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, Carolyn (Sue) Richards, Gail P. Jarvik, Benjamin S. Wilfond, Katrina A.B. Goddard

Research output: Contribution to journalArticle

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)
JournalClinical Case Reports
DOIs
StateAccepted/In press - Jan 1 2018

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Rope, A. F., Kauffman, T. L., Himes, P., Amendola, L. M., Punj, S., Akkari, Y., Potter, A., Davis, J. V., Schneider, J. L., Reiss, J. A., Gilmore, M. J., McMullen, C. K., Nickerson, D. A., Richards, C. S., Jarvik, G. P., Wilfond, B. S., & Goddard, K. A. B. (Accepted/In press). A case for expanding carrier testing to include actionable X-linked disorders. Clinical Case Reports. https://doi.org/10.1002/ccr3.1806