What is carrier screening, and how can it help?

Carrier screening is a simple blood test that can be ordered through your doctor and will provide information to you and your partner about your chances of having a child with a genetic condition.

Many people choose to have this testing either while trying to get pregnant or during early pregnancy.

Why get carrier screening?

Did you know that you or your partner could be a carrier of a genetic condition, even if no one in your family is affected? In fact, most people don’t know they are carriers until after they’ve had screening because typically carriers don’t have symptoms.

Everyone has two copies of each gene, one from their mom and one from their dad. Being a carrier means that one copy of a gene has a change, called a mutation, which causes it to not work properly. Carriers still have one working copy of the gene, so they typically do not have any health problems associated with carrying a mutation and may not realize they are a carrier.

Being a carrier, however, means there is an increased chance that your child could be born with a genetic condition.

For recessive conditions, both parents must be carriers in order to have a child with that particular condition. Some genetic conditions are relatively common and carrier screening may be offered to you, regardless of your ethnic background, while other conditions are common in only certain ethnicities.

Listed below are examples of recessive conditions, along with the particular ethnicity in which they are most common:

  • Cystic fibrosis: Relatively common in all people, regardless of ethnicity
  • Tay-Sachs disease: Most common in the Ashkenazi Jewish, Cajun, French Canadian populations. The disease is less common in other populations
  • Sickle cell disease: Most common in the African American, Hispanic, Non-Hispanic Caribbean, Mediterranean, and Middle Eastern populations. The disease is less common in other populations

Whether or not you choose to pursue carrier screening is up to you. Some parents prefer not to have this sort of testing done, but many do choose carrier screening because it can provide parents with valuable information that can help them better understand their chances of having a child with a genetic condition.

Your provider will be able to give more information about what kind of testing might be best for your family.

  • Mayo Clinic Staff. “Genetic Testing.” MayoClinic. Mayo Foundation for Medical Education and Research, Jun 2017. Web. Accessed 7/31/17. Available at http://www.mayoclinic.org/tests-procedures/genetic-testing/home/ovc-20325301.
  • “Carrier Screening for Genetic Conditions.” ACOG. Committee Opinion no. 691 from the American College of Obstetricians and Gynecologists, Mar 2017. Web. Accessed 7/31/17. Available at https://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Carrier-Screening-for-Genetic-Conditions.
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