, most people don’t know that
the iPhone has a built-in pedometer;
so even when you are just walking
with your phone, it is tracking you.
However, at the halfway point of 2016,
I am still unable to access these data,
and as such, I feel that wearables are
as much fashion statements for the
nondominant hand as they are quasihealthcare tools. Dr Levine
is Practice Director, CCRM New
York, and Attending Physician, Lenox Hill
+RSVLWDO1HZ<RUN+HKDVQRFRQÁLFWVRI
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this article.
ABOUT OUR EDITORIAL PROCESS
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INVITATION
editorial board. These papers are then subject to peer review by experts to ensure that the
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JULY 2016
PUBLICATION
37
TOOLS TEST DRIVE
Electro Lube
When there is active bleeding, you
really want a fully functional coagulation instrument and Electro Lube is
the “grease that helps the wheel turn.”
In addition, less char build-up means
less scraping and less scraping means
less damage to expensive, delicate
surgical instruments. Given all these
pluses, I think this soybean oil by-
product is pretty clever.
INNOVATION SCALE:
Summary
I don’t think that a bottle of Electro
Lube needs to be opened for every
OR case but I do think every OR
needs to stock it. In this day and age,
surgery—particularly minimally inva-
sive surgery—is too refined to allow
something as common as char buildup to reduce an instrument’s functionality when something as simple
as Electro Lube is readily available.
OVERALL SCORE:
WiCAM Wireless Digital Endoscope Camera & LED Light Source
camera and receiver if there is interference but it is still a little annoying.
But #2: The company is a little vague
about the cleaning and sterilization
protocols for the devices. The com-
light cords will go the way of wooden
teeth, iron lungs, and written medical
records.
INNOVATION SCALE:
I AM CONVINCED THIS IS THE FUTURE OF OFFICE
ENDOSCOPY AND PERHAPS O.R. ENDOSCOPY
AS WELL.
same otherworldly feel. The device
does present some challenges. It has
some digital lagging issues when it is
moved too quickly and the company
definitely needs to clarify its cleaning and sterilization procedures. But
overall, I am convinced this is the future of office endoscopy and perhaps
OR endoscopy as well.
OVERALL SCORE:
The views of the author are personal
pany says they intend to remedy this
issue with proprietary sterile drapes
or bags but, as of this writing, they are
not available.
DESIGN/FUNCTIONALITY SCORE:
Innovation
Game changer alert! This wireless
product may be the first of its kind
that you use but it will not be the
last. Rather, I suspect within short
order most of our wired cameras and
38
Summary
The Prometheus wireless digital endoscope camera and LED light source
is super cool. After years of using
scopes with camera heads connected
to cameras via wires and illuminated
by light transmitted through fiberoptic cords, the fully wireless Prometheus almost defies belief.
For those of us old enough to
remember our first mobile phone
experience, this camera has that
opinions and do not necessarily represent
the views of Contemporary Ob/Gyn.
Dr Greenberg personally tests all the
SURGXFWVKHUHYLHZV+HKDVQRFRQÁLFWV
of interest with these products or the
companies that produce them.
JULY 2016
OB/GYN VERDICTS AND SETTLEMENTS
LEGALLY SPEAKING
Bowel perforation
during fibroid
surgery
A 44-year-old Illinois woman visited a
gynecologist in 2010 with a complaint
of uterine fibroids. During a hysteroscopic procedure, the woman’s
uterine wall and colon were inadvertently perforated. The gynecologist
then converted to a laparoscopy and
upon finding the perforation in the
uterine wall, performed a laparotomy
to repair the tear. When the patient
became severely ill with peritonitis
3 days later, a surgeon performed a
bowel resection with colostomy. A
second operation to reverse the colostomy was performed a year later.
The woman sued the gynecologist,
alleging negligence in perforating the
uterus and bowel and failing to recognize and repair the bowel perforation
in a timely manner, which caused her
to have abdominal scarring.
The physician argued that he did
look at the adjacent organs while
repairing the uterus and either
there was no hole at that time or it
was too small for him to detect any
perforation.
THE VERDICT The patient was
awarded $200,000 in damages.
