现代妇产科进展2025，Vol.34Issue(3)：201-206,6.DOI:10.13283/j.cnki.xdfckjz.2025.03.004
4种唐氏综合征产前筛查策略的卫生经济价值评估
Health economics evaluation of four prenatal screening strategies for Down syndrome
摘要
Abstract
Objective:To evaluate the health economic value and efficacy of four pre-natal screening strategies for Down syndrome.Methods:A total of 22 391 singleton pregnant women who participated in first trimester combined screening(FTCS)and non-invasive prena-tal testing(NIPT)at The University of Hong Kong Shenzhen Hospital from June 2015 to June 2022 were selected.Four simulated screening strategies for Down syndrome were set up,and the results of invasive prenatal diagnosis or postpartum validation were used as pregnancy out-comes.The detection rate,false positives rate,and positive predictive values were used to com-pare the screening effects of the four screening strategies on Down syndrome,and the cost-effec-tiveness net present value and cost-effectiveness ratio were used to evaluate the economics of the four screening strategies.4 screening strategies:Strategy 1:pregnant women undergo FTCS,if Trisomy 21(T21)screening is high-risk(≥1/270)patients undergone invasive prenatal diag-nosis,borderline risk(1/1000～1/270)will test for NIPT,if NIPT high-risk will undergo pre-natal diagnosis;Strategy 2:pregnant women test for FTCS first,and those with T21 high or bor-derline risk will test for NIPT,if NIPT high risk will undergo prenatal diagnosis;Strategy 3:pregnant women test for both FTCS and NIPT simultaneously,and prenatal diagnosis will be performed with T21 high risk for FTCS and/or NIPT;Strategy 4:pregnant women only per-formed NIPT,and undergo prenatal diagnosis if tested high-risk.Result:Among 22391 pregnant women,there were a total of 31 cases of confirmed T21(31/22391,0.14%).Both Strategy 1 and Strategy 2 detected 25 cases of T21 and missed 6 cases,with a detection rate of 80.65%.Both Strategy 3 and Strategy 4 detected 30 cases of T21 and missed 1 case,with a detection rate of 96.77%.False positive rate:Strategy 3(2.68%)>Strategy 1(2.67%)>Strategy 4(0.01%)>Strategy 2(0.00%),positive predictive value:Strategy 2(100%)>Strategy 4(90.91%)>Strategy 3(4.77%)>Strategy 1(4.03%),screening cost:Strategy 1>Strategy 2>Strategy 3>Strategy 4,cost-effectiveness net value:Strategy 4>Strategy 3>Strategy 2>Strategy 1,benefit-cost ratio:Strategy 4<Strategy 3<Strategy 2<Strategy 1.Conclusions:Given NIPT test cost is reasonable,NIPT has high health economic value and can be used as a first-line screen-ing strategy for Down syndrome.Combined FTCS and NIPT screening did not shown superior health economic benefits.关键词
唐氏综合征/无创产前检测/孕早期联合筛查/卫生经济价值Key words
Down syndrome/Non-invasive prenatal testing/First trimester combined screening/Health economics evaluation分类
临床医学引用本文复制引用
许广霞,唐海燕,张家怡,李艳颜,林胜谋..4种唐氏综合征产前筛查策略的卫生经济价值评估[J].现代妇产科进展,2025,34(3):201-206,6.基金项目
深圳市科技创新委员会基础研究项目(No:JCYJ20210324114610028) （No:JCYJ20210324114610028）
深圳市罕见病临床医学研究中心项目(No:LCYSSQ20220823091402005) （No:LCYSSQ20220823091402005）
