2T-Risks和Lifecycle风险计算软件在中孕期唐氏综合征产前筛查中的回顾性研究

目的 探讨2T-Risks和Lifecycle风险计算软件在中孕期唐氏综合征（DS）产前筛查中的临床表现.方法 选择2011年3月1日至2012年5月31日于四川大学华西第二医院产前诊断中心自愿接受中孕期DS三联筛查的11 275例孕妇为研究对象,其年龄为17～34岁,平均为28.90岁（本研究遵循的程序符合四川大学华西第二医院人体试验委员会制定的伦理学标准,得到该委员会批准,产前筛查征得受试对象的知情同意）.收集其年龄、孕龄等基础信息,加之血清甲胎蛋白（AFP）、游离β-人绒毛膜促性腺激素（β-hCG）及游离雌三醇（uE3）水平,结果输入2T-Risks和Lifecycle风险计算软件计算胎儿为21-三体核型、18-三体核型的风险值,并进行回顾性分析.结果 本组11 275例孕妇中,Lifecycle对DS的筛查阳性率为7.1％（803/11 275）,2T-Risks为5.4％（605/11 275）.Lifecycle对18-三体综合征的筛查阳性率为0.08％（9/11 275）,2T-Risks为0.56％（63/11 275）.Lifecycle对DS的筛查效率为1.82％（11/605）,2T-Risks为2.46％（9/366）.Lifecycle对18-三体综合征的筛查效率为25.0％（2/8）,2T-Risks为5.88％（2/34）.由筛查效率计算可得,Lifecycle对DS的筛查检出率为70.9％,2T-Risks为65.0％;Lifecycle对18-三体综合征的筛查检出率为69.2％,2T-Risks为78.7％.结论 同一组数据使用不同的风险计算软件对中孕期DS筛查的结果存在差异.总体上Lifecycle 较2T-Risks更优.选取合适的风险计算软件对提高DS的产前筛查质量非常重要.

Retrospective Study on 2T-Risks and Lifecycle Prenatal Systems in the Second Trimester Down Syndrome Prenatal Screening

Objective To explore the clinical performance of 2T-Risks and Lifecycle prenatal screening system in second trimester Down syndrome （DS） prenatal screening.Methods From March 2011 to May 2012,a total of 11 275 cases of second trimester pregnant women who underwent prenatal screening were included into this study.Their basic information （age and gestational age） and serum markers [alpha fetoprotein（AFP）,free β-human chorionic gonadotrophin （β-hCG）,unconjugated Estriol （μE3）] were collected.The screening risk values of fetus with trisomy 21 and trisomy 18 were calculated by two systems.The study protocol was approved by the Ethical Review Board of Investigation of West China Second University Hospital,Sichuan University.Informed consent was obtained from all participates.Results In those 11 275 pregnant women,the positive rate of the DS with Lifecycle was 7.1％（803/11 275）,and that of 2T-Risks was 5.4％ （605/11 275）.The positive rate of the Edwards syndrome with Lifecycle was 0.08％ （9/11 275）,and that of 2T-Risks was 0.56％ （63/11 275）.Screening efficiency of DS of Lifecycle was 1.82 ％ （11/605）,and that of 2T-Risks was 2.46 ％ （9/366）.The screening efficiency of Edwards syndrome with Lifecycle was 25.0％ （2/8）,and that of 2T-Risks was 5.88％ （2/34）.According to the screening efficiency,Lifecycle＇s screening detection rate of DS was 70.9％,and 2T-Risks＇ was 65.0％.Lifecycle＇s screening detection rate of Edwards syndrome was 69.2％,2T-Risks＇ was 78.7％.Conclusions For the same data,it is different of the screening risk values calculated by two systems.In total,Lifecycle is better than 2T-Risks.So choosing an appropriate screening system for improving the quality of prenatal screening for DS is very important.