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Before and During Pregnancy

Pregnancy is the most common reason people see genetic counselors

Pregnancy is the most common reason people see genetic counselors. You might see a genetic counselor before becoming pregnant (preconception) or while you are pregnant (prenatal). Ideally, you should see a genetic counselor before having genetic testing. A genetic counselor will provide insight and guidance in making a decision about testing that will give you the information you desire and explain what test results may or may not tell you.

Here are some reasons you might see a genetic counselor who specializes in prenatal conditions:

  • You wonder about your baby’s risk of having a birth defect or genetic condition that runs in your family.
  • You’ve been unable to conceive, have had three or more miscarriages, or lost a child, and you are wondering if genetics played a role. Learn more about how genetics can affect infertility.
  • You’re pregnant and your doctor talked to you about genetic testing:
    • for conditions such as Down syndrome or spina bifida, or
    • to learn if you carry a genetic mutation you could pass on to your baby (this is called carrier testing). Because only about one percent of couples who have carrier testing actually are at risk, most couples ultimately are reassured by genetic testing. Learn more about carrier testing.
  • You've receved a concerning test result or had an ultrasound that suggests there might be a problem and you would like guidance on interpreting results.

There are a number of prenatal screening tests that may be recommended by your doctor. One test, called cell-free DNA screening (cfDNA) or non-invasive prenatal testing (NIPT), is a screening test that can be done as early as 9 or 10 weeks into the pregnancy by drawing a small amount of the mother’s blood. It screens for Down syndrome and trisomy 18, with 99 percent accuracy when a result is provided. It can screen for other conditions, too, including trisomy 13, Turner syndrome and Klinefelter syndrome, although the test might not perform as well for these conditions. Many couples do not realize what these tests may or may not tell them, so meeting with a genetic counselor prior to having cfDNA or other prenatal screening tests is highly recommended. Because cfDNA is a screening test, your doctor or genetic counselor may recommend a follow-up diagnostic test, such as amniocentesis, to confirm the screening test results.

Learn more about things you should consider before having prenatal screening

By working with a genetic counselor, you can determine whether genetic testing may be beneficial for you. For some people, proceeding with genetic testing makes sense. Here are some examples of how it may help.

  • Some who learn they have a family history of a genetic disorder and carry a gene mutation (sometimes called a variant) may choose preimplantation testing before becoming pregnant. Using this method, couples see a fertility specialist and undergo assisted reproduction, and then have the embryos tested to determine if any have inherited the disorder. Embryos that don’t test positive for the genetic disorder are transferred to the uterus with the hope of leading to a pregnancy.
  • Because there are treatments or therapies available for many genetic disorders – before or immediately after delivery – genetic testing can make a significant difference. In some cases, if a condition is detected early enough, it could save the child’s life.
  • Learning that a fetus has a disorder can help couples better prepare, even if no treatment is available. The genetic counselor can provide additional resources, including education, support groups and where to turn for medical help.

But prenatal genetic testing has its limitations. So far, testing is only available for 30 to 40 conditions. In some cases, results may not be available in time for treatment.  

If you choose to move forward, a genetic counselor can help you sort through the information and can help you determine whether you want testing and how it may or may not help. You will spend 30 minutes to an hour discussing your situation. The genetic counselor will ask you many questions, including details about your family history.

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