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 the risk of having a child with a genetic disease. 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 disease, 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 disease.

For so-called ‘recessive’ diseases, both parents must be carriers in order to have a child with that particular disease. Some genetic diseases are relatively common and carrier screening may be offered to you, regardless of your ethnic background, while other diseases are common in only certain ethnicities. Listed below are examples of recessive diseases, 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

Carrier screening can provide parents with valuable information to help them understand their risk of having a child with a genetic disorder, and make the best decisions for their family. Talk to your doctor today to find out if carrier screening is right for you.

Read more
  • Mayo Clinic Staff. "Genetic testing." Mayo Clinic. Mayo Clinic, 7/19/2013. Web.
  • "Carrier Testing for CF." CFF. Cystic Fibrosis Foundation, n.d. Web.
  • "Genetic Testing." Genetics Home Reference. U.S. National Library of Medicine, Ocotber 19 2015. Web.
  • Wayne W. Grody, MD, PhD, Barry H. Thompson, MD, MS, Anthony R. Gregg, MD, Lora H. Bean, PhD, Kristin G. Monaghan, PhD, Adele Schneider, MD, Roger V. Lebo, PhD. "ACMG position statement on prenatal/preconception expanded carrier screening." ACMG. American College of Medical Genetics and Genomics, 6/13/2015. Web.
  • Committee on Genetics. "Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent: Committee Opinion Number 442." ACOG. American College of Obstetricians and Gynecologists, 10/9/2015. Web.