长沙市不同唐氏综合征筛查策略的性能以及卫生经济学分析

Health economic evaluation of four prenatal screening strategies for Down syndrome in Changsha, China

目的比较无创产前检测(non-invasive prenatal testing,NIPT)与孕中期血清学筛查对于胎儿染色体数目异常的筛查效果并评估4种筛查策略对于预防唐氏综合征的卫生经济学价值。方法对长沙市妇幼保健院2018年3月1日至2019年12月31日的54026例同时完成NIPT和孕中期血清学筛查的单胎孕妇的临床资料进行回顾分析,为NIPT高风险孕妇提供产前诊断,通过电话或民生系统随访妊娠结局。从卫生经济学角度模拟4种筛查策略,并对其进行成本效果分析。结果NIPT的灵敏度、特异性和阳性预测值均高于孕中期血清学筛查。策略1~4分别成功预防了71、29、52和54例唐氏综合征患儿的出生;安全指数分别为0.0036、0.3944、0.2215和0.1281。NIPT费用降至600元/例时,成本效果比分别为46.33万元、60.55万元、44.30万元和39.49万元。策略1与策略4的增量成本效果比为68.04万元。结论NIPT各项检测性能均显著优于孕中期血清学筛查。当NIPT费用降至600元/例时,策略1在具有效果最好、安全性及准确率最高优势的同时也具备了更好的卫生经济学价值。

Objective To compare the clinical application and health economic values of non-invasive prenatal testing(NIPT)and second trimester serum screening(STSS).Methods A retrospective analysis was carried out on 54026 singleton pregnant women undergoing NIPT and STSS from March 1,2018 to December 31,2019 in Changsha Maternal&Child Health Care Hospital.For pregnant women with high-risk results of NIPT,prenatal diagnosis and follow-up of pregnancy outcomes were conducted.The data was grouped to 4 screening models,and their cost-benefit was analyzed.Results The sensitivity,specificity and positive predictive value of NIPT were all higher than STSS.Screening models 1 to 4 have prevented the birth of 71,29,52 and 54 patients with Down syndrome,respectively.The safety index of screening models 1 to 4 were 0.0036,0.3944,0.2215 and 0.1281,respectively.When the price of NIPT was decreased to 600 RMB,the cost-benefit of the screening models 1 to 4 was 0.46,0.65,0.44 and 0.40 million RMB,respectively.Conclusion NIPT has a better detection performance than STSS.When the price of NIPT is 600 RMB,screening model 1 has the best screening effect and the highest accuracy,safety index and health economical value.