孕中期唐氏综合征血清学不同筛查方案的前瞻性对照研究及卫生经济学分析

A perspective study and financial analysis of different prenatal serum screening protocols for Down's syndrome during the second-trimester pregnancy

目的比较孕中期唐氏综合征血清学二联与三联的筛查效率与经济学分析。方法收集2008年9～12月在北京市海淀区妇幼保健院产前筛查中心进行孕中期唐氏综合征筛查的孕妇,应用时间分辨荧光免疫法(TR-FIA)进行血清学筛查二联[甲胎蛋白(AFP)+游离β-人绒毛膜促性腺激素(β-hCG)]及三联[AFP+游离β-hCG+游离雌三醇(E_3)]检测,并随访其妊娠结局。结果 (1)本研究共收集孕中期孕妇血清样本4,707例,随访到妊娠结局的4,245例,失访462例,妊娠结局随访率90.2%。其中唐氏综合征(21-三体)3例,其他染色体异常4例,神经管畸形1例。未出现因侵入性产前诊断流产患者。(2)三联筛查唐氏综合征检出率66.7%、假阳性率5.26%,所有染色体异常检出率75%;二联筛查检出率33.3%、假阳性率4.01%,所有染色体异常检出率37.5%;神经管畸形(NTD)检出率100%、假阳性率0.4%;18-三体假阳性率0.24%。三联筛查检出率高于二联筛查。(3)三联筛查每筛查出1例唐氏儿,所花血清学筛查及产前诊断费用约为499,375元,二联筛查为781,200元,二联筛查费用明显高于三联。结论中孕期血清学筛查效率三联筛查优于二联筛查,用于产前筛查与产前诊断费用三联筛查也低于二联筛查。

Objective： To compare the efficiency and related financial parameters of the double test and triple test for the second-trimester Downrs syndrome serum screening. Methods： The serum samples were collected from the 2nd trimester pregnant women in this hospital and were examined for double marker test （AFP＋free β-hCG） and triple marker test （AFP＋ freeβ-hCG＋ uE3） by TR-FIA. The pregnancy outcomes were followed up and screening efficiency calculated. Results： （1） 4707 serum samples of 2^nd trimester pregnancy were collected in this study, of which 4245 pregnancy outcomes got followed up by May 30th 2009, with 462 cases lost in follow-up. The follow-up rate was 90.2%. 3 eases of Down＇s Syndrome, 4 cases of other chromosome abnormalities and 1 case of neural tube defect （NTD） were found. There was no medically induced miscarriage by invasive tests. （2） Detection rate and false positive rate of triple marker test for Down＇s syndrome screening were 66. 7% and 5.26 %, respectively, while those in double marker test were 33.3 % and 4.01%, respectively. The detection rate of all chromosome abnormalities was 75 % in triple marker test and 37.5 % in double marker test. The detection rate of NTD was 100% either in double or triple marker test. （3） It costs 499,375 RMB to find one Down＇s syndrome pregnancy by using triple marker test and 781,200 RMB by using double marker test. Conclusions. Triple marker test is superior to double marker test in 2^na trimester serum screening, and costs less in both prenatal screening and prenatal diagnosis.