A case for expanding carrier testing to include actionable X‐linked disorders

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 exis...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230667/
https://www.ncbi.nlm.nih.gov/pubmed/30455898
http://dx.doi.org/10.1002/ccr3.1806
Descripción
Sumario: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.

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