摘要
目的：探讨孕妇中期唐氏筛查联合外周血游离胎儿DNA检测的临床意义。方法：用时间分辨免疫荧光法对15～20＋6周的孕妇进行中期血清学筛查,并对筛查为高危的孕妇采用大规模平行测序法对母体外周血中游离胎儿DNA进行染色体非整倍体检测。结果：产前血清筛查10 065例,筛查出高危孕妇752例,其中678例高危孕妇进行了游离胎儿DNA检测,共检出10例染色体数目异常,结构异常4例,共14例异常,对14例异常孕妇提供了免费的羊水染色体核型分析,其余664例回访,其中2例结果不一致;游离胎儿DNA检测总准确率为99.7%（676/678）。结论：唐氏筛查和外周血游离胎儿DNA检测联合检测,可预防和减少唐氏儿及其他缺陷儿的出生,对提高国民素质十分重要。
Objective：To investigate the clinical significance of combined detection of the interim of Down’s screening in pregnant women and blood free fetal DNA screening. Method：Pregnant women in 15-20＋6 weeks were test of Down’s syndrome by time resolved immunofluorescence. High-risk groups were further tested of free fetal DNA from mother’s blood by gene sequencing.Result：10 065 pregnant women received Down’s screening,and 752 cases were estimated to be high-risk.At last 678 cases received the fetal DNA gene sequencing.14 cases were confirm chromosome abnormalities,including 10 number abnormal and 4 cases of structure abnormalities.The total 14 cases were detected of chromosome analysis from amniotic fluid cells,the other 676 cases were followed up,the results showed that two cases were not according with the NDA investigation,the total accuracy rate was 99.7%（676/678）.Conclusion：Combined detection of Down’s screening and mother blood free fetal DNA test is effective in reducing the birth defects.
出处
《中外医学研究》
2014年第12期57-58,共2页
CHINESE AND FOREIGN MEDICAL RESEARCH
关键词
唐氏筛查
游离DNA检测
联合筛查
Down’s screening
Free fetal DNA screening
Combined detection
