Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception: A Practice Resource of the American College of Medical Genetics and Genomics (ACMG)

Abstract

(Abstracted from Genet Med 2021;23:1793–1806) Carrier screening can be used to determine if an individual or couple is at risk to have a child with an autosomal recessive or X-linked genetic disorder. The American College of Medical Genetics and Genomics (ACMG) last published documents specific to carrier screening in 2004 and 2008.