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

Alan F. Rope, Tia L. Kauffman, Pat Himes, Laura M. Amendola, Sumit Punj, Yassmine Akkari, Amiee Potter, James V. Davis, Jennifer L. Schneider, Jacob A. Reiss, Mari J. Gilmore, Carmit K. McMullen, Deborah A. Nickerson, C. Sue Richards, Gail P. Jarvik, Benjamin S. Wilfond, Katrina A.B. Goddard

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2092-2095
Number of pages4
JournalClinical Case Reports
Volume6
Issue number11
DOIs
StatePublished - Nov 2018

Keywords

  • X-linked
  • expanded carrier screening
  • informed decision making

ASJC Scopus subject areas

  • Medicine(all)

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