孕中期母血清学产前筛查的临床价值

On the clinical value of mother serological prenatal screening during the second trimester of pregnancy

目的探讨孕中期产前筛查在减少出生缺陷中的应用价值。方法采用时间分辨荧光免疫法,检测孕15～20w孕妇血清甲胎蛋白（AFP）、游离-β-绒毛膜促性腺激素（Free-β-h CG）水平,结合孕妇年龄、孕周、体重等因素,计算胎儿患唐氏综合征、18-三体综合征及开放性神经管缺陷（ONTD）风险率,高风险孕妇进行产前诊断。结果 7128例孕妇筛查出高风险244例,高风险率3.42%,唐氏综合征、18-三体综合征及ONTD高风险率分别为2.26%、0.44%、0.73%;接受产前诊断138例,确诊唐氏综合征2例、ONTD1例、其他异常13例,产前确诊异常者知情自愿选择终止妊娠。低风险的孕妇分娩1例唐氏综合征。结论产前筛查结合产前诊断可有效降低出生缺陷率。

Objective：To explore the clinical application value of prenatal screening in terms of reducing birth defect during the second trimester of pregnancy. Methods：Use the method of time-resolved fluoroimmunoassay to detect the pregnant women＇s level of alpha fectoprotein and free-β-human chorionic gonadotropin;calculate the fetuses＇ risk rate of Down＇s syndrome,trisomy 18 syndrome and open neural tube defect considering the factors of pregnant women＇s age,weight and weeks of pregnancy so as to encourage them to have a prenatal diagnosis. Results：Among 7128 cases receiving prenatal screening,244 cases were found with high risk rate and the positive rate was 3.42%;the positive rates of Down＇s syndrome,trisomy 18 syndrome and ONTD syndrome were 2.26%,0.44% and 0.73% respectively;138 cases were received prenatal examination;2cases were diagnosed definitely with Down＇s syndrome;1 case was diagnosed definitely with ONTD;13 cases were diagnosed with other abnormalities,so their pregnancy was abolished. There was 1case of Down＇s syndrome on the delivery of lower risk women. Conclusion：The rate of birth defect can be effectively reduced by prenatal screening combined with prenatal diagnosis.