唐氏綜合征產前篩查策略衛生經濟學評價

［摘 要］目的 利用真實世界數據探討唐氏綜合征產前篩查方法效能及衛生經濟學特征，為優化產前篩查策略提供科學依據。方法 回顧性分析2017至2019年在深圳市9家產前診斷中心進行產前篩查的單胎妊娠孕婦數據。按照不同篩查方法分組，比較孕早期唐氏血清學、孕中期唐氏血清學、無創產前基因檢測（NIPT）及孕早期唐氏血清學序貫NIPT篩查4種策略篩查唐氏綜合征的靈敏度、特異度、陽性預測值、準確率；通過成本效果和成本效益分析，從社會角度比較4種篩查策略的衛生經濟學特征。結果 按照4種篩查策略將研究對象分組，接受NIPT篩查的154 533例孕產婦平均年齡（30.47±4.45）歲，≥35歲占比為19.81%，高于孕早期唐氏篩查和孕中期唐氏篩查人群，差異有統計學意義（χ2=9 915.613，Plt;0.05）；NIPT篩查唐氏綜合征的靈敏度96.54%、特異度99.96%、陽性預測值85.24%、準確率99.95%，篩查效能優于其他3種篩查策略；NIPT篩查的成本效果比為62.12，成本效益比為1∶9.68，均優于其他3種策略；亞組分析結果顯示，無論對于高齡還是低齡孕產婦人群，NIPT篩查唐氏綜合征的效能和經濟效益都優于唐氏血清學篩查及聯合篩查策略，特別是高齡孕產婦的效益更加突出。結論 NIPT篩查提高了唐氏綜合征的檢出率，具有更好的社會效益和經濟效益。

［關鍵詞］唐氏綜合征；產前篩查；成本效果分析；成本效益分析

Doi：10.3969/j.issn.1673-5293.2024.09.013

［中圖分類號］R174.6""nbsp; ［文獻標識碼］A

［文章編號］1673-5293（2024）09-0082-06

Health economic evaluation on prenatal screening strategies for Downs syndrome

［Abstract］ Objective To explore effectiveness and health economic characteristics of prenatal screening strategies for Downs 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，Plt;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.

［Key words］ Downs syndrome;prenatal screening;cost-effectiveness analysis;cost-benefit analysis

唐氏綜合征即21-三體綜合征（trisomy 21 syndrome，T21），又稱先天愚型或Down綜合征，是與智力殘疾相關的、最常見的染色體遺傳病［1］。新生兒發病率高達1/800～1/600［2］，患兒表現為明顯的智力低下、特殊面容、生長發育障礙和多發畸形，且目前無有效治療手段，嚴重影響兒童的生存和生活質量，給患兒及其家庭帶來巨大痛苦和經濟負擔。……