Prenatal Genetic Testing: Content of Discussions
Between Obstetric Providers and Pregnant
Women
BARBARA A. BERNHARDT, MS, GAIL GELLER, ScD, TERESA DOKSUM, MPH,
SUSAN M. LARSON, MS, DEBRA ROTER, DrPH, AND NEIL A. HOLTZMAN, MD, MPH
Objective: To document the content and accuracy of discus-
sions about prenatal genetic testing between obstetric pro-
viders and pregnant women.
Methods: The first prenatal visits of 169 pregnant women
with 21 obstetricians and 19 certified nurse-midwives were
audiotaped and analyzed for whether a discussion of family
history or genetic testing took place and if so, its length,
content, and accuracy.
Results: Family history was discussed in 60% of visits,
maternal serum marker screening in 60%, second-trimester
ultrasonography for fetal anomalies in 34%, and for women
at least35 yearsold, amniocentesis orchorionicvillus
sampling (CVS) in 98%. The length of discussions of genetic
testing averaged 2.5 minutes for women younger than 35
yearsof age and 6.9 minutes for olderwomen.Topics
discussed most often were the practical details of testing, the
purpose of testing, and the facthattesting is voluntary.
Discussionsseldom werecomprehensive. Obstetricians
were more likely to make a recommendation about testing
than were nurse-midwives and were less likely to indicate
that testing is voluntary. Most women were satisfied with
the amount of information, and the majority of women of
advanced maternal age had made a decision about amnio-
centesis or CVS by the end of the visit.
Conclusion: The information about genetic testing pro-
vided in the first prenatal visit is inadequate for ensuring
informed autonomous decision-making. Guidelinesad-
dressing the content of these discussions should be devel-
oped with input from obstetricians, nurse-midwives, genetic
counselors, and pregnant women. (Obstet Gynecol 1998;91:
648 –55.© 1998 by The American College of Obstetricians
and Gynecologists.)
Guidelines for the content of prenatal care developed
by the Public Health Service Expert Panelemphasize
the importance of risk assessment and education early
in pregnancy,
1
specifying thatthe firstprenatalvisit
should include a detailed medical and obstetric history,
as well as health promotion activities including educa-
tion aboutprenatalcare.However,little guidance is
provided about patient education about genetic testing,
an aspect of prenatal care that is becoming increasingly
importantas the number ofdisorders diagnosable in
utero continues to increase.
2,3
The advent of noninva-
sive screening, such as maternal serum marker screen-
ing,followed by a confirmatory invasive procedure, is
making prenatal genetic testing available to more wom-
en.
3
ACOG has produced some guidelineson how
geneticrisk should be established and the circum-
stancesunder which genetic testing should be of-
fered.
4 –10
However, these documentsprovide little
guidance relating specifically to the content and process
of discussions in which genetics or genetic testing is
raised.
The practice ofprenatalcare providers,including
obstetricians and certified nurse-midwives, generally
adheres closely to ACOG guidelines for components of
care that have been recommended for many years, such
as physical examination and certain laboratory studies.
Guidelines are followed less often for components that
have been added recently, such as the offer of maternal
serum alpha-fetoprotein screening,
11
and for compo-
nents thathave been recommended about counseling
and education in health behaviors such as smoking,
drinking,and drug use.
12
Studies
11–13
of the content of early prenatal care have
From the Department of Pediatrics, Johns Hopkins School of Medicine,
Baltimore, Maryland, and the Department of Health Policy and Man-
agement, Johns Hopkins School of Hygiene and Public Health, Baltimore,
Maryland.
We are grateful to Courtland Robinson, MD, and Lisa Summers,
CNM, for assistance with the recruitment of providers and the develop-
mentof study instruments, and to Gary Chase, PhD, for statistical
advice. Thiswork wassupported by grant R01 HG00908 from the
National Center for Human Genome Research, National Institutes of
Health.
648 0029-7844/98/$19.00 Obstetrics & Gynecology
PII S0029-7844(98)00011-8