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.

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

Fingerprint

Genome
Factor VIII
Nuclear Family
Sequence Analysis
Newborn Infant
Pregnancy
Mutation
Research

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Rope, A. F., Kauffman, T. L., Himes, P., Amendola, L. M., Punj, S., Akkari, Y., ... 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

A case for expanding carrier testing to include actionable X-linked disorders. / Rope, Alan F.; Kauffman, Tia L.; Himes, Pat; Amendola, Laura M.; Punj, Sumit; Akkari, Yassmine; Potter, Amiee; Davis, James V.; Schneider, Jennifer L.; Reiss, Jacob A.; Gilmore, Mari J.; McMullen, Carmit K.; Nickerson, Deborah A.; Richards, Carolyn (Sue); Jarvik, Gail P.; Wilfond, Benjamin S.; Goddard, Katrina A.B.

In: Clinical Case Reports, 01.01.2018.

Research output: Contribution to journalArticle

Rope, AF, Kauffman, TL, Himes, P, Amendola, LM, Punj, S, Akkari, Y, Potter, A, Davis, JV, Schneider, JL, Reiss, JA, Gilmore, MJ, McMullen, CK, Nickerson, DA, Richards, CS, Jarvik, GP, Wilfond, BS & Goddard, KAB 2018, 'A case for expanding carrier testing to include actionable X-linked disorders' Clinical Case Reports. https://doi.org/10.1002/ccr3.1806
Rope, Alan F. ; Kauffman, Tia L. ; Himes, Pat ; Amendola, Laura M. ; Punj, Sumit ; Akkari, Yassmine ; Potter, Amiee ; Davis, James V. ; Schneider, Jennifer L. ; Reiss, Jacob A. ; Gilmore, Mari J. ; McMullen, Carmit K. ; Nickerson, Deborah A. ; Richards, Carolyn (Sue) ; Jarvik, Gail P. ; Wilfond, Benjamin S. ; Goddard, Katrina A.B. / A case for expanding carrier testing to include actionable X-linked disorders. In: Clinical Case Reports. 2018.
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