内蒙古地区孕中期产前筛查研究分析

ANALYSIS OF PRENATAL SCREENING OF MID PREGNANCY WOMEN IN INNER MONGOLIA REGION

目的:通过对我院孕中期孕妇的血清学筛查结果进行分析,探讨出生缺陷的阳性检出率特征,为最大限度降低出生缺陷率提供产前干预依据。方法:采用全自动时间分辨荧光免疫分析法(DELFIA)对孕中期孕妇血清进行三联筛查,利用美国Lifecycle风险评估软件计算21-三体综合征(Down`s sgndrome DS)、18-三体综合征(Edward)、神经管畸形(neural tube defects NTD)等缺陷在胎儿中的风险率,高风险者进一步行B超检查、羊水核型检测等方法进行诊断处理。结果:本组8100例筛查者中,高风险者共检出251例,阳性率为3.09%,其中21-三体综合征、18-三体综合征和NTD的筛查阳性率分别为2.21%(179/8100)、0.35%(28/8100)和0.54%(44/8100);251例确定高风险者,经产前诊断,结果确认3例21-三体综合征,1例NTD,1例18-三体综合征及1例臂间倒位;对低风险孕妇随访后发现漏筛1例DS。结论:以21-三体综合征(DS)为主的先天缺陷儿发病率较高,孕中期产前血清学筛查是预测出生缺陷的重要手段之一,对于降低出生缺陷率具有重要的临床价值。

Objective： To discuss the positive rate of birth defects through the serological screening results of the pregnant metaphase women in our hospital,and provide prenatal intervention evidence for reducing birth defects. Methods： Full automatic time- resolved fluorescence immunoassay（ DELFIA）was used in serum examination of mid pregnancy women,and using the Lifecycle risk assessment software to calculate the risk rate of 21- three body syndrome（ DS）,18- three body syndrome（ Edward）,neural tube defects（ NTD） and other defects of fetus,ultrasound and amniotic fluid karyotype detection would be done in the pregnant women with high- risk for further diagnosis. Results： 251 cases were detected with high- risk in 8100 cases,the positive rate was 3. 09%. 18 and 21- three body syndrome and NTD screening positive rate was 2. 21%（ 179 /8100）,0. 35%（ 28 /8100） and 0. 54%（ 44 /8100）respectively. Through the prenatal diagnosis,the results confirmed 21- three body syndrome in 3 cases,1 case of NTD,1 case of 13- three body syndrome and 1 case of inversion between the arms in 251 cases with high- risk. 1 case of DS was leakage screen after follow- up for low- risk pregnant women.Conclusion： 21- three body syndrome（ DS） has high incidence of birth defects,mid pregnancy prenatal serological screening is one of the important means to predict birth defects and has important clinical value to reduce birth defects.