无细胞DNA筛查21三体综合征的诊断效能及经济学分析

目的 评价无细胞DNA筛查21三体综合征新生儿的诊断效能及经济学价值。 方法 将2017年1月—2018年12月于温州市中心医院和浙江省台州医院行常规产检并分娩的符合研究标准的1 411例孕产妇纳入研究,采用随机数字表法将其分为常规筛查组(705例)及无细胞DNA组(706例),常规三联筛查在孕15~20周检测孕妇体内游离人绒毛膜促性腺激素、甲胎蛋白及游离雌三醇水平,运用专业计算软件算出孕产妇娩出21三体综合征患儿的风险;无细胞DNA筛查则是在孕15~20周行无细胞DNA检测以评估孕产妇娩出21三体综合征患儿的风险;对经孕妇及家属同意的高风险人群行羊水穿刺以确诊,比较并分析无细胞DNA筛查21三体综合征的诊断效能及经济学效益。 结果 2组孕产妇的年龄、孕周等一般资料比较差异无统计学意义(均P>0.05);常规筛查组诊断的敏感性为100%,特异性为99%,无细胞DNA组敏感性为100%,特异性为100%,无细胞DNA组的假阳性率为0.00%,明显低于常规筛查组的0.85%(χ2=6.026,P=0.014);常规筛查组确诊1例胎儿的费用为70 860.35元,无细胞DNA组为58 027.81元,且无细胞DNA组筛查的成本/效益值为0.012,低于常规筛查组的0.017。 结论 无细胞DNA检查在筛查21三体综合征方面具有较高诊断效能,且相对安全无创,社会成本低。 

Diagnostic efficacy and economic analysis of cell-free DNA screening for trisomy 21 syndrome

Objective To evaluate the diagnostic efficacy and economic value of cell-free DNA screening for newborns with trisomy 21 syndrome. Methods Pregnant women who met the research criteria for routine delivery and delivery at Wenzhou Central Hospital and Taizhou Hospital of Zhejiang Province from January 2017 to December 2018 were included in the study. They were divided into routine screening group and cell-free DNA group by random number table method. Routine triple screening tests detected the levels of free human chorionic gonadotropin, alpha-fetoprotein and free estriol at 15-20 weeks of pregnancy, and used professional calculation software to calculate the risk of maternal delivery of children with trisomy 21. Cell-free DNA screening was performed in the 15-20 weeks of pregnancy to assess the risk of maternal birth of children with trisomy 21. Amniocentesis was performed for high-risk groups with the consent of pregnant women and their families to confirm the diagnosis. The diagnostic efficacy and economic benefits of cell-free DNA screening for trisomy 21 were analyzed. Results There were no significant differences in general information such as age and gestational age between the two groups(both P>0.05). The diagnostic sensitivity of the routine screening group was 100%, the specificity was 99%, and the sensitivity of the cell-free DNA group was 100%, specificity is 100%, the false-positive rate in the cell-free DNA group is 0.00%, which was significantly lower than that in the conventional screening group by 0.85%(χ2=6.026, P=0.014). The cost of confirming a fetus in the routine screening group was 70 860.35 yuan, and the cell-free DNA group was 58 027.81 yuan. The cost/benefit value of the screening of the cell-free DNA group was 0.012, which was lower than that of the conventional screening group by 0.017. Conclusion Cell-free DNA testing has a high diagnostic efficacy in screening trisomy 21, is relatively safe and non-invasive, and has low social cost.