化学发光法孕中期三联筛查高危孕妇221例产前诊断结果分析

The clinical value of three-item-combination screening in second trimester by chemiluminescent immunoassay:with the prenatal diagnosis result of 221 high risk person

目的探讨孕中期母血AFP、β-hCG、uE3三联筛查在减少出生缺陷中的应用价值。方法采用化学发光法对孕14-20w的孕妇进行血清学筛查。通过检测母血AFP、β-hCG、uE3三种激素并结合孕妇年龄、孕周、体重等因素,用ACCESS2配套的产前筛查软件综合评价孕中期孕妇之胎儿患21-三体综合征、18-三体综合征和神经管缺陷的风险度。对其中筛查高危的孕妇进行产前诊断,并对产前诊断临床资料进行回顾分析。结果在筛查的2834例孕妇中,风险度超过筛查标准的共221人,其中21-三体综合征高危妊娠179例,筛查阳性率为6.33%,18-三体综合征高危妊娠28例,筛查阳性率为0.98%,经过羊水染色体核型分析,出生缺陷监测和新生儿外周血染色体核型分析,共确诊3例21-三体综合征患儿,未见18-三体综合征患儿。检出神经管缺陷高危妊娠14例,筛查阳性率为0.5%,均经过彩超检查,共检出3例神经管缺陷胎儿。结论化学发光法孕中期三联筛查对于诊断胎儿染色体病及神经管缺陷具有重要的临床价值,可有效降低染色体病及神经管缺陷患儿的出生率,并对预测不良妊娠结局具有一定的应用价值。

Objective：To evaluate the effect of the serum markers of AFP,β-hCG,and uE3 on screening of congenital fetal abnormality in the pregnant women at second trimester.Methods： The serum markers were measured at second trimester of gestation with chemiluminescent immunoassay,and were combined with correlation factors such as the age,gestational weeks and the weight of pregnant women,to estimate the probability of fetus suffering from Down′s syndrome,neural tube defect and Trisomy 18 syndrome.Cell chromosomes and ultrasonography were also done in high risk patients.Analysis was carried out based on the results of follow up survey.Results： There were 221 cases resulted high risk,in which the positive rates of Down′s syndrome,neural tube defect and Trisomy18 syndrome were 6.33%,0.98% and 0.5% respectively.After the prenatal diagnosis,we found 3 fetus suffered form Down′s syndrome,3 fetus suffered form neural tube defect.No Trisomy 18 syndrome fetus been found.Conclusion： The combined screening is reliable and effective,and is the important measure to reduce birth deficiencify combined with prenatal diagnosis.