无创产前检测的发展进程

The development of non-invasive prenatal testing

产前胎儿健康状况的测试和评估通常分为侵入性和非侵入性两种手段,常规的筛查方法包括母亲血液样本的生化检查和影像学超声检查。侵入性方法包括羊膜穿刺术(amniocentesis),绒毛膜取样(chorionic villus sampling,CVS),脐血取样等,这些方法虽能准确地诊断,但可能造成胎儿损伤,导致产妇流产等不良后果。随着基因组测序技术的发展,一种新的非侵入性检测方法,无创产前检测(non-invasive prenatal testing,NIPT)无疑开辟了产前诊断的新纪元。NIPT是对母体外周血浆中胎儿游离DNA进行检测分析,从而判断胎儿是否患遗传性疾病的一种方法。NIPT的高灵敏度和特异性具有替代目前使用血清筛查和侵入性诊断的前景。随着科技的进步,未来NIPT在临床上应用的范围会越来越广泛。本文中针对母亲血中胎儿游离DNA,NIPT结合下一代测序检测遗传性疾病,母亲血浆中游离RNA,NIPT国内外临床应用等方面做简单介绍,对其今后发展趋势做出展望。

Prenatal fetal testing and assessment can be undertaken using invasive and non-invasive methods,and conventional screening strategies are based on biochemical assays of maternal blood and ultrasound measurements. Invasive methods include amniocentesis and chorionic villus sampling（CVS）,umbilical cord blood sampling. These invasive methods have a small but definite risk of fetal and maternal complications such as fetal injury and miscarriage. Recent advances in genomic sequencing have led to development of noninvasive detection methods,and a new concept,non-invasive prenatal diagnosis（NIPT）has been a historic progress of prenatal diagnosis. This method,known as NIPT,is a molecular approach for assessing fetal aneuploidy using cell-free fetal DNA（cffDNA）from the plasma of pregnant. Its high sensitivity and specificity make it an attractive alternative to the serum screens and invasive tests currently in use. Future advances in NIPT technology would expand the range of diseases that can be detected. Here,we aim to discuss the development of cell-free fetal DNA in maternal blood,NIPT and next generation sequencing（NGS）,the current clinical applications of NIPT worldwide,and look to what the future might bring as technology continues to evolve.