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Targeted carrier screening began over 50 years ago with a focus on populations at increased risk for specific genetic conditions based on patient-reported racial, ethnic, or ancestral background. As genetic technologies have evolved, testing laboratories have begun offering expanded carrier screening (ECS) panels. Recently, the American College of Medical Genetics and Genomics (ACMG) recommended a universal approach to carrier screening for pregnant patients and those considering a pregnancy, due to the increased recognition that self-identified ancestry is imperfect.

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