Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening.

Abstract excerpt

Prenatal cell-free DNA (cfDNA) screening and carrier screening (CS) may have incidental findings that have implications for maternal health outside the scope of the test. We investigated outcome information for individuals with both a DMD full gene deletion/duplication on CS and a suspected maternal X chromosome abnormality on SNP-based prenatal cfDNA screening. This retrospective analysis included de-identified...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Aneuploidy
• Share to Cell-Free Nucleic Acids