EXPERIENCE WITH CARRIER SCREENING FOR X-LINKED CONDITIONS

Abstract

Current ACOG carrier screening guidelines do not support routine inclusion of X-linked (XL) conditions. There are over 100 known XL conditions. Clinical presentation depends on many variables and males are typically affected while females may show varying symptoms. Despite high de novo mutation rates, the identification of carriers for XL conditions is important as females have a 50% chance of transmitting a disease-causing variant. The aim of this study was to determine the carrier frequency of XL conditions identified through routine carrier screening for the purpose of reproductive planning.