中孕期母血清甲胎蛋白异质体L2和L3筛查胎儿唐氏综合征的临床价值  

Clinical value of maternal serum alpha fetoprotein heterostructure L2 and L3 in screening for Down's syndrome in second trimester

作　　者：陈益明 卢莎 连结静 梅瑾 顾琳媛 张艳珍 张闻 褚雪莲 王昊 王敏 CHEN Yiming;LU sha;LIAN Jiejing(Department of Prenatal diagnosis and screening center,Hangzhou Women’s Hospital (Hangzhou Maternity and Child Health Care Hospital),Hangzhou 310008,China)

机构地区：[1]杭州市妇产科医院(杭州市妇幼保健院)产前诊断(筛查)中心,310008 [2]杭州市余杭区妇幼保健院产前筛查中心

出　　处：《浙江医学》2019年第1期27-30,39,共5页Zhejiang Medical Journal

基　　金：浙江省自然基金公益技术研究计划/社会发展(LGF19H040006);杭州市卫生科技计划项目(2017A55)

摘　　要：目的评价中孕期母血清甲胎蛋白异质体L2和L3(AFP-L2、AFP-L3)筛查胎儿唐氏综合征(DS)的临床价值。方法收集经羊水细胞染色体核型分析确诊为DS胎儿的孕妇88例(病例组)和胎儿发育正常的孕妇61例(对照组)。采用酶联免疫法检测两组孕妇血清的AFP-L2和AFP-L3水平。用ROC曲线确定最佳临界值、AUC,并对AFP-L2和AFP-L3的筛查效能进行评价。结果病例组的AFP-L2和AFP-L3水平均高于对照组,差异均有统计学意义(均P<0.01)。AFP-L2和AFP-L3筛查DS胎儿的AUC=0.891(95%CI:0.841～0.941)和0.824(95%CI:0.756～0.891)。采用不同建模方式比较,以AFP-L2+AFP-L3+freeβ-HCG筛查DS胎儿的AUC最高=0.929 (95%CI:0.861～0.975)。不同建模方式AUC的高低顺序是以AFP-L2+AFP-L3+freeβ-HCG>AFP-L2+freeβ-HCG>AFP-L3+freeβ-HCG>AFP+freeβ-HCG。结论中孕期母血清AFP-L2和AFP-L3的筛查DS胎儿具有较高的灵敏度和特异度,是筛查DS的较好标志物,联合筛查效能优于单独筛查,并以AFP-L2+AFP-L3+freeβ-HCG联合筛查效能最高。Objective To evaluate the clinical application of maternal serum alpha fetoprotein heterostructure L2 and L3(alpha fetoprotein variants,AFP-L2,AFP-L3)in screening for Down's syndrome in the second trimester.Methods Eighty eight pregnant women with Down's syndrome(DS)fetuses diagnosed by amniocentesis and karyotyping and 61 pregnant women with normal fetal development(control group)were enrolled in the study.AFP-L2 and AFP-L3 levels in maternal serum were measured with Enzyme-linked immunosorbent assay(ELISA).The ROC curves were plotted and the area under the curve(AUC)was calculated.Results Serum AFP-L2 and AFP-L3 levels of women with DS fetuses were significantly higher than those of control group(respectively,P<0.01).AUC of AFP-L2 and AFP-L3 in women with DS fetuses were 0.891(95%CI:0.841~0.941,P<0.01)and 0.824(95%CI:0.756~0.891,P<0.05).respectively.Compared with different combinations,the highest AUC value screening for DS fetuses was 0.929 by the method of AFP-L2 combining with AFP-L3 and freeβ-HCG(95%CI:0.861~0.975,P<0.01).The AUC values of different combinations:AFP-L2+AFP-L3+freeβ-HCG>AFP-L2+freeβ-HCG>AFP-L3+freeβ-HCG>AFP+freeβ-HCG.Conclusion The maternal serum AFP-L2 and AFP-L3:levels are increased in pregnant women with DS fetuses in the second trimester.The combination of AFP-L2,AFP-L3 combined with freeβ-HCG shows the highest efficiency for screening of DS in pregnant women.

关 键 词：中孕期 母血清产前筛查 甲胎蛋白 甲胎蛋白异质体(AFP-L2、AFP-L3) 唐氏综合征 筛查效率 

分 类 号：R714.5[医药卫生—妇产科学]