孕中期唐氏综合征三联筛查筛查效率分析.docVIP

孕中期唐氏综合征三联筛查筛查效率分析 　　[摘要] 目的 了解淄博市孕中期胎儿唐氏综合征的发生率，探讨孕中期血清学三联筛查策略仅仅针对唐氏儿的筛查效率，评价孕中期唐氏综合征三联筛查的临床应用价值。方法 采用时间分辨免疫荧光法对9 061例孕中期妇女的血清AFP、Free-β-HCG、uE33项指标进行检测，结合孕妇年龄、体重、孕周等因素，利用lifecycle 3.0软件计算胎儿患唐氏综合征的风险率，以1∶270作为高风险的切割值，并通过行无创产前检测、FISH或者羊水胎儿细胞染色体核型分析等技术对高风险孕妇给予确诊，对所有参与筛查孕妇的妊娠结局进行追访。 结果 ①淄博市孕中期胎儿唐氏综合征发生率约为1/824，与文献报道活产新生儿唐氏儿发生率基本一致。②高龄孕妇（预产年龄≥35 岁）怀有唐氏儿的机率较高约为1/172，不宜再进行产前筛查，应直接行无创产前检测或介入性产前诊断。③该筛查策略针对唐氏儿的检出率为72.7%，假阳性率为4.6%， 筛查效率为1/53。结论 该筛查策略在唐氏儿筛查方面临床应用价值较高，筛查软件中的参数适合淄博市孕中期妇女，但应结合增加筛查指标（NT、InhA）或者进行早中孕联合筛查的策略，进一步提高筛查效率。 　　[关键词] 唐氏综合征；游离雌三醇；检出率；假阳性率；筛查效率 　　[中图分类号] R714.55 [文献标识码] A [文章编号] 1674-0742（2015）03（a）-0186-03 　　Analysis of Triple Prenatal Serum Screening for Down Syndrome During the Second Trimester Pregnancy 　　XU Jia LIU Yi MOU Kai 　　Prenatal Diagosis Center， Zibo maternal and child health hospital， Zibo， Shandong Province， 255000 China 　　[Abstract] Objective To explore the efficiency of triple serum screening of alpha- fetotrotein（AFP）， free β-human chorionic gonadotropiin （f-β-HCG） and unconjugated estriol （uE3） for Down syndrome （DS） during the second trimester pregnancy. Methods Serum AFP， fβ-HCG and uE3 of 9061 singleton pregnant women were detected by time-resolved fluorescence immunoassay and analyzed by lifecycle3.0 software. Triple serum screening were employed to evaluate fetal degrees of DS risk. Screening positive rates， detective rates， false positive rates and Odds of being affected given a positive result （OAPR）？ were analyzed. Results The incidence of Down syndrome during the second trimester pregnancy in zibo is about 1/824 which in accordance with literature reports. Therein， the incidence of Down syndrome in advance age pregnant women（above 35 years） is about 1/172. The detective rates， false positive rates and OAPR for DS is about 72.7%， 4.6% and 1/53 respectively in using triple serum screening. Conclusion The triple serum screening strategy has a higher clinical value for Down syndrome during the second trimester pregnancy. The