ACOG recommends use of carrier screening before pregnancy
Stephanie Romero, M.D., from the ACOG Committee on Genetics, and colleagues address carrier screening for use in guiding pregnancy planning. Ethnic-specific, panethnic, and expanded carrier screening are all acceptable screening strategies. Each obstetrician-gynecologist or health care provider or practice should establish a standard approach that is offered consistently and discussed with each patient, preferably before pregnancy. All patients who are considering pregnancy or are already pregnant should be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as complete blood count and screening for thalassemias and hemoglobinopathies, regardless of screening strategy and ethnicity.
Britton Rink, M.D., also from the ACOG Committee on Genetics, and colleagues address carrier screening for genetic conditions, which is performed on individuals without any overt phenotype for a genetic disorder. Information about carrier screening should be made available to all pregnant women, and should ideally be performed before pregnancy. If an individual is found to be a carrier, the individual's reproductive partner should be offered testing. Genetic counseling should be offered if both partners are carriers of a genetic condition.
"Patients must have a clear understanding of what their results mean in order to feel empowered and enabled to make informed decisions about their reproductive health or to prepare to care for future children," a coauthor said in a statement.
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