Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Carrier screening has historically assessed a relatively small number of autosomal recessive and X-linked conditions selected based on frequency in a specific subpopulation and association with severe morbidity or mortality. Advances in genomic technologies enable simultaneous screening of individuals for several conditions. The American College of Medical Genetics and Genomics recently published a clinical practice resource that presents a framework when offering screening for autosomal recessive and X-linked conditions during pregnancy and preconception and recommends a tier-based approach when considering the number of conditions to screen for and their frequency within the US population in general. This laboratory technical standard aims to complement the practice resource and to put forth considerations for clinical laboratories and clinicians who offer preconception/prenatal carrier screening.
Competing Interests: Conflict of Interest Saurav Guha, Mahmoud Aarabi, Marina DiStefano, and Erin Wakeling are directors of molecular testing laboratories that offer carrier screening. Honey V. Reddi is a Consultant Director for Biofidelity Inc. Jeffrey S. Dungan is a member of the Advisory Board for Informed DNA and Medical Codirector at Insight Medical Genetics, which provides genetic laboratory services. All other authors declare no conflicts of interest.
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