All women who are thinking about getting pregnant or who are already pregnant are offered carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy. You can have screening for additional disorders as well. There are two approaches to carrier screening for additional disorders: 1) targeted screening and 2) expanded carrier screening.
In targeted carrier screening, you are tested for disorders based on your ethnicity or family history. If you belong to an ethnic group or race that has a high rate of carriers for a specific genetic disorder, carrier screening for these disorders may be recommended. This also is called ethnic-based carrier screening. If you have a family history of a specific disorder, screening for that disorder may be recommended, regardless of your race or ethnicity.
In expanded carrier screening, many disorders are screened using a single sample. This type of screening is done without regard to race or ethnicity. Companies that offer expanded carrier screening create their own lists of disorders that they test for. This list is called a screening panel. Some panels test for more than 100 different disorders. Screening panels usually focus on severe disorders that affect a person’s quality of life from an early age.
What are my choices if I do want to get pregnant?
- You can get pregnant and have prenatal diagnostic tests to see if the fetus has the disorder.
- You can choose to use in vitro fertilization (IVF) with donor eggs or sperm to get pregnant. With this option, the embryo can be tested before it is transferred to the uterus.
- You may choose not to get pregnant.
- You may choose to adopt a child.