Preterm delivery
results in CP
A Michigan woman with a history of
cesarean delivery at 24 weeks’ gesta-
JULY 2016
tion was offered synthetic progesterone injections at the beginning
of her prenatal care in a subsequent
pregnancy. She claimed she could
not afford the injections. Three weeks
after her initial visit, she returned to
the high-risk clinic and was again
offered the progesterone injections,
which she rejected.
During her return visit, 4 weeks
later, her cervical length on ultrasound was 3 cm. She again declined
the progesterone. At a follow-up visit
2 weeks later, the woman’s cervical
measurement was 2.5 cm and she
once again did not consent to progesterone injections.
Another ultrasound performed 2
weeks later showed a cervical length
of 1 cm. The woman was admitted
to the hospital but before any orders
could be written for tests to rule out
early labor and/or delivery, she left
the hospital to care for her other children. She was to return after arranging care for them, but did not come
back.
Five days later the woman’s cervical length was 1 cm and she received
a progesterone injection. Over the
next 4 weeks, she had 4 more injections but she did not return for the
fifth or for cervical measurement.
The day after the woman’s missed
appointment, she presented to the
hospital with cramping. She was
admitted and given steroids and
medication to stop the contractions.
An ultrasound showed that the fetus
was breech. The patient consented
to a cesarean, but before the procedure was started, the baby was born
vaginally. The child suffers from
mild brain damage, cerebral palsy,
developmental delays, and learning
disabilities.
The woman sued those involved
with her care during the pregnancy
and alleged that the healthcare providers should have offered her vaginal
progesterone, which was less expensive than the injections, that steroids
should have been given to her earlier
to improve neonatal development,
and that vaginal delivery should have
been prevented.
The defense argued that the infant
delivered precipitously on the way to
the operating room.
THE VERDICT The case was settled for
$3.5 million.
Depression from
uterine wall
perforation
A 48-year-old Arizona woman was
seen by her primary care physician,
who performed a Pap test that came
back with abnormal results. She
was referred to a gynecologist, who
recommended a colposcopy, which
revealed abnormal cells in the cervix
and severe dysplasia.
The gynecologist recommended
surgery, which was scheduled for a
month later. During the procedure
the woman’s cervix was removed
and her uterus was punctured and
repaired. She claimed she suffers depression as a result.
The woman sued the gynecologist
and alleged that despite the doc-
39
LEGALLY SPEAKING
tor’s assertion that the operation was
needed immediately, no one from her
office contacted the patient, and the
patient herself contacted the office to
schedule the surgery and it was not
performed for over a month after the
recommendation.
The gynecologist argued that there
was no departure from the standard
of care, uterine perforation is a known
complication and was managed appropriately, and that 9 weeks after the
operation the patient returned to work
and had no complaints for more than
a year afterward.
THE VERDICT A defense verdict was
returned.
Circumcision
requires revision
procedure
A Michigan woman alleged that
her son suffered pain as a result of
a circumcision that was performed
the day after his birth. She sued the
obstetrician and claimed that the
circumcision was improperly performed, necessitating a revision operation 2 1/2 years later that resulted in
the development of meatal stenosis at
age 7 years. She alleged that once her
son was able to talk, he indicated that
his penis hurt.
She first complained to the physician about the pain when the child
was 18 months old. She reported that
the baby suffered constant penile
pain from the time of circumcision at
age 1 day until the revision surgery 2
1/2 years later.
The obstetrician denied any deviations from the standard of care and
40
contended that redundant foreskin is
often left following a circumcision.
THE VERDICT The jury found in favor
of the defense.
Brachial plexus
injury
In 2005, an Illinois woman with elevated blood pressure was admitted to
a hospital for induction of labor at 38
weeks’ gestation. She was started on
oxytocin and around midnight, the
fetal heart rate monitor showed some
possible fetal complications. The
obstetrician was not in the hospital
but was called and ordered preparations for a cesarean delivery. Once he
arrived at the hospital and evaluated
the patient, he found no fetal concern
and decided to proceed with the plan
for vaginal delivery.
