Carrier Screening in Pregnancy for Inherited Disorders

The American College of Obstetricians and Gynecologists recommends that all pregnant women (and women planning to become pregnant) be offered carrier screening tests, which look for certain inherited, recessive gene disorders, including:

Cystic fibrosis (CF), a serious breathing and digestion disorder

Spinal muscular atrophy (SMA), the loss of nerve cells that control muscle movement, causing weakness and wasting away of the skeletal muscles.

Hemoglobinopathies, disorders involving abnormal hemoglobin cells (hemoglobin in the blood carries oxygen to the body's organs and tissues)

Fragile X syndrome, a disease involving the X chromosome that can cause mental disability.

Sickle cell disease, in which abnormal red blood cells cause anemia and pain.

TaySachs disease, which causes mental disability, seizures, blindness and, ultimately, death.

Carrier screening tests a sample of blood, saliva or tissue from the inner cheek and can be done anytime in pregnancy with 1 or both parents. There are 2 types of screens (talk with your pregnancy healthcare provider about the pros and cons or each):

Targeted Screening for specific disorders based on family history and ethnicity (since some disorders are more common for certain races or ethnic groups)

Expanded Screening for many disorders at once, using just 1 blood, saliva or tissue sample. While some screening panels can test for more than 100 different disorders, they usually focus on severe disorders that can affect quality of life early on.

Usually, the parent-to-be most likely to carry a particular disorder is tested first. With recessive gene disorders, a child must inherit the gene from both parents to get the disorder or disease.

If the first parent tests negative, no further testing is needed. If he or she tests positive, the other parent is tested. If both are carriers, the baby will have the disorder.

If only one parent carries the recessive gene, the baby may as well (but not the full-blown disorder). Carriers often don't even know they have a gene for a particular disorder, because they have only mild or no symptoms.

Keep in mind that you don't have to undergo carrier screening; its a good idea, though, if any of these genes or disorders run in your family. If it appears likely that your baby will have one of these disorders, knowing in advance is helpful for planning and considering your options.

Learn more about carrier screening.

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