Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.

ABSTRACT: Direct detection of F8 and F9 sequence variants in maternal plasma of hemophilia carriers has been demonstrated by microfluidics digital PCR. Noninvasive prenatal assessment of the most clinically relevant group of sequence variants among patients with hemophilia, namely, those involving int22h-related inversions disrupting the F8 gene, poses additional challenges because of its molecular complexity. We investigated the use of droplet digital PCR (ddPCR) and targeted massively parallel sequencing (MPS) for maternal plasma DNA analysis to noninvasively determine fetal mutational status in pregnancies at risk for hemophilia. We designed family-specific ddPCR assays to detect causative sequence variants scattered across the F8 and F9 genes. A haplotyp

SUBMITTER: Hudecova I 

PROVIDER: S-EPMC5532756 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature