If you’re pregnant or thinking about becoming pregnant, you may have heard of genetic carrier screening. Carrier screening is a test that can determine whether or not you carry genes that could result in a specific genetic disorder. 

If you are a genetic carrier, it simply means that you carry at least one gene for a particular disorder. Being a carrier doesn’t necessarily mean your child will inherit a genetic disorder, but it may indicate an increased risk of inheritance. Ultimately, genetic carrier screening can give you important information that can help you plan for the future. 

Who should participate in genetic carrier screening?
Women who are pregnant or thinking about becoming pregnant are offered carrier genetic testing for spinal muscular dystrophy, cystic fibrosis, and hemoglobinopathies. However, there are additional screening tests available that can look for other issues as well. Your doctor might recommend a targeted or expanded carrier screening depending on your family history and overall health.

Targeted carrier screening tests are for disorders based on your ethnicity and family history. If you belong to a race or ethnic group with an increased risk of a particular disease, you may benefit from targeted carrier screening. For example, Thalassemia–a blood disorder that makes an inadequate amount of hemoglobin–often affects individuals of Meditteranean descent. Expanded carrier screening, on the other hand, looks for disorders that occur outside of your race or ethnicity; some expanded genetic carrier screenings test for up to 100 different disorders.

What conditions can genetic carrier screening test for?
Carrier screening is versatile. Your doctor might recommend genetic carrier screening if you have a family history of:

  • Fragile X syndrome
  • Sickle cell disease
  • Cystic fibrosis
  • Tay-Sachs disease

What type of genetic carrier screening is right for me?
To determine what type of genetic carrier screening is right for you, schedule an appointment with your OB/GYN, GP, or genetic counselor. After reviewing your medical history and explaining the pros and cons of each screening option, your provider will be able to make an educated recommendation. Depending on your individual needs, your provider might recommend one screening procedure over the other, or they might tailor a custom screening plan using both. 

Is genetic carrier screening entirely accurate?
Genetic carrier screening is safe and offers a proven track record of success, but no test is perfect. If you have questions or concerns about the accuracy of your test, make sure to discuss them with your provider. 

If you’ve recently learned you’re pregnant, or are thinking about starting a family, genetic carrier screening is an effective way to help understand your risk of having a baby with a genetic disorder.