孕妇外周血游离胎儿DNA诊断胎儿染色体异常的研究进展  

Progress of research on diagnosis of fetal chromosomal abnormalities by detecting the cell - free fetal DNA in maternal plasma

作　　者：陆蓉[1] 许建娟[1] 

机构地区：[1]南京医科大学附属无锡市妇幼保健院,214002

出　　处：《中国优生与遗传杂志》2013年第8期1-3,共3页Chinese Journal of Birth Health & Heredity

摘　　要：胎儿染色体异常是我国当前控制和预防出生缺陷的重点目标疾病。近年来开展的孕妇外周血游离胎儿DNA(cell-free fetal DNA,cff DNA)检测这一新技术对诊断胎儿染色体异常具有很高的敏感性和特异性,是对原有产前筛查和产前诊断技术的有效补充。本文就孕妇外周血游离胎儿DNA诊断胎儿染色体异常的研究进展进行综述。Fetal chromosomal abnormalities is a focused disease that our country pay most attention to control and prevent birth defects at present.In recent years,the new technology carried out in maternal plasma cell-free fetal DNA（cffDNA） detection has high sensitivity and specificity for the diagnosis of fetal chromosomal abnormalities.It is an effective complement to the original prenatal screening and prenatal diagnosis.This paper reviews the progress of research on diagnosis of fetal chromosomal abnormalities by detecting the cell-free fetal DNA in maternal plasma.

关 键 词：游离胎儿DNA 唐氏综合征 无创性产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]