By 3:30 am the patient was fully
dilated and pushing when the obstetrician decided to utilize a vacuum
extractor to assist with the delivery
due to the patient’s elevated blood
pressure, headache, shortness of
breath, and fatigue. Upon delivery
of the head, a shoulder dystocia was
encountered and the physician immediately called for assistance. He
attempted various maneuvers to
deliver the shoulder and successfully
delivered the infant.
The child was subsequently diagnosed with near-total brachial plexus
injury, consisting of tears and avulsions of all 5 brachial plexus nerves
with trauma to some of the cervical nerve roots, requiring multiple
operations for nerve grafts and other
orthopedic procedures.
In the lawsuit that followed the
delivery, the patient claimed that use
of the vacuum was not indicated. She
alleged that she actually had an arrest
of descent which required that the
obstetrician perform a cesarean, and
that he should have suspected fetal
macrosomia. She further claimed that,
based on the severity of the injury, the
obstetrician must have used excessive
force to complete the delivery.
The obstetrician denied that the
standard of care required a cesarean
at the time he applied the vacuum,
denied that the vacuum caused the
shoulder dystocia, and denied he
applied excessive force or traction to
accomplish delivery. He contended
that the extent of the outcome was
partially due to hypotonia, which
contributed to the unusual distribution of damage to the infant.
THE VERDICT The jury rendered a
defense verdict.
Pregnancy after
tubal ligation
A Maryland couple expressed their
decision to not have another child to
a gynecologist, who recommended a
laparoscopic tubal ligation. Several
months later the woman became
pregnant and gave birth to a son. The
parents are now raising 4 children,
the youngest of whom has language
delays and learning disabilities.
The parents sued the physician and
claimed that this additional child put
an increased economic hardship on
the family.
The gynecologist contended that
a common known complication of
JULY 2016
the procedure can be the regrowth
and reattachment of the Fallopian
tubes, resulting in an unintended
pregnancy.
THE VERDICT The jury found in favor
of the parents and awarded $240,000
for the cost of raising a fourth child,
and $157,000 to cope with the child’s
special needs, for a total of $397,000.
Amputation after
bowel perforation
A 46-year-old woman went to a Florida hospital for removal of an ovarian
cyst. The procedure was performed
by her gynecologist. Afterward, the
patient experienced pain and low
blood pressure, which was treated
with medication. The next day the
incision opened and serosanguinous
fluid began to drain. The patient was
transferred to the intensive care unit
with acute respiratory failure with
possible sepsis and organ failure.
The next day a trauma surgeon ordered emergency abdominal surgery
and discovered a bowel transection.
The lower half of the patient’s stomach and abdominal muscles were
removed due to necrotizing fasciitis.
She suffered severe organ, tissue,
and muscle damage, and severe
hypotension with severely low blood
flow to her extremities, resulting in
amputation of all 4 extremities. She
LEGALLY SPEAKING
had 11 additional operations, including placement of on ostomy bag, and
was in an induced coma for 1 month.
The woman sued the physician and
claimed he was negligent in deciding to perform the original surgery
laparoscopically despite the risks,
transecting her bowel during the procedure, and failing to order emergency surgery in a more timely manner
based on her symptoms.
The physician denied any negligence in performing the operation
and claimed that the bowel perforation was a known complication of the
procedure.
THE VERDICT A defense verdict was
returned.
SUBMIT YOUR PUZZLER!
Have a puzzling ob or gyn case that
you’d like to share with fellow readers?
We’re looking for stories about intriguing
diagnoses that have stumped the experts!
For submission guidelines, please contact
Content Channel Director Susan C. Olmstead
at [email protected].
JULY 2016
Expert Advice for Today’s Ob/Gyn
41
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JULY 2016
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CAREERS
CALIFORNIA
OBSTETRICS/GYNECOLOGY PHYSICIAN
Olive View-UCLA Medical Center, a Los Angeles County facility and
major teaching hospital for the David Geffen School of Medicine
at UCLA, is recruiting a full-time BC/BE general obstetrician/
gynecologist.
