早孕期母血清PAPP-A联合中孕期二联产前筛查唐氏综合征和开放性神经管缺陷效率  

Efficacy of maternal serum PAPP-A detection in first trimester combined with dual-marker screening test in second trimester in screening for Down's syndrome and open neural tube defect

作　　者：陈益明 褚雪莲 卢莎 顾琳媛 王芳[2] 张闻 CHEN Yi-ming;CHU Xue-lian;LU Sha(Department of Prenatal Diagnosis/Screening Centre, Hangzhou Municipal Obstetrics and Gynecology Hospital （Maternal and Child Health Hospital）, Hangzhou, Zhejiang Province 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,浙江杭州310008 [2]杭州市余杭区妇幼保健院产前筛查中心

出　　处：《中国公共卫生》2018年第7期961-964,共4页Chinese Journal of Public Health

基　　金：2018年浙江省医药卫生学科平台项目(临床研究ZD036);杭州市卫生科技计划(一般)项目(2017A55);杭州市余杭区医疗卫生科研项目(2014-医疗卫生-20)

摘　　要：目的了解早孕期母血清妊娠血浆相关蛋白A(PAPP-A)联合中孕期二联法产前筛查胎儿唐氏综合征(DS)和开放性神经管缺陷(ONTD)的筛查效率。方法回顾性分析2014年7月-2016年12月分别于早孕期和中孕期在浙江省杭州市余杭区妇幼保健院产前筛查中心进行血清学产前筛查检测的46 089例孕妇资料,早孕筛查采用PAPP-A,中孕筛查采用二联法检测(AFP、freeβhCG)。早中孕期联合筛查采用三联筛查方案(PAPP-A、AFP和freeβhCG),联合计算DS和ONTD的筛查风险率。并以随访妊娠结局及孕妇羊水细胞染色体核型分析结果来明确诊断。结果早孕期血清筛查灵敏度为66.67%,早中孕期整合血清筛查灵敏度为83.33%,参加单独中孕期血清筛查灵敏度为100%,三者筛查方案比较差异无统计学意义(X^2=0.540,P=0.463);参加单独中孕期血清筛查1例和参加早中孕期整合血清筛查6例孕妇其血清学筛査ONTO结果均为低风险,灵敏度均为0。结论 DS早中孕期联合血清筛查方案优于单独早孕期血清筛查方案,但差异不明显;血清学筛查对ONTO的筛查效果不佳。Objective To assess the efficacy of maternal serum pregnancy associated plasma protein-A （PAPP-A） in first trimester combined with detections of maternal serum alpha fetoprotein （AFP） and free β subunit of human chorionic gonadotropin （free β-hCG） in second trimester for screening Down syndrome （DS） and open neural tube defect （ONTD）.Methods We analyzed clinical data on 46 089 pregnancies in prenatal screening centre of Yuhang district of Hangzhou Maternity and Child Health Care Hospital in Zhejiang province from July 1, 2014 to December 31, 2016, retrospectively. PAPP-A was detected in first trimester and AFP and free β hCG were detected in second trimester for DS screening. The detection results of first and second trimester were combined as a triple-marker of screening to calculate the risk rate of DS and ONTD. We followed pregnancy outcomes and karyotype analysis of amniocentesis to make a definite diagnosis.Results The screening sensitivity was 68.30%, 100%, and 83.33% for the test in first trimester, second trimester, and of triple-marker, without significant difference （χ2=0.540,P=0.463）. Both screening results of dual-marker in second trimester for one case and triple-marker test for 6 cases were low risk of ONTD and the sensitivity of the tests was 0%.Conclusion Triple-marker screening test is better than dual-marker screening test in second trimester; however, the difference is not significant. Serum screening test is not applicable for the screening of ONTD.

关 键 词：血清学筛查 联合筛查 产前诊断 唐氏综合征 开放性神经管缺陷 

分 类 号：R715.3[医药卫生—妇产科学]