妊娠早期唐氏综合征筛查方案的功效、安全性及卫生经济学分析

Effects, safety and cost-benefit analysis of Down syndrome screening in first trimester

目的 探讨早孕期唐氏综合征（DS）各种筛查方案的功效、安全性及卫生经济学特征.方法 回顾性分析2009年1月至2012年12月在深圳市妇幼保健院接受3种传统早孕期DS筛查的43 729例孕妇的资料,其中：（1）血清学筛查17 502例,于孕11～13周＋6进行,检测项目为妊娠相关血浆蛋白A（PAPP-A）＋游离β-hCG水平;（2）超声筛查胎儿颈部透明层厚度（NT）14 080例;（3）联合筛查12 147例,检测NT＋ PAPP-A＋游离β-hCG.与同期在深圳华大基因研究院接受无创性胎儿染色体非整倍体检测技术（NIFTY）检测的孕妇7 389例,通过“决策树”模型,模拟评估4种不同筛查方案的功效和安全性;通过成本效果分析和成本效益分析,比较各筛查方案的卫生经济学特征.结果 （1）功效：4种筛查方案的筛查功效为NIFTY＞联合筛查＞NT筛查＞血清学筛查;（2）安全性：4种筛查方案的安全性为NIFTY＞联合筛查＞NT筛查＞血清学筛查;（3）成本效果分析与成本效益分析：血清学筛查的成本效果比最低,为248 686元,成本效益比最高,为4.42;传统的3种筛查方案的增量成本效果比均＜ DS患儿的疾病经济负担（1 100 000元）.NIFTY筛查的成本效果比最高,为1 306 566元,成本效益净现值为负值.如果NIFTY筛查的价格降至＜1 434元,则成本效益净现值为正值,且成本效益比将＞1.结论 传统早孕期DS筛查方案中联合筛查的筛查功效最高,血清学筛查最具经济性;NIFTY筛查是DS筛查的未来发展方向.

Objective To investigate the effects,safety and cost-benefit analysis of Down syndrome screening in first trimester.Methods From January 2009 to December 2012,43 729 pregnant women undergoing 3 methods of Down syndrome traditional screening strategies in Shenzhen Maternity and Child Healthcare Hospital were studied retrospectively,including in 17 502 cases in pregnancy associated plasma protein A （PAPP-A） and free β-hCG measured biochemistry screening,14 080 cases in nuchal translucency （NT） screening and 12 147 cases in combined screening,meanwhile,7 389 cases on non-invasive fetal trisomy test （NIFTY） were performed in Huada Gene Research Institute（BGI）.The effects and safety of four screening strategies were assessed throughout a decision tree.The economical characters of each screening strategy were compared by cost-effectiveness analysis as well as cost-benefit analysis.Results （1） The effects of four strategies are：NIFTY 〉 combined screening 〉 NT screening 〉 biochemistry screening.（2） The safety of four strategies are：NIFTY 〉 combined screening 〉 NT screening 〉 biochemistry screening.（3） Cost-effectiveness analysis and cost-benefit analysis：the biochemistry screening has lowest cost-effectiveness ratio （CER） and highest cost-benefit ratio （CBR）,which performed a bettereconomical efficiency.The incremental CER of three traditional screening strategies are all less than the economical burden of Down syndrome.NIFTY has highest CER and negative net present value （NPV）,NPV would be positive and CBR would be more than 1 if the price of NIFTY reduce to 1 434 Yuan.Conclusions Combined screening possess best screening efficiency,while biochemistry screening was demonstrated more economical in traditional screening.NIFTY is the future of Down syndrome screening.