孕早中期血清学检测指标联合筛查胎儿唐氏综合征的应用探讨  

Study and apply of the combined the first trimester with the second trimester maternal serum screening markers for Down's syndrome

作　　者：陈熙[1] 肖克林[1] 熊礼宽[1] 梁卉[1] 邵聪文[1] 蓝慧娟[1] 

机构地区：[1]深圳市宝安区妇幼保健院中心实验室,518133

出　　处：《中国计划生育学杂志》2016年第7期476-478,共3页Chinese Journal of Family Planning

基　　金：深圳市宝安区科技计划资助项目(2014079);深圳市出生缺陷研究医学重点实验室资助

摘　　要：目的:比较孕妇早中孕血清学联合筛查方案与传统血清学筛查方案,探讨胎儿唐氏综合征联合筛查模式的效率。方法:回顾性选择例行产前检查且有回访结局的孕妇资料,早孕期和中孕期均进行了两个阶段的血清学筛查,早孕筛查采用二联法检测(PAPP-A、Freeβ?hCG),中孕筛查采用三联法检测(AFP、Freeβ?hCG和uE3)。早中孕联合筛查模式采用四联筛查方案,即将孕妇在孕中期三联检测的数据匹配其孕早期检测的数据,联合计算筛查风险值,以羊水染色体核型分析和追踪随访的妊娠结局为金标准做回顾性分析。结果:共计7559例孕妇,早孕筛查或中孕筛查有≥1次高风险孕妇341例,早中孕联合筛查评估的高风险孕妇为157例,联合筛查方案与阶段筛查方案的检出率均为87.5%(14/16),早中孕联合筛查的假阳性率为1.9%(143/7543),传统血清学筛查的假阳性率为4.34%(327/7543),差异有统计学意义(Fisher确切概率法,P<0.001)。结论:早中孕联合筛查与传统的阶段筛查方案相比,检出率一致,但假阳性率明显减低,可有效减少侵入性产前诊断的实施率。Objective：To compare the efficacy of the first trimester combined with second trimester maternal serum markers with traditional maternal serum screening markers to screen Down＇s syndrome.Method：7,559 cases of pregnant women with pregnancy outcome were retrospectively analyzed from January 2012 to June 2014.The participants were performed the first and the second trimester maternal serum screening as traditional serum screening method.The first trimester maternal serum screening had used maternal serum duplex screening markers（detecting PAPP A,FreeβhCG）;the second trimester maternal serum screening had used maternal serum triple screening markers（detecting AFP,FreeβhCG and uE3）.Combined the first trimester with the second trimester maternal serum had used maternal serum quadruple screening markers to calculate the risk value,which included AFP,FreeβhCG and uE3 of the second trimester screening markers and PAPP A of the first trimester screening markers.The amniotic chromosomal karyotype and the outcome of pregnancy were applied as the gold standard.Result：In the 7,559 cases,341cases were detected with high risk in either first or second trimester screening,while the combined screening reported 157 cases with high risk.The detection rates（DR）of the combined screening method and the traditional screening method were the same（87.5%,14/16）.The false positive rates of the combined screening method and the traditional screening method were 1.9%（143/7543）and 4.34%（327/7543）,respectively,which difference had statistical significance（Fisher＇s exact test,P 〈0.001）.Conclusion：Compared to the traditional screening method,the combined first trimester and second trimester maternal serum screening method can achieve similar DR,but can decrease false positive rate significantly.

关 键 词：血清学筛查 联合筛查 产前诊断 唐氏综合征 

分 类 号：R714.5[医药卫生—妇产科学]