孝感市唐氏筛查在产前诊断中应用分析

Application analysis of Down syndrome screening for prenatal diagnosis in Xiaogan

目的分析2007—2011年孝感市唐氏综合征产前筛查在产前诊断中应用情况。方法对2007—2011年孝感市二级以上医疗机构唐氏筛查的筛查方法、筛查率及筛查和妊娠结果进行统计分析,对未进行染色体核型分型的高风险孕妇和低风险孕妇进行随访。结果至2011年12月底孝感市共9家医疗机构开展孕产妇唐氏筛查,2007—2011年孝感市孕产妇符合筛查数和参加唐氏筛查数呈上升趋势(P<0.01);唐氏筛查高风险孕妇以35岁以下为主,其中年龄>25～29岁占56.85%;唐氏筛查高风险占筛查人数的5.57%(934/16 780),唐氏筛查高风险孕妇不良妊娠结局比率明显高于低风险孕妇(P<0.01),不良妊娠结局血清甲胎蛋白中位数倍数明显低于正常妊娠者(P<0.01),血清游离β绒毛膜促性腺激素中位数倍数明显高于正常妊娠者(P<0.01);唐氏筛查检出率为73.91%,假阳性率为5.46%,假阴性率为0.38‰。结论加强和完善出生缺陷的二级预防机制是目前孝感市产前诊断工作的重点。

Objective To analyze the application of Down syndrome （DS） screening in prenatal diagnosis in Xiaogan from 2007 to 2011. Methods The screening method, screening rates, and screening and pregnancy results were analyzed in the second-level or higher medical institutions in Xiaogan from 2007 to 2011. And the high-risk pregnant women with no chromosome karyotyping and the low risk pregnant women were followed up. Results DS screening was carried on in 9 medical institutions in Xiaogan by the end of 2011. The number of pregnant women accord with DS screening standard and undergoing DS screening showed an increasing tendency in Xiaogan from 2007 to 2011 （P〈0.01）. The high-risk pregnant women receiving DS screening was mainly under the age of 35 years, in which the pregnant women aged from 25 to 29 years accounted for 56. 85%. The number of high-risk pregnant women accounted for 5. 57% in the total DS screening pregnant women （934/]6 780）. The abnormal pregnancy rate was significantly higher in high-risk pregnant women than that in low-risk pregnant woman （P〈0.01）. The multiple of the median of serum alpha-fetoproteins was significantly lower and the multiple of the median of free β chorionic-gonadotropin hormone was significantly higher in abnormal pregnant women than that in normal pregnant women （P〈0.01）. DS screening detection rate was 73.91%. The false positive rate was 5.46 %. The false negative rate was 0. 38‰. Conclusion To strengthen and improve the twolevel mechanism of preventing birth defects is the focus of prenatal diagnosis in Xiaogan.