唐氏综合征产前筛查策略卫生经济学评价

Health economic evaluation on prenatal screening strategies for Down's syndrome

摘要

目的 利用真实世界数据探讨唐氏综合征产前筛查方法效能及卫生经济学特征,为优化产前筛查策略提供科学依据。方法 回顾性分析2017至2019年在深圳市9家产前诊断中心进行产前筛查的单胎妊娠孕妇数据.按照不同筛查方法分组,比较孕早期唐氏血清学、孕中期唐氏血清学、无创产前基因检测(NIPT)及孕早期唐氏血清学序贯NIPT筛查4种策略筛查唐氏综合征的灵敏度、特异度、阳性预测值、准确率;通过成本效果和成本效益分析,从社会角度比较4种筛查策略的卫生经济学特征。结果 按照4种筛查策略将研究对象分组,接受NIPT筛查的154533例孕产妇平均年龄(30.47±4.45)岁,≥35岁占比为19.81%,高于孕早期唐氏筛查和孕中期唐氏筛查人群,差异有统计学意义(χ²=9915.613,P<0.05);NIPT筛查唐氏综合征的灵敏度96.54%、特异度99.96%、阳性预测值85.24%、准确率99.95%,筛查效能优于其他3种筛查策略;NIPT筛查的成本效果比为62.12,成本效益比为1∶9.68,均优于其他3种策略;亚组分析结果显示,无论对于高龄还是低龄孕产妇人群,NIPT筛查唐氏综合征的效能和经济效益都优于唐氏血清学筛查及联合筛查策略,特别是高龄孕产妇的效益更加突出。结论 NIPT筛查提高了唐氏综合征的检出率,具有更好的社会效益和经济效益.

Abstract

Objective To explore effectiveness and health economic characteristics of prenatal screening strategies for Down's syndrome with Real World Data and to provide scientific bases for optimizing prenatal screening strategies for DS. Methods The clinical data of the pregnant women with singleton pregnancies who received prenatal examination in 9 prenatal diagnosis centers in Shenzhen city from 2017 to 2019 were retrospectively analyzed. According to screening method, the pregnant women were divided into four groups: serological screening for DS in early pregnancy group, serological screening for DS in middle pregnancy group, non-invasive prenatal testing (NIPT) group and serological screening for DS in early pregnancy plus sequential NIPT group. The sensitivity, specificity, positive predictive value and accuracy of the four prenatal screening strategies for DS were compared. Cost-effectiveness and cost-benefit analyses were performed to compare the health economic characteristics of the four screening strategies from a social perspective. Results Among the study subjects in the four screening strategy groups, the average age of 154,533 pregnant women who underwent NIPT screening was 30.47±4.45 years, and the proportion of the pregnant women with average age ≥35 years was 19.81%, which was higher than those of the pregnant women who underwent serological screening in first trimester of pregnancy and serological screening in second trimester of pregnancy, and the difference was statistically significant (χ²=9915.613, P<0.05). The sensitivity, specificity, positive predictive value and accuracy of NIPT screening for DS were 96.54%, 99.96%, 85.24% and 99.95% respectively, suggesting that the screening effectiveness of NIPT for DS was better than the other three strategies. The cost-effectiveness ratio of NIPT screening was 62.12, and the cost-benefit ratio was 1∶9.68, which were better than those of the other three strategies. Subgroup analysis results showed that the pregnant women either in the old maternal age group or in the young maternal age group, the cost-effectiveness ratio and the cost-benefit ratio of NIPT for screening DS were better than those of serological screening for DS and serological screening plus sequential NIPT (combined screening) strategies, especially for those elderly pregnant women. Conclusion NIPT screening improves the detection rate of DS and offers better social and economic benefits.

关键词

唐氏综合征 / 产前筛查 / 成本效果分析 / 成本效益分析

Key words

Down's syndrome / prenatal screening / cost-effectiveness analysis / cost-benefit analysis

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基金资助

深圳市卫生经济学会青年探索基金(202274)