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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。
Tests and assessments of prenatal fetal health are usually divided into invasive and noninvasive methods. Conventional screening methods include biochemical and mammographic sonography of maternal blood samples. Invasive methods include amniocentesis, chorionic villus sampling (CVS), umbilical cord blood sampling, etc. Although these methods can be accurately diagnosed, they may cause fetal damage and lead to maternal miscarriage and other adverse consequences. With the development of genome sequencing technology, a new noninvasive detection method, non-invasive prenatal testing (NIPT) undoubtedly opens up a new era of prenatal diagnosis. NIPT is a method of testing fetal free DNA in maternal peripheral plasma to determine if a fetus has a genetic disorder. The high sensitivity and specificity of NIPT have the potential to replace the current use of serum screening and invasive diagnostics. With the progress of science and technology, the scope of clinical application of NIPT will be more and more extensive in the future. In this paper, a brief introduction of fetal DNA in maternal blood, NIPT combined with next-generation sequencing to detect genetic diseases, free RNA in maternal plasma, and clinical application of NIPT at home and abroad are made in this paper, and its future development trend is prospected.