Reasons to get a carrier screening
Parents can choose carrier screening for many reasons, including a curiosity about genetic risks to consider when planning a family. People with a family health history of a specific inherited disorder can choose to get tested and check for carrier status. Testing both parents is essential to determine whether the baby will inherit both copies of a mutated gene if present. Some disorders can be acquired with a single mutation from the mother.
Should you get a carrier screening test?
If one parent is suspected of having a genetic disorder that runs in the family, a carrier screening is recommended. Doctors may even recommend both parents get tested. Some ethnic groups are at higher risk for developing certain genetic diseases, such as:
- Mediterranean and Southeast Asian, for thalassemia
- African-American, for sickle cell disease
- Ashkenazi Jewish, for Tay-Sachs disease and more
The carrier screening procedure
Carrier screening tests samples of blood, saliva, or tissue from inside the cheek. Positive test results mean the patient has the gene. If the suspected carrier tests negative for a specific disorder, the doctor may not require the partner to get tested. A carrier screening test only needs to be performed once. Carrier screening tests identify gene mutations associated with genetic diseases, including fragile X syndrome, Tay-Sachs disease, cystic fibrosis, spinal muscular atrophy, and blood disorders such as sickle cell disease.
Living with the results
Carrier screening before pregnancy can alert parents of high risk for a genetic disorder. Parents can choose to become pregnant and perform prenatal diagnostic tests on the fetus to monitor for the disorder. Parents also have the choice of using in vitro fertilization (IVF) using donor sperm or eggs to remove the risk of disease. A carrier screening after becoming pregnant limits treatment options. A healthcare professional can discuss the treatment options for parents who are suspected carriers.