Abstract

The American College of Medical Genetics’ policy statement endorses offering expanded carrier screening (ECS) to all couples considering pregnancy and those who are pregnant, across all ethnicity groups while stressing the importance of pre- and post-test counseling. For at-risk couples in which both partners are carriers of the same autosomal recessive (AR) genetic condition or in which the female partner is a carrier of an X-linked (XL) condition, results are actionable, with additional testing offered before, during or after a pregnancy.

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