无创性游离DNA产前诊断胎儿染色体异常的现状

唐氏综合征（DS）是导致儿童智力先天残疾的重要原因。常规的产前诊断操作如羊膜穿刺术、绒毛活检等方法存在风险较高等不足。产前无创性游离DNA（cfDNA）诊断可避免对胎儿的侵入性操作，通过孕妇外周血循环中胎儿cfDNA对唐氏综合征及其他遗传性疾病进行无创早期诊断，受到临床的广泛关注，成为产前诊断领域的研究热点。尽管近年来cfDNA诊断技术具有较大发展，但此技术在广泛应用于临床前，还面临着技术、经济、法律以及伦理学等诸多问题尚待解决。综述无创性cfDNA产前诊断胎儿染色体异常的现状。

Application of Non-Invasive Fetal Cell-Free DNA Test in Prenatal Diagnosis of Fetus Chromosomal Abnormality: A Review

Down syndrome (DS) is one of the important reasons for the intelligence congenital deformity in children. Regular prenatal diagnosis is not satisfied due to the invasive procedures, such as amniocentesis and chorionic villus sampling. Nowadays, the non-invasive cell-free DNA (cfDNA) screening and diagnosis can avoid those invasive procedures. The application of cfDNA test with the peripheral blood of pregnant women in the non-invasive prenatal screening and diagnosis of DS and other genetic diseases has received extensive attention in the field of prenatal diagnosis. Although the cfDNA diagnosis technology has been greatly developed in recent years, there are still many problems to be solved, such as technical, legal and social issues, before its extensive use. In this paper, the non-invasive cfDNA and its application in prenatal diagnosis were reviewed.