A case for expanding carrier testing to include actionable X‐linked disorders. Issue 11 (19th September 2018)

• Record Type: Journal Article
• Authors: 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, C. Sue; Jarvik, Gail P.; Wilfond, Benjamin S.; Goddard, Katrina A. B.
• Is Part Of: Clinical case reports. Volume 6:Issue 11(2018)
• Page Start: 2092
• Page End: 2095
• Publication Date: 2018-09-19
• Subjects: expanded carrier screening -- informed decision making -- X‐linked; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1806
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.