Abstract

The discovery of cell-free fetal DNA (cff DNA) in maternal plasma, as well as the maturation of fetal cell (nucleated red blood cells and trophoblast cells) separation techniques provides a broad prospect for non-invasive prenatal testing (NIPT). A variety of molecular diagnostic techniques had been developed to diagnose fetal chromosomal abnormalities and monogenic diseases. This article will review the discovery of cff DNA, the application of high-throughput sequencing and fetal cell in non-invasive prenatal testing. Key words: Cell-free fetal DNA; High-throughput sequencing; Chromosome aneuploidy; Monogenic disease; Non-invasive prenatal testing

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