关键词: 产前诊断, 染色体障碍, 染色体畸变, 胎儿游离DNA, 无创产前检测

Abstract: Noninvasive prenatal testing (NIPT) is performed for screening fetal aneuploidy through the next generation sequencing technology with cell-free DNA (cfDNA) in maternal plasma. It is currently the best prenatal screening technology for detecting chromosome aneuploidy, because of its high detection rate, sensitivity and specificity, and low false-positive rate. Especially, NIPT, which has been available clinically, improves significantly the efficiency of invasive prenatal diagnostic technology. However, some maternal and fetal factors can affect the results of NIPT, so that the individual situation of different pregnant women should be fully considered in clinical application. In this paper, the clinical research progress and influencing factors of NIPT were reviewed in order to provide a reference for individualized and standardized application of NIPT technology.

Key words: renatal diagnosis;chromosome disorders, chromosome aberrations, cell-free fetal DNA, noninvasive prenatal testing