We are seeking individuals who will contribute to an academic,
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as the teaching of medical students. Opportunities in clinical and
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includes an academic appointment at the David Geffen School
of Medicine at UCLA. Competitive salary and benefits provided.
Applicants at the level of Assistant or Associate Professor will be
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for licensure in California. EOE
Please submit letter of intent, CV, and three references to:
Dr. Christine Holschneider
Chair, Department of Obstetrics and Gynecology
Olive View- UCLA Medical Center
14445 Olive View Drive, 6D-116
Sylmar, CA, 91342
Fax: (818) 364-3255
Email: [email protected]
MASSACHUSETTS
A well-established, full-scope community Ob/Gyn practice is seeking a
full-time BC/BE physician to join their busy and growing practice.
This practice includes MD’s, CNM’s and NP’s with a large experienced
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ZHHN&0(DQGDGD\ZRUNZHHN
Enjoy everything that New England has to offer with this beautiful and
FRQYHQLHQWORFDWLRQOHVVWKDQPLQXWHVIURP%RVWRQ7KLVSLFWXUHVTXH
community is home to some of the best schools in Massachusetts and
provides endless opportunities for cultural, recreational and historical
activities.
Please email [email protected]
JULY 2016
Narrow your candidate search to the best.
Place a recruitment ad in Contemporary OB/GYN.
Joanna Shippoli
National Account Manager, Healthcare Careers
(440) 891-4569 | [email protected]
43
CAREERS
ILLINOIS
VIRGINIA
:-6+-2-%
-RHITIRHIRX3&+=2TVEGXMGISJ1(´WERH;,24´WMWWIIOMRKER3&+=2
TL]WMGMERXSTVEGXMGIMRXLI8MHI[EXIVEVIEQMRYXIWJVSQXLIFIEGL'EPP
'SQTIXMXMZIWEPEV]ERHFIRI½XW%FMPMX]XSWTIEO7TERMWLETPYW
OSF Saint Francis Medical Center – Peoria, IL Opportunity
for a Physician to join our OB/GYN Hospitalist team slated to
begin at OSF Saint Francis Medical Center in Peoria, IL. The ideal
candidate will be board-certified in OB/GYN (MD or DO),
be able to demonstrate clinical excellence with superior
communication skills, and have a focus on providing quality care
placing the patient above all other considerations. Qualifications
also include active and current skills in the full breadth of the OB/
GYN specialty, a current Illinois license to practice or near the end
of the licensure process. Other requirements include a willingness
to drive patient safety and quality initiatives as required by the
TeamHealth Patient Safety Organization, insurability for malpractice
insurance, at least 2 years of active practice, and a successful
track record. TeamHealth offers competitive compensation plus
paid professional liability insurance with tail coverage.
To learn more about these or other Hospital Medicine
opportunities, contact Jonathan Goldsmith at
954.377.3081 or [email protected],
or visit www.teamhealth.com.
4PIEWIIQEMP':XSKF$KVIIRFVMIVSFLVGS\QEMPGSQ
Reach your
target audience.
Our audience.
Contact me today
to place your ad.
Joanna Shippoli
Account Manager
440-891-2615
[email protected]
UTAH
Intermountain is frequently referenced nationally as one of
the leaders in delivering high quality/low cost healthcare.
Intermountain Healthcare needs OB/GYN’s in multiple cities throughout
Utah. Contact: Physician Recruiting, 800-888-3134, [email protected],
http://physicianjobsutah.org
ADVERTISER INDEX
Repeating an ad ENSURES
it will be seen and remembered!
Companies featured in this issue
To obtain additional information about products and services advertised in this issue, use the contact information below.
This index is provided as an additional service. The publisher does not assume any liability for errors or omissions.
