What is Genetic Carrier Screening?

Genetic carrier screening is a test performed to determine whether a parent has a genetic mutation that might be passed down to a child, resulting in a serious genetic disorder.  Information gathered from these screenings can be used by expecting parents to plan their pregnancies as well as plan life after childbirth.

What is a Genetic Carrier?

Each individual receives one set of genes from the father and one set of genes from the mother. Genetic carrier screening is a way of testing for recessive disorders. In order for an individual to inherit the condition, they must receive a mutated gene from each parent.

Individuals who have one mutated gene and one healthy gene are considered carriers. A genetic carrier does not exhibit signs of a genetic condition. However, there is a possibility that they could pass this gene down to their children.

How is Genetic Carrier Screening Performed?

Genetic carrier screening is typically performed before conception using a blood sample or a saliva sample. Generally, the parent who is most at risk of carrying a mutation is tested first. If the test results show that this individual is not a carrier, then no further testing is required. However, if it is discovered that this individual is a carrier, then the other parent will need to be tested as well.

New technologies in genetic carrier screening now allow for the screening of more than 250 genetic disorders. Speak to your doctor about which genetic conditions can be screened for.

Who Should Consider Genetic Carrier Screening?

The American College of Obstetricians and Gynecologists recommends that the following individuals consider genetic carrier screening:

  • Individuals with a genetic disorder
  • Individuals with a family history of a genetic disorder
  • Women who have given birth to a child with a genetic disorder
  • Individuals who belong to an ethnic group that has an increased risk of carriers of specific genetic disorders. Learn more about these statistics here.

Any individual planning a pregnancy and who wants to be more informed about their pregnancy should also consider genetic carrier screening. In your prenatal visit, speak with your doctor about this test option. All risk factors should be discussed with you and taken into account when your doctor discusses this testing option with you.

Learn More About Genetic Carrier Screening With a Genetic Counselor

Genetic counselors are trained healthcare professionals that help you understand prenatal testing options, the results of prenatal tests, the severity of specific genetic disorders, and reproductive options.

Knowledge is empowering and allows you to plan. An individual can be a carrier of a genetic disorder even if they are healthy, have previously given birth to children who are healthy, or if they have no family history of a genetic condition. Talk to your doctor or a genetic counselor to learn more about genetic carrier screening.

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