东莞地区唐氏综合征筛查临床分析  

Analysis of Down′s syndrome screening in Dongguan area

作　　者：魏海云[1] 苏玲君[2] 朱梓年[2] 

机构地区：[1]东莞市人民医院产前诊断中心,广东东莞523039 [2]东莞市人民医院检验科,523039

出　　处：《中国优生与遗传杂志》2016年第6期36-36,48,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的总结并探讨东莞地区唐氏征筛查现状,以便更好的提高唐氏筛查的准确率。方法采用化学发光的方法,对35 460例孕中期唐氏三联筛查孕妇的唐氏征结果进行分析,与其他地区进行比较,筛查高风险和临界风险的孕妇再进一步通过无创基因筛查或羊水穿刺等产前诊断手段进行结果的验证。结果经过数据的统计分析,共筛查出唐氏综合征高风险孕妇1596例,在通过羊水穿刺和无创基因筛查检出62例染色体异常胎儿。结论通过我们的研究,提示无创基因筛查是一项可行的准确率很高的唐氏征筛查手段,值得临床推广。Objective：To explore the status of Down′s syndrome screening in Dongguan area,in order to better enhance the accuracy of Down′s syndrome screening. Methods：With the method of chemiluminescence,analysis of the down′s screening in 35 460 cases of pregnant in the middle period. Screening high-risk pregnant women and critical risk further by noninvasive prenatal diagnosis means such as genetic screening or an amnio validation results. Results：Through data statistical analysis,screening the high-risk pregnant women,1596 cases of down′s syndrome,through amniotic fluid puncture and noninvasive genetic screening fetus detected 62 cases of chromosomal abnormalities. Conclution：Through our research,suggesting noninvasive genetic screening is a highly feasible accuracy of down syndrome screening,worth clinical promotion.

关 键 词：唐氏征筛查 无创基因 孕中期 

分 类 号：R714.5[医药卫生—妇产科学]