Noninvasive detection of fetal aneuploidy using next generation sequencing

Abstract

Cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) utilizing next generation sequencing (NGS) is a highly sensitive and specific approach designed to screen for fetal aneuploidy. NIPT was first introduced in 2011 and has been rapidly adopted in a clinical setting because of the improved performance afforded compared with traditional prenatal serum screening options. We describe a PCR-free, paired-end sequencing-based NIPT, the VeriSeq NIPT Solution. This NIPT screens for fetal aneuploidy of chromosomes 21, 18, 13, X, and Y. Using the validated approach detailed here, users can achieve high sensitivities and specificities for trisomies 21, 18, and 13 as well as sex chromosome aneuploidies with low failure rates. The automated workflow can be completed in 1 day, with only 2 h of hands-on time from a single technician.