O63: Reproductive carrier screening for metabolic conditions with heterozygous manifestations

Heterozygotes for some autosomal recessive or X-linked conditions may be at risk for health manifestations. Several metabolic conditions have potential implications for heterozygotes' health and are associated with clinical actionability. Although these heterozygotes can be identified through reproductive carrier screening (RCS), the rate of detection through RCS is unknown. This study identifies metabolic conditions with potential for heterozygote manifestations that are included in the American College of Medical Genetics and Genomics (ACMG) Tier 3 (113-gene) heterozygote panel and determines their heterozygote frequencies in a cohort of women undergoing RCS.