无创DNA检测在唐氏综合征产前筛查中的作用  

Role of Non - Invasive Detection of DNA in Prenatal Screening for Down's Syndrome

作　　者：侯朝晖[1] 刘华平[1] 陈冰[1] 李秀军[1] 任东平[1] 任力[2] 郭晓东[3] 

机构地区：[1]空军总医院妇产科,北京100142 [2]空军总医院病理科,北京100142 [3]解放军第302医院,北京100039

出　　处：《现代生物医学进展》2013年第8期1508-1510,共3页Progress in Modern Biomedicine

摘　　要：目的:通过比较无创DNA检测和孕中期血清学筛查两种方法的筛查阳性率,从而肯定无创DNA检测在唐氏综合征产前筛查中的实用价值。方法:对500例单胎孕妇进行血清标记物(AFP+β-HCG)二联指标检测,应用配套软件计算唐氏综合征风险;对496例孕妇外周血中的游离DNA片段(含胎儿游离DNA)进行高通量测序,并将测序结果进行生物信息学分析,得出胎儿发生染色体非整倍体的风险率,并追踪胎儿和孕妇的情况。结果:唐氏综合征血清筛查组高危孕妇22例、阳性率为4.4%,假阳性率4.2%;无创DNA检测组筛查阳性孕妇3例,阳性率为0.6%,唐氏综合征检出率为100%。两种方法用于唐氏综合征产前筛查的差异有显著性(P<0.01)。结论:无创DNA检测适用范围广、准确率高,是产前筛查是唐氏综合征的有效方法。Objective： To compare the non-invasive detection of DNA and second trimester serum screening positive rate of screening of two methods, which must be non-invasive detection of DNA in prenatal screening for Down＇s syndrome practical value. Methods： 500 cases single fetal pregnant women were detected respectively serum mark object （ afp＋ beta -hcg ）, using sofrware to calculate the risk of Down＇s syndrome. 496 cases of pregnant women were chosen to detect the free DNA fragment of peripheral blood （ with fetal free DNA ） was sequenced and analyzed, then fetal chromosome aneuploid of risk rate was obtained, and followed up fetal and pregnant women. Results： Serum screening for Down＇s syndrome group of 22 patients with high risk pregnant women, the positive rate was 4.4%, a false positive rate of 4.2%; non-invasive detection of DNA groups screen-positive pregnant women in 3 cases, the positive rate was 0.6%, Down＇s syndrome detection rates was 100%. There were significant differences of prenatal screening for Down＇ s syndrome by these two methods （ P 〈 0.01 ）. Conclusions： Non - invasive detection of DNA application of a wide range, high accuracy, and it was an effective method of prenatal screening of Down＇s syndrome.

关 键 词：唐氏综合征(clown'ssyndrome DS) 胎儿游离DNA(cell-freefetal DNA cffDNA) 无创DNA检测 

分 类 号：R714.256[医药卫生—妇产科学]