昆明地区孕中期孕妇产前筛查9137例分析

Analysis of prenatal screening 9137 cases in mid-pregnant women

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(Total-βhCG)、游离雌三醇对孕中期妇女进行胎儿唐氏综合征(Downssyndrome,DS)为主的先天缺陷筛查的价值。方法对孕14～21w妇女进行上述三项血清标志物检测,结合母龄、孕周、体重等因素,经过软件计算风险率,对高危孕妇进行羊水细胞染色体检查及B超进行确诊。每例受高危筛查孕妇追踪到胎儿出生。结果 9137例孕妇中,阳性率5.94%。筛查出DS高危365例,阳性率3.99%胎儿神经管畸形高危85例,阳性率0.93%,18-三体综合征高危93例阳性率1.02%,羊水细胞染色体检查及B超进行确诊4例。低危中发现唐氏综合征1例。结论利用孕妇孕中期三种血清标志物的检测,对胎儿先天缺陷产前筛查尤其是开放性神经管缺陷及胎儿染色体异常等筛查,是重要有效手段之一;产前筛查在降低围产儿死亡率,降低出生缺陷率具有重要意义。

Objective：To research the effect of the maternal serum markers of Alpha-fetoprotein （AFP）,human chorionic gona dotrophin （Total-β-hCG）,liberation Estriol in the congenital fetal abnormality screening such as Downs Syndrome in mid-pregnancywomen.Methods：9137cases between 14 and 21 weeks＇gestational age were detected with electrochemiluminescence actual immunity analysator （Backman Coulter acessce） and combined with the maternal age,week and weight.The risk rateswere calculated with prenatal screening risk analysis software.The high risk women by measuring the highrisk rate were diagnosesd by the amniotic fluid cell chromosomes and B-ultrasonography. Each case was followed till the fetus Born.Results：In 9137 cases ,the positive rate was 5.94% （543 cases） with 3.99% （365cases） of Downs syndrome and 0.93% （85cases） of NTD and 1.02% （93cases） of 18-trisome syndrome.4 congenital fetal were diagnosesd by the amniotic fluid cell chromosomes and B-ultrasonography.One lowrisk womem born a baby of Down＇s syndrome.Conclusion：The combination of the serum biochemistry results of AFP,Total-beta-hCG can and liberation Estriol be usefulmarkers It is effective to detect Down＇s syndrome and can decrease congenital fetalmalformation.