While most women give birth to healthy babies, about 3-5% of
babies have a major birth defect such as a neural tube defect
(spina bifida) or a heart defect. During a genetic counseling
appointment, you will meet with one of our genetic counselors
to review your family history, ethnicity, personal health and
pregnancy history to evaluate if you have any additional pregnancy
risks. We will also review appropriate prenatal screening and
diagnostic tests for your specific situation. We will do our best
to answer all your specific questions about testing options or
family history concerns.
This information can assist in making
decisions regarding testing, but you will not be told what to
do. We are simply here to help sort through the complex information
and variety of choices that may be available. Choosing to pursue
with testing or deciding not to have testing are both equally
valid decisions. Our goal is to ensure that you and your family
are comfortable with the decision and that you feel you made an
informed choice.
Prenatal genetic counseling is often recommended for any of the
following reasons:
You (or your partner) ...
- have a genetic disorder or birth defect
- will be 35 years of age or more at the time of expected
delivery
- have a previous child with a birth defect or genetic conditionz
- have experienced a stillbirth or multiple miscarriages
with no known explanation
- have a medical condition such as epilepsy or insulin-dependent
diabetes that requires that you take medications
- or someone in your family have a child with mental retardation
or developmental delay
- want to know more about testing for recessive genetic diseases
that are common for certain ethnic backgrounds (for example,
sickle cell disease, Tay-Sachs disease, cystic fibrosis)
- have a positive screening test result, such as the triple
or quad maternal serum screen
- have had an ultrasound examination that reveals a physical
abnormality or variation in the fetus
- have concerns about the chance of having a child with a
birth defect or genetic disease and wish to learn more about
available testing
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