Noninvasive prenatal diagnosis using next- generation sequencing

Abstract

Noninvasive prenatal diagnosis could be carried out by analyzing cell-free fetal DNA in the plasma of pregnant women. The clinical applications of circulating fetal DNA have been continuously expanded due to the advancement of molecular detection technology. Next-generation sequencing has provided a powerful means to comprehensively analyze cell-free DNA fragments in maternal plasma. Using this technology, such cell-free DNA fragments can be qualitatively and quantitatively analyzed precisely. The application of next-generation sequencing on maternal plasma DNA analysis has allowed researchers to noninvasively detect fetal chromosome abnormalities with high accuracy. The fetal mutational and polymorphic status could also be revealed in a genome-wide scale. Hence, next-generation sequencing would be expected to play an increasingly important role in noninvasive prenatal investigations.