孕中期血清标志物在筛查唐氏综合征中的意义

目的: 探讨孕妇血清标志物甲胎蛋白(AFP) 和游离绒毛膜促性腺激素(Free-βhCG) 对孕中期妇女进行胎儿唐氏综合征(Down'ssyndrome, DS) 为主的先天缺陷筛查的作用。方法: 对孕14 ~20周妇女进行上述2项血清标志物检测,结合母龄、孕周、体重等因素, 经过软件计算风险率, 对高风险孕妇进行羊水细胞染色体检查及B超进行确诊。每例受检孕妇追踪到出生。结果: 2 776例孕妇中, 发现DS1例, 18-三体综合征2例, 其它胎儿异常12例。结论: 孕中期血清AFP、Free-βhCG2项血清标志物联合检测, 作为筛查胎儿先天缺陷可行, 能降低先天缺陷患儿出生率5. 40‰。

The effect of prenatal screening in mid- pregnancy for decreasing the congenital malformation fetus

Objective:To research the effect of the maternal serum markers of Alpha-fetoprotein (AFP), human chorionic gonadotrophin (free beta-hCG) in the congenital fetal abnormality secreening such as Down's Syndrome in mid-pregnancy women.Methods:Serum secreening of AFP and beta-hCG were offered to the 14-20 weeks pregnant women and combined with the maternal age, week and weight to detect the amniotic fluid cell chromosomes and ultrasonography in high risk women by measuring the high risk rate with special software. Each case was followed till the fetus Born.Results:There were 1 case of DS, 2 cases of 18-trisomy and 11 cases of other fetal abnormality between 2776 pregnant women.Conclusion:The combination of the serum biochemistry results of AFP and free beta-hCG can be useful markers to detect Down's syndrome and can decrease 5.40‰ of congenital fetal malformation.