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目的探讨2T-Risks和Lifecycle3.2风险计算软件在中孕期唐氏综合征(DS)产前筛查中的应用。方法选择2012年9月1日至2013年5月31日于金华市产前诊断中心自愿接受中孕期DS三联筛查的20 102例孕妇为研究对象,其年龄为17~35岁,平均为27.21岁。收集其年龄、孕龄,体重等基础信息,检测其血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(β-h CG)及游离雌三醇(u E3)水平,结果输入2T-Risks和Lifecycle3.2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20102例孕妇中,Lifecycle3.2对DS的筛查阳性率为4.8%(963/20 102),2T-Risks为4.1%(824/20 102)。Lifecycle3.2对18-三体综合征的筛查阳性率为0.1%(15/20 102),2T-Risks为1.2%(241/20 102)。Lifecycle3.2对DS的筛查效率为1.68%(12/714),2T-Risks为1.99%(10/502)。Lifecycle3.2对18-三体综合征的筛查效率为15.4%(2/13),2T-Risks为1.52%(2/132)。由筛查效率计算可得,Lifecycle3.2对DS的筛查检出率为80.2%,2T-Risks为73.2%;Lifecycle3.2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Lifecycle3.2较2T-Risks更优。选取合适的风险计算软件可以有效提高提高DS的产前筛查的筛查质量。
Objective To investigate the application of 2T-Risks and Lifecycle3.2 risk calculation software in prenatal screening of Down Syndrome (DS) in the second trimester. Methods A total of 20 102 pregnant women, who were volunteered for prenatal DS triple screening in the Prenatal Diagnostic Center of Jinhua City from September 1, 2012 to May 31, 2013, were selected as the study subjects. Their ages ranged from 17 to 35 years, with an average of 27.21 year old. The basic information such as age, gestational age and body weight were collected and the levels of serum alpha-fetoprotein (AFP), free beta-human chorionic gonadotropin (β-h CG) and free estriol (u E3) were measured. 2T-Risks and Lifecycle3.2 risk calculation software to calculate the risk of fetal 21-trisomic karyotype, 18-trisomy karyotype and analyzed retrospectively. Results Among the 20102 pregnant women, the positive rate of Lifecycle3.2 screening for DS was 4.8% (963/20 102) and 2T-Risks was 4.1% (824/20 102). The positive rate of Lifecycle3.2 screening for 18-trisomy syndrome was 0.1% (15/20 102) and 2T-Risks was 1.2% (241/20 102). Lifecycle3.2 screening efficiency of DS was 1.68% (12/714) and 2T-Risks was 1.99% (10/502). Lifecycle3.2 screening efficiency for trisomy 18 was 15.4% (2/13) and 2T-Risks was 1.52% (2/132). According to the calculation of screening efficiency, the detection rate of DS in Lifecycle3.2 was 80.2%, and that of 2T-Risks was 73.2%. The detection rate of Lifecycle3.2 in 18-trisomy was 69.2% 2T-Risks was 78.7%. Conclusions There are differences in the results of DS screening during the second trimester if different risk calculation softwares are used in the same group of data. Lifecycle3.2 is generally better than 2T-Risks. Choosing the appropriate risk calculation software can effectively improve the screening quality of prenatal screening to improve DS.