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Prenatal Genetic Counseling

What is Prenatal Genetic Counseling?

Prenatal genetic counselors work with individuals, couples, or families who have an increased chance of having a child with a birth defect or genetic condition.

Those who are already pregnant or are considering having a child in the future can meet with a prenatal genetic counselor to learn more about the condition in question, understand their risks more clearly, and discuss options for prenatal screening, testing, and/or assisted reproduction techniques such as sperm and egg donation.

During pregnancy, if a baby is found to have a birth defect or genetic condition you may be referred to a prenatal genetic counselor. The counselor will help the expecting parent(s) understand the medical information, what to expect, how to prepare, and options.

Prenatal counselors also help many families who do not have an increased chance of having a child with a birth defect or genetic condition to understand prenatal screening and testing options. Procedures such as blood tests and ultrasounds may be able to give a better idea if a developing baby has a chance of having birth defects or a genetic condition.

Why See a Prenatal Genetic Counselor?

If you:

  • Are worried about a genetic condition or a disease that runs in your family.
  • Have a child who is affected with a genetic condition and are thinking about having another child in the future.
  • Have family members with an intellectual disability or birth defects.
  • Have a history of infertility or pregnancy losses (miscarriages or stillbirths).
  • Are concerned that your health or lifestyle poses a risk to the pregnancy.
  • Are concerned about risks to the pregnancy associated with increasing parental age.
  • Receive abnormal prenatal screening or ultrasound results.
  • Are concerned that you are at increased risk of being a carrier of a genetic condition because of your ethnic background (some diseases are more common in certain ethnicities).
  • Are pregnant and the baby has been diagnosed with a birth defect or genetic condition.
  • Have taken a medication or drug during pregnancy or have been exposed to a chemical and are concerned that it might cause a problem for the baby.

Depending on the reason for the visit, some things a genetic counselor may do during an appointment are:

  • Go over your family and medical history with you.
  • Figure out and explain your chances of having a child with specific genetic conditions.
  • Help you explore and make decisions about your options for screening and testing before and during pregnancy.
  • Help you interpret screening or testing results.
  • Help you understand medical and genetic information.
  • Provide you with information about any problems detected during pregnancy and help you understand your options.
  • Provide counseling and emotional support.
  • Refer you to support and advocacy networks.

Additional Information:

Last Updated
Adapted from Making Sense of Your Genes: A Guide to Genetic Counseling (Copyright © 2008 National Society of Genetic Counselors)
The information contained on this Web site should not be used as a substitute for the medical care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances.
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