Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders – problems and possible solutions

Abstract

AbstractWhat’s already known about this topic?Sequencing-based noninvasive testing can detect large copy number abnormalities and some auto-somal dominant single-gene disordersExome sequencing (ES) on fetal samples provides 20% diagnostic yield for structural abnormalities after normal karyotype & microarrayWhat does this study add?ES on cell-free DNA in three gravid patients with suspected genetic disease in the fetusWe demonstrate broad sequencing approaches are limited by sampling and technical difficulties, concluding broad sequencing is currently inappropriate for noninvasive testing