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

作　　者：许广霞 唐海燕 张家怡 李艳颜 林胜谋 Xu Guangxia;Tang Haiyan;Zhang Jiayi(The University of Hong Kong-Shenzhen Hospital Prenatal Diagnostic Center,Shenzhen 518000)

机构地区：[1]香港大学深圳医院产前诊断中心,深圳518000

出　　处：《现代妇产科进展》2025年第3期201-206,共6页Progress in Obstetrics and Gynecology

基　　金：深圳市科技创新委员会基础研究项目(No:JCYJ20210324114610028);深圳市罕见病临床医学研究中心项目(No:LCYSSQ20220823091402005)。

摘　　要：目的:对4种唐氏综合征产前筛查策略的筛查效果及成本效益进行卫生经济价值评估,探讨唐氏综合征产前筛查策略。方法:选取2015年6月至2022年6月在香港大学深圳医院同时参加孕早期联合筛查(FTCS)和无创产前检测(NIPT)的22391例单胎妊娠孕妇为研究对象,模拟4种唐氏综合征筛查策略,以入侵性产前诊断或产后验证结果为确诊依据,采用检出率、假阳性率、阳性预测值比较4种筛查策略对唐氏综合征的筛查效果,使用成本效益净现值、成本效果比值评价4种筛查策略的经济性。4种筛查策略:策略1孕妇先行FTCS,21三体综合征(Trisomy 21,T21)筛查高风险(≥1/270)进行产前诊断,临界风险(1/1000~1/270)行NIPT,NIPT高风险进行产前诊断;策略2孕妇先行FTCS,T21临界风险以上(≥1/1000)行NIPT,NIPT高风险进行产前诊断;策略3孕妇同时行FTCS和NIPT,FTCS高风险和(或)NIPT高风险的行产前诊断;策略4孕妇行NIPT,NIPT高风险进行产前诊断。结果:22391例孕妇中,共有31例T21(31/22391,0.14%),策略1和策略2分别检出25例T21,漏检6例,检出率80.65%;策略3和策略4分别检出30例T21,漏检1例,检出率96.77%。假阳性率:策略3(2.68%)>策略1(2.67%)>策略4(0.01%)>策略2(0.00%),阳性预测值:策略2(100%)>策略4(90.91%)>策略3(4.77%)>策略1(4.03%),筛查诊断成本:策略1>策略2>策略3>策略4,成本效益净现值:策略4>策略3>策略2>策略1,成本效果比:策略4<策略3<策略2<策略1。结论:当价格合理时NIPT具有较高的卫生经济价值,可作为唐氏综合征的一线筛查策略;同时进行血清学和NIPT筛查并未显示良好的卫生经济学效益。Objective:To evaluate the health economic value and efficacy of four prenatal screening strategies for Down syndrome.Methods:A total of 22391 singleton pregnant women who participated in first trimester combined screening(FTCS)and non-invasive prenatal 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 outcomes.The detection rate,false positives rate,and positive predictive values were used to compare the screening effects of the four screening strategies on Down syndrome,and the cost-effectiveness 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 diagnosis,borderline risk(1/1000~1/270)will test for NIPT,if NIPT high-risk will undergo prenatal diagnosis;Strategy 2:pregnant women test for FTCS first,and those with T21 high or borderline 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 performed 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>Str

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 

分 类 号：R715.5[医药卫生—妇产科学]