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

Clin Case Rep. 2018 Sep 19;6(11):2092-2095. doi: 10.1002/ccr3.1806. eCollection 2018 Nov.


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.

Publication types

  • Case Reports