A case for expanding carrier testing to include actionable X-linked disorders.

Alan F Rope Tia L KauffmanPat HimesLaura M AmendolaSumit PunjYassmine AkkariAmiee PotterJames V DavisJennifer L SchneiderJacob A ReissMari J GilmoreCarmit K McMullenDeborah A NickersonC Sue RichardsGail P JarvikBenjamin S WilfondKatrina A B Goddard

Published in: Clinical case reports (2018)

A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.

Keyphrases

physical activity
preterm birth
early onset
gene expression
genome wide
case report
pregnant women
pregnancy outcomes
sensitive detection