孕中期母血产前筛查36947例先天缺陷的研究

目的:探讨血清标志物甲胎蛋白(AFP)和游离绒毛膜促性腺激素(Free-βhCG)在胎儿先天缺陷筛查中的作用。方法:对孕15～20周妇女进行上述两项血清标志物检测,结合孕妇年龄、孕周、体重、既往妊娠史、有无糖尿病、吸烟等因素,通过产前筛查软件计算风险率;对高风险孕妇进行羊水细胞染色体检查及B超检查;每例受检孕妇追踪到新生儿出生。结果:36947例孕妇中,发现唐氏综合征13例,18-三体综合征6例,染色体其他核型异常3例。结论:孕中期血清AFP、Free-βhCG两项血清标志物联合检测作为筛查胎儿先天缺陷安全可行,能有效降低先天缺陷患儿出生率。

Investigation on 36 947 fetuses with congenital defects in prenatal screening of maternal blood of pregnant women in the second trimester pregnancy

Objective:To explore the function of alpha fetoprotein(AFP)and free human chorionic gonadotropin(Free-β-hCG)in screening of fetal congenital defects.Methods:The serum levels of AFP and Free-β-hCG in pregnant women of 15～20 gestational weeks were detected,then the risk ratio was calculated on prenatal screening software according to maternal age,gestational weeks,maternal weight,history of pregnancy,diabetes or not and smoking;the pregnant women with high risk received chromosomal examination of amniotic fluid cells and type B ultrasonography;all the pregnant women were followed up till delivery.Results:Among 36 947 pregnant women,13,6 and 3 pregnant women were diagnosed as Down's syndrome,18 trisomy syndrome and other abnormal chromosome karyotypes,respectively.Conclusion:The joint detection of AFP and Free-β-hCG can be used to screen fetal congenital defects with safety and feasibility,which may reduce the birth rate of fetus with congenital defects effectively.