高龄孕妇胎儿唐氏综合征中孕期产前筛查和产前诊断的卫生经济学分析  

Cost-effectiveness analysis of second trimester prenatal screening and diagnosis for fetal Down Syndrome in women of advanced maternal age

作　　者：周希亚[1] 戚庆炜[1] 蒋宇林[1] 边旭明[1] 刘俊涛[1] 

机构地区：[1]中国医学科学院北京协和医院妇产科,北京100730

出　　处：《生殖医学杂志》2012年第3期209-213,共5页Journal of Reproductive Medicine

基　　金：国家"十一五"科技支撑计划:重大出生缺陷和遗传病的防治研究(项目编号:2006BAI05A00)

摘　　要：目的对高龄孕妇胎儿唐氏综合征产前筛查和产前诊断策略行前瞻性卫生经济学分析。方法选择2008年1月到2010年12月期间在本院就诊的、孕周为1 5～20周、自然单胎妊娠的高龄孕妇5404例,对其进行遗传咨询之后由其自行选择行唐氏综合征的母血清学筛查(筛查组)或羊膜腔穿刺术、羊水细胞培养及染色体核型分析(羊穿组)。计算各组胎儿唐氏综合征的发生率,并对两组中胎儿唐氏综合征的检出效率及卫生经济学效益进行对比。结果筛查组共2,107例,以1/270为阳性切割值,共检出胎儿唐氏综合征18例,筛查的检出率、假阳性率、假阴性率以及阳性预测值分别为100%、19.63%、0和4.20%,该组人群中胎儿唐氏综合征的发生率为8.54‰(18/2,107);羊穿组胎儿唐氏综合征的发生率为7.58‰(25/3,297)。采用chi-square检测分析两组之间胎儿唐氏综合征的发生率没有统计学差异(P=0.928)。对两组的费用进行计算,与高龄孕妇全部行羊膜腔穿刺术的方案对比,采用血清学筛查阳性后再行羊膜腔穿刺术的方案可以节省44.9%的总费用。结论在检出高龄孕妇的胎儿唐氏综合征方面,产前筛查的有效性和羊穿组是一致的,但采用血清学筛查阳性后再行羊膜腔穿刺术的方案的效价比高于全部行羊膜腔穿刺术的方案,这对于节省我国十分有限的卫生资源具有重要的现实意义。Objective. To evaluate the effectiveness of prenatal serum screening and genetic amniocentesis for diagnosis of Down Syndrome （DS） in second trimester, and compare the cost-effect of serum screening and amniocentesis among women of advanced maternal age. Methods. A total of 5,404 pregnant women of advanced maternal age and natural singletons pregnancy for 15-20 weeks were recruited for the prospective study from Jan. 2008 to Dec. 2010. The patients were grouped by their decision into the serum screening group （2,107 patients） and the amniocentesis group （3,297 patients）. The prevalence of fetal DS was compared between the two groups by chi-square test. The result of cost-effect analysis was compared between the two groups. Results： There was no statistical difference in the prevalence of fetal DS between the serum screening group and amniocentesis group （P=O. 928） by chi-square test. The detection rate, false positive rate, false negative rate and the positive predictive rate of the screening group were 100%, 19.63%, 0% and 4.2% respectively. The cost-effect analysis showed that the scheme offering genetic amniocentesis for the women with positive result of serum screening would result in a significant savings of 44. 9% when compared with universal genetic amniocentesis. Conclusions. The detection efficiency of the scheme offering genetic amniocentesis for the women with serum positive screening result was as same as that of universal genetic amniocentesis, but the former scheme could save more.

关 键 词：高龄孕妇 产前筛查 羊膜腔穿刺术 效价比 

分 类 号：R[医药卫生]