三种产前筛查方法的对比研究  

Comparison of different strategies in prenatal screening for Down′s syndrome

作　　者：唐华[1] 王华[1] 周莹[1] 唐汪澜 谢琼[1] 

机构地区：[1]湖南省妇幼保健院产前诊断中心,长沙410008

出　　处：《中国优生与遗传杂志》2011年第3期49-50,41,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕早期、中期和整合筛查对唐氏综合征筛查对检出胎儿染色体异常和妊娠不良结局的实用价值。方法应用时间分辨荧光免疫法对7802例孕9周～13+6周和11 911例孕15周～20+6周妇女进行血清标记物妊娠相关蛋白(PAPP-A)和游离β绒毛膜促性腺激素(freeβ-HCG)或甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(freeβ-HCG)和游离雌三醇(uE3)进行检测,并对其中1014例孕妇进行整合筛查。筛查结果应用Lifecycle3.0软件计算唐氏综合征风险。唐氏综合征风险切割值为1∶270,当其值≥1∶270时为唐氏高危孕妇,于孕16周以后抽羊水或脐血进行胎儿核型分析,追踪胎儿和孕妇的情况。结果产前筛查19 713例孕妇,唐氏综合征筛查阳性孕妇1059例,假阳性率为5.37(1059/19713)。有607例接受了羊水或脐血穿刺产前诊断,占总筛查高危孕妇的57.32%(607/1059)。发现胎儿染色体异常24例,异常检出率为3.95%(24/607),其中4例唐氏综合征,3例18-三体,17例其他染色体异常,5例NTD畸形在孕中期筛查中发现。1例唐氏综合征在出生后被证实。三种筛查方法的假阳性率分别为:5.79%,5.10%,4.04%。结论三种筛查方法间存在显著性差异(P<0.05),整合筛查的假阳性率低于孕早期和孕中期筛查,如果有条件,我们推荐选择整合筛查。Objective：To assess and compare the effectiveness of three different strategies for prenatal screening for Down′s syndrome（the first trimester test,the second trimester test,and the integrated test） and to determine the most useful way for Down′s syndrome screening.Methods：serum PAPP-A and free β-HCG levels of 7802 pregnant women with 9～13＋6 weeks and serum AFP and free β-HCG and free uE3 levels of 11 911 pregnant women with 15～20＋6 weeks were detected by time-distinguished fluorescence immunoassay.Down′s syndrome risk value was calculated with lifecycle 3.0 software,with cut-off value of 1∶270.The pregnant women whose value bigger than 1∶270 would be as high risk of Down′s syndrome and needed to have the cordocentesis for fetal karyotype.Results：19 713 pregnant women accepted the Down′s syndrome screening,1059 of which were detected positive for Down′s syndrome with false positive rate of 5.37%（1059/19713）.607 cases received fetal karyotype,accounting for 57.32%（607/1059）,detecting abnormal fetal chromosome in 24 cases with detecing rate 3.95%（24/607）,including 4 cases of Down′s syndrome and 3 cases of 18-trisome.Beside this,5 neural tube defects cases were found in the second trimester test.1 case of Down′s syndrome was confirmed after birth.The three different strategies′（the first trimester test,the second trimester test,and the integrated test） false positive rate were：5.79%,5.10%,4.04%.Conclusion：The integrated test was better than the first trimester test and the second trimester test.

关 键 词：唐氏综合征 产前筛查 整合筛查 

分 类 号：R714.5[医药卫生—妇产科学]