Genetic testing during pregnancy: what you need to know

Aug 29, 2018

If you and your partner are thinking about having a child, you’re likely considering how to give your little one the best start in life. In addition to which stroller, car seat, and crib to buy, you may also want to consider genetic testing, which helps determine if parents are carriers for certain disorders and if a child may have a birth defect.

Prenatal genetic testing isn’t for everyone; it’s a very personal choice. Before you embark on this path, it’s a good idea for you and your partner (along with your healthcare provider or a genetic counselor) to discuss the pros and cons of screenings and diagnostic tests and how you would use the results.

Some expectant parents find testing valuable in helping them prepare for their baby’s birth and first few months. For instance, if it turns out that your baby is at high risk for Down syndrome, you can have more detailed ultrasounds, as there is a higher risk for heart defects. Your baby can also undergo more extensive evaluations after birth to make sure all complications are identified and addressed as early as possible.

The earlier you start genetic testing, the better; each test’s results can take one to two weeks to come back. And some interventions and tests are best done early in a pregnancy.

What Testing Can Uncover

As you consider undergoing genetic testing, it’s important to know what can and can’t be screened for. Disorders that can come up in testing include:

  • Cystic fibrosis (affects the lungs, pancreas, and other organs)
  • Sickle cell disease (blood disorder)
  • Tay-Sachs disease (causes progressive degeneration of the central nervous system)
  • Thalassemia (blood disorder)

Testing can also tell you if your baby will have an open neural tube defect or a brain or spinal cord birth defect, such as spina bifida. Testing can also screen for and diagnose certain chromosome disorders, such as Down syndrome and Trisomy 18.

Who Should Be Tested

If you are a member of a racial/ethnic group that is genetically at higher risk for certain disorders, you may want to seriously consider screening:

  • European Caucasian descent (cystic fibrosis)
  • Ashkenazi Jewish descent (cystic fibrosis and Tay-Sachs)
  • African-Americans (sickle cell disease and thalassemia)
  • Mediterranean descent (sickle cell disease and thalassemia)
  • Southeast Asian descent (thalassemia)
  • French Canadians (cystic fibrosis and Tay-Sachs)
  • Women of advanced maternal age (Down syndrome)

While genetic disorders and birth defects aren’t typical, they do happen. By getting screened early, you can better prepare and, in some cases, even help your baby have a healthier future.

For greater detail about prenatal screening and diagnostic genetic testing, click here.

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