When to Talk to a Genetic Counselor
Couples who are thinking about having a child
may consider genetic counseling before conception
to determine if they have an increased risk for
having a child with a birth defect, Down syndrome
or an inherited condition. Others may use genetic
counseling and prenatal diagnosis after they
conceive to evaluate the condition of the fetus.
"Genetic counseling and prenatal diagnosis
are used to help answer some key questions for
potential parents and to provide parents with
information that they need to make important
decisions about pregnancy," says Deborah
Driscoll, MD, a specialist in reproductive genetics
and Chair of the Department of Obstetrics and
Gynecology at the University of Pennsylvania
Health System.
What service does a genetic counselor provide?
Genetic counselors are health care professionals
certified by the American Board of Genetic
Counseling. A counselor will ask you detailed
questions about your family history to determine
if your child is at risk for inheriting a genetic
condition or birth defect. They coordinate
screening and provide answers to your questions.
Some of your questions may include:
- Should we have a baby?
- Are the chances of having a baby with a genetic
disorder so high that choosing adoption or
using a donor egg or sperm may be a better
way to start a family?
- How can we treat the fetus' potential disorder?
- Are there surgical techniques available or
other medical procedures that may help alleviate
problems?
- How do we prepare, physically and psychologically,
for the possible outcome of a pregnancy?
- Are there special educational classes, training,
or information that we need in order to raise
a child with a special condition?
"Preconception testing can only provide
the odds of having a child with a certain birth
defect; a genetic counselor will help you interpret
the results of the testing and will offer options
for your next steps should you have positive
results," says Rose Giardine, a genetic
counselor at the Hospital of the University of
Pennsylvania.
Dr. Driscoll concludes, "A genetic counselor
will help you figure out how to use this information,
but will not make any decisions for you. It is
your personal decision whether or not you want
to undergo screening. Screening provided may
be beneficial for some expectant parents, while
others may not want to know this information
prior to delivery."
If you have questions about genetic counseling,
or if you would like to make a genetic counseling
appointment with a Penn Ob/Gyn Care physician
please call 1-800-789-PENN or you can also request
an appointment online.
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