BHealthy Blog

Genetic Carrier Screenings Explained

As you prepare to become pregnant or plan for life with a baby, genetic carrier screenings can play an important role in educating yourself about what genes you could potentially pass on to your child, and how they could affect his or her life. The American College of Obstetrics and Gynecology answers the following frequently asked questions:

What is a genetic carrier screening?

A genetic carrier screening is conducted by taking a sample of blood, tissue or saliva from the inside of your cheek. This sample is then tested to see if you carry a gene for common genetic disorders, or a disorder you are likely to carry due to your family health history or ethnicity. Both partners are tested to most accurately measure your child’s risk.

What is the difference between a carrier and someone with a genetic disorder?

To develop a genetic disorder, you need to have two of the disorder’s genes. A carrier only has one, and likely won’t show any symptoms of the disorder.

When is a genetic carrier screening done?

A genetic carrier screening can be conducted either before you become pregnant or after you have conceived.

Why should I have a genetic carrier screening?

A genetic carrier screening is a great choice to prepare yourself for all possible scenarios with your child. We recommend talking to your doctor to decide on the best option for you and your baby.

What types are disorders are tested with a genetic carrier screening?

The most common disorders we test for include cystic fibrosis, fragile X syndrome, sickle cell disease, and Tay-Sachs disease.

Will my results be shared with anyone else?

The Genetic Information Nondiscrimination Act (GINA) protects you from having your results shared with your health insurance, employer or another third party. Though you aren’t required to, you should consider sharing your results with your family members if you are a carrier of a genetic disorder, as they may be as well. 

You want to do everything you can to make sure your baby is as happy and healthy as possible, and at Baptist Health, we’re here to help. Learn more about how you can better take care of yourself and your child during pregnancy and beyond.