The ability to offer genetic information to inform reproductive decisions, for example through reproductive genetic carrier screening, expanded prenatal testing, or preimplantation embryo screening, is increasingly prevalent. A defining feature of such technologies is that they offer information on many genetic conditions in the one test. Common rationales for expanding the offer of such information include that the results can inform people’s decisions regarding selective reproduction or prepare them to parent a child with a genetic condition.

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.