妊娠中期妇女唐氏筛查及产前诊断结果分析  

ANALYSIS OF THE RESULTS OF DOWN’S SYNDROME SCREENING AND PRENATAL DIAGNOSIS FROM WOMEN DURING MIDTRIMESTER PREGNANCY

作　　者：肖岩岩[1] 张战红[2] 孙越[2] 

机构地区：[1]青岛大学医学院,山东青岛266021 [2]青岛市妇女儿童医疗保健中心产科

出　　处：《齐鲁医学杂志》2009年第3期256-257,260,共3页Medical Journal of Qilu

基　　金：青岛市科技发展计划资助项目(07-2-1-16-nsh)

摘　　要：目的探讨妊娠中期妇女唐氏筛查对于严重先天性缺陷儿宫内诊断的临床价值以及不同高风险值诊断阳性率的差别。方法采用时间分辨免疫荧光法(DELFIA)对37267例妊娠中期妇女进行血清甲胎蛋白和游离β绒毛膜促性腺激素检测,应用Multicalc软件计算出风险值。高风险孕妇经遗传咨询,知情同意,自愿选择行产前诊断。结果37267例孕妇中筛查出高风险孕妇2401例,阳性率为6.44%,其中唐氏综合征高风险孕妇2066例,789例(羊水463例,脐血326例)接受产前诊断,发现胎儿染色体异常38例,异常检出率为4.82%,其中唐氏综合征12例,18三体综合征1例。不同高风险值范围孕妇诊断阳性率差异无显著性(P>0.05)。结论产前筛查对于严重先天性缺陷儿的宫内诊断具有重要的临床价值,高风险是指导产前诊断的确切指征。Objective To assess the clinical significance of screening of women in their midtrimester with Down＇s syndrome in prenatal diagnosis of severe congenital defect fetus and the difference of positive rate of diagnosis between different highrisk value. Methods Levels of serum AFP and free-β-HCG of 37 267 women during their midtrimester were detected via timedistinguished fluorescence immunoassay. Down＇s syndrome risk value was calculated with Multicalc software. All those at high risk received genetic consults and signed a consent form for prenatal diagnosis. Results Of the 37 267 women examined, 2 401 were at high risk, the positive rate was 6.44%, with 2 066 being of high risk of Down＇s syndrome, of whom, 789 underwent prenatal diagnosis, and abnormal fetal chromosome was found in 38 cases, the detection rate being 4. 82%, which included 12 cases of Down＇s syndrome, and one case of 18-trisome syndrome. There is no significant difference in the positive diagnosis in different high-risk groups （P〉0.05）. Conclusion Prenatal screening is of great importance of prematal detection of severe congenital defect, high risk is an absolute indication for prenatal diagnosis.

关 键 词：遗传筛查 产前诊断 畸形 

分 类 号：R714[医药卫生—妇产科学]