基于胎儿游离DNA的检测技术在产前筛查和产前诊断的应用进展
Advances in the Application of Detection Technology Based on Fetal Free DNA in Pre-natal Screening and Prenatal Diagnosis
摘要: 染色体非整倍体无创产前基因检测(non-invasive prenatal testing, NIPT)，是一种基于孕妇外周血中胎儿游离DNA (cfDNA)的新型产前筛查技术，对从母体外周血样本中获得细胞游离胎儿DNA的检测和分析,对于常见的胎儿染色体非整倍体异常具有较高的灵敏度和特异性。近年来实验室检测纯化技术提高了NIPT的性能，通过胎儿全外显子组测序(WES)可为遗传性单基因疾病提供非侵入性产前诊断，且孕妇胎儿血浆DNA的全基因组启动子分析显示出胎盘来源妊娠并发症的诊断价值。本文主要介绍基于胎儿游离DNA分子技术在产前筛查及产前诊断中的应用进展。
Abstract: Chromosome aneuploidy non-invasive prenatal genetic testing (NIPT) is a novel prenatal screening technique based on free fetal DNA (cfDNA) from maternal peripheral blood. The detection and analysis of cell-free fetal DNA from maternal peripheral blood samples is highly sensitive and spe-cific to common fetal aneuploidy abnormalities. Recent advances in laboratory assays and purifica-tion techniques have improved NIPT performance, providing a non-invasive prenatal diagnosis of inherited monogenetic diseases through fetal whole exome sequencing (WES), and genome-wide promoter analysis of maternal fetal plasma DNA shows the diagnostic value of placenta derived pregnancy complications. In this paper, advances in the application of fetal free DNA molecular techniques in prenatal screening and prenatal diagnosis are introduced.
文章引用：舒丹, 周梦煌, 邹普润, 唐雷英, 周卫华, 林彤. 基于胎儿游离DNA的检测技术在产前筛查和产前诊断的应用进展[J]. 临床医学进展, 2022, 12(12): 12040-12046. https://doi.org/10.12677/ACM.2022.12121735

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