BAYER HEALTHCARE
MIRAFIBER .................................. CV2
NUSWAB ........................................ 29
www.labcorp.com
ZZZGDLO\PLUDÀEHUFRP
ROCHE DIAGNOSTICS CORP
HARMONY PRENATAL TEST ........ 15
www.harmonytestusa.com
LUMENIS
FEMTOUCH ...................................... 9
INTERNET BRANDS
www.lumenis.com
SEQUENOM
OFFICITE ........................................ 19
MATERNIT 21 PLUS.................... CV4
ZZZRIÀFLWHFRP
www.sequenom.com/new
QIAGEN SCIENCES
AMNISURE ....................................... 3
www.qiagen.com
LABCORP
SINGLE-SOURCE SOLUTION ......... 5
www.labcorp.com
44
JULY 2016
LEGALLY SPEAKING
by DAWN COLLINS, JD
Claim of failure to test for
cystic fibrosis
Case illustrates the importance of documenting each patient visit.
A
44-year-old Montana
woman gave birth to a
child who was subsequently diagnosed with
cystic fibrosis (CF). The
woman sued those involved with her
prenatal care, including the certified
nurse practitioner (CNP) and the physician who performed chorionic villus
sampling (CVS), claiming that had she
known the child had CF, she would
have terminated the pregnancy.
The woman alleged that she asked
for genetic testing, including testing
for CF, when she had her prenatal visit
with the CNP.
The nurse argued that the patient
requested testing for concerns related
to advanced maternal age and not CF,
but that the patient was provided with
brochures that included information
about testing for CF. The brochure was
clear that the initial screening for CF
was a blood test of the parents to determine if they were carriers of the CF
gene, and that if the results from both
were positive, the material gathered
from amniocentesis or CVS would be
tested.
The nurse alleged that the patient
did not request the necessary blood
tests for CF carrier screening or any CF
testing. The patient admitted that she
did not read the brochure on CF testing
that was provided to her.
The patient contended that the physician did not tell her what the material obtained from the CVS procedure
would be tested for and that she did
not have genetic counseling.
The physician argued that he informed the patient that the test was for
conditions related to advanced maternal age, such as chromosomal abnormalities including Down syndrome. He
further contended that he specifically
informed the patient of the availability
of blood testing for CF carrier screening of both parents, which is necessary
prior to testing for CF in the fetus because of the more than 1000 mutations
of CF.
He claimed that the patient declined
the CF blood tests at that time.
ANALYSIS
During this case, it was revealed
that while the patient admitted that
she was referred to the medical
genetics department for genetic
counseling, she claimed she was
confused as to whether she was
to contact them or they were to
contact her and as a result, she
did not call for an appointment
until shortly before the scheduled
procedure. She then claimed
she was told there were no
counselors available on such
short notice right before a holiday.
During trial, witnesses for the
JHQHWLFVGHSDUWPHQWWHVWLÀHGWKDW
counselors were available when
the patient called. They provided
documentation in the medical
record that the patient declined
genetic counseling due to the cost
of the service. This illustrates the
importance of documenting in the
record a patient’s decision to not
undergo a recommended service
and her reasons for declining.
VERDICT
A defense verdict was
returned.
FOR MORE LEGALLY SPEAKING CASES
TURN TO PAGE 39
Ms Collins is an attorney specializing in medical malpractice in Long Beach, California. She can be reached at [email protected].
JULY 2016
45
21 PLUS
Meet the new Sequenom Laboratories.
MaterniT® 21 PLUS—the
pioneering NIPT—now
available for any pregnancy
We’ve run the numbers:
70% of patients pay $0 out
of pocket*
Our new online cost calculator
delivers patient out-of-pocket
cost estimates in seconds
Genetic counseling, mobile
phlebotomy, dedicated patient
support, and much more
www.sequenom.com/new
* Based on internal company data for MaterniT® 21 PLUS tests billed to insurance from January–November, 2015.
Excludes rare instances where health plans reimbursed patients directly. This is not a guarantee of coverage for future
tests ordered. Patients are encouraged to call Sequenom Laboratories directly to obtain a more accurate estimate of
out-of-pocket costs.
© 2016 Sequenom, Inc. All rights reserved. The MaterniT 21 PLUS test is a laboratory-developed test that was developed
and is performed exclusively by Sequenom Laboratories. SEQUENOM®, MaterniT®, and Sequenom Laboratories™ are
trademarks of Sequenom, Inc. All other trademarks are the property of their respective owners.

Digital Edition - Contemporary OB/GYN

Transcription

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