使用母体外周血胎儿游离DNA进行胎儿非整倍体的非侵入性产前诊断的研究进展  

Advances in non-invasive prenatal diagnosis of fetal aneuploidies using cell free fetal DNA

作　　者：陈杏园 罗世强 袁德健 唐宁 CHEN Xing-yuan;LUO Shi-qiang;YUAN De-fian;TANG Ning(Department of Medical Genetics,Liuzhou Maternal and Child Health Care Hospital;Key Laboratory of Birth Defect Prevention and Control,Liuzhou,Guangxi,Liuzhou 545001)

机构地区：[1]柳州市妇幼保健院医学遗传科 [2]柳州市出生缺陷预防与控制重点实验室,广西柳州545001

出　　处：《中国优生与遗传杂志》2018年第11期6-8,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z20180044)

摘　　要：孕妇血浆中胎儿游离DNA的发现刺激了非侵入性产前检测的快速发展。最近大规模并行测序的出现使得循环胎儿游离DNA的分析达到了前所未有的灵敏度和精确度。因此,预计基于血浆游离DNA的非侵入性产前检测将在未来的产科护理、产前诊断及遗传咨询中发挥越来越重要的作用。本综述总结了使用胎儿游离DNA进行非侵入性产前检测的最新进展,讨论了遗传咨询的重要性,妊娠期使用胎儿游离DNA筛查的当前指南以及可能影响非侵入性产前检测的具体母亲情况。The discovery of cell free fetal DNA in maternal plasma has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. It is thus expected that plasma DNA-based non-invasive prenatal testing will play an increasingly important role in the future of obstetric care, prenatal diagnosis and genetic counseling. The present review summarizes recent advances in non-invasive prenatal testing using cell free fetal DNA. The importance of genetic counseling, the current guidelines for the use of cffDNA screening in pregnancy, as well as specific maternal conditions that can affect the performance of non-invasive prenatal testing are also discussed in this review.

关 键 词：胎儿游离DNA NIPT 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]