Advances in non-invasive prenatal gene detection technologies / 中华检验医学杂志

ABSTRACT

Non-invasive prenatal testing is a novel detection method which uses sequencing of maternal plasma cell-free DNA in order to screen genetic disease for pregnant women. Compared to traditional prenatal pregnancy tests and disease diagnosis techniques, this technology is non-invasive, convenient, accurate and so on. Since the discovery of cell-free DNA in the peripheral maternal plasma in 1997, non-invasive prenatal genetic testing has been widely used in clinical pregnancy tests and related medical research with the development of high-throughput gene sequencing,it has meaningful achievements in the detection of fetal aneuploidy and enormous challenges in the detection of complex genetic diseases . This article reviews the development of non-invasive prenatal genetic testing technology.