Prenatal Genetics

Prenatal genetic counseling can help you determine whether your baby may be at increased risk for having a genetic disorder or birth defect and assist you in making decision regarding available testing options.

You may want to talk to a geneticist or genetic counselor if any of the following apply to you:

  • You'll be 35 or older on your due date. (The odds of having a child with a chromosomal abnormality such as Downs Syndrome increase with age.)
  • You've had a stillbirth, three or more miscarriages of unknown cause, or a baby who died in infancy.
  • You, your partner, one or more of your children, or any other family member has a genetic disorder, birth defect or developmental delay.
  • You had a positive result on your nuchal translucency screening or first trimester combined screening, or on your multiple marker screen.
  • Your ultrasound indicated a possible problem.
  • Your baby has been diagnosed with a genetic disorder through prenatal testing such as amniocentesis or chorionic villus sampling.
  • Your ethnic background puts your baby at a higher risk for a condition such as Tay-Sachs, cystic fibrosis, sickle cell anemia, thalassemia or spinal muscular atrophy.
  • You've been exposed to substances that may cause birth defects.
  • You're worried about your chances of having a child with a birth defect or genetic disorder and you want to know more about the available testing.


What happens at a prenatal genetic session?

You will be asked for your family health histories as far back as possible, so try to speak with relatives ahead of time to find out about any birth defects or chronic illnesses (such as heart disease or diabetes) in either of your families. You'll need to find out whatever you can about the health histories of your parents, siblings, children, aunts, uncles and grandparents.
The geneticist or genetic counselor can help you understand the risks, benefits and limitations of any prenatal tests you're considering and the results of tests you've already taken.
An average session takes about 40 to 60 minutes. Afterward, a letter summarizing the session is sent to you and your practitioner, if appropriate. Referrals to community resources or coordination of further prenatal testing may be provided after your session.


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