@article{8d5713433ba04a67bbad1219b261e37f,
title = "A case for expanding carrier testing to include actionable X-linked disorders",
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.",
keywords = "X-linked, expanded carrier screening, informed decision making",
author = "Rope, {Alan F.} and Kauffman, {Tia L.} and Pat Himes and Amendola, {Laura M.} and Sumit Punj and Yassmine Akkari and Amiee Potter and Davis, {James V.} and Schneider, {Jennifer L.} and Reiss, {Jacob A.} and Gilmore, {Mari J.} and McMullen, {Carmit K.} and Nickerson, {Deborah A.} and Richards, {C. Sue} and Jarvik, {Gail P.} and Wilfond, {Benjamin S.} and Goddard, {Katrina A.B.}",
note = "Funding Information: Funding information The authors have no financial relationships relevant to this article to disclose. This work was supported by the National Human Genome Research Institute as part of the Clinical Sequencing Exploratory Research (CSER) consortium (grant numbers UM1HG007292 co-PIs: Wilfond, Goddard, U01HG006507 [PI: Jarvik], U01HG007307 [Coordinating center]). We would like to thank the study participant and her family for taking part in NextGen and for sharing their time and insights about their experience. The variant analysis and classification were done in the Knight Diagnostic Laboratories (KDL). The image of the subgaleal hemorrhage in the graphical abstract was provided by Dr. Gary Hedlund. We would like to thank Robin R. Daily for her contributions to the preparation of this manuscript. Clinical Trial registry name and registration number: Clinical Implementation of Carrier Status Using Next Generation Sequencing (NextGen) NCT01902901. Funding Information: The authors have no financial relationships relevant to this article to disclose. This work was supported by the National Human Genome Research Institute as part of the Clinical Sequencing Exploratory Research (CSER) consortium (grant numbers UM1HG007292 co-PIs: Wilfond, Goddard, U01HG006507 [PI: Jarvik], U01HG007307 [Coordinating center]). Publisher Copyright: {\textcopyright} 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",
year = "2018",
month = nov,
doi = "10.1002/ccr3.1806",
language = "English (US)",
volume = "6",
pages = "2092--2095",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "11",
}