Open AccessA case for expanding carrier testing to include actionable X‐linked disorders
Author(s) -
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.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1806
Subject(s) - medicine , psychological intervention , genetic testing , carrier testing , pregnancy , genetics , prenatal diagnosis , nursing , fetus , biology
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.