高龄孕妇不同产前诊断方案的结果分析及成本效果分析  

Analysis of the results and cost-effectiveness of different diagnosis schemes in pregnant women with advanced maternal age

作　　者：吴莉[1] 钟进[1] 郭晓玲[1] 朱晓丹[1] 宋春林[1] 周登诗[1] 李红霞[1] 邓莎[1] Wu Li;Zhong Jin;Guo Xiaoling;Zhu Xiaodan;Song Chunlin;Zhou Dengshi;Li Hongxia;Deng Sha(Maternity and Child Healthcare Hospital of Foshan in Guangdong,Foshan 528000,China)

机构地区：[1]南方医科大学附属佛山市妇幼保健院,佛山528000

出　　处：《国际遗传学杂志》2021年第1期13-19,共7页International Journal of Genetics

基　　金：佛山市科技局项目(2018AB000291)。

摘　　要：目的探讨高龄孕妇胎儿染色体异常情况,并对3种不同产前诊断方案进行成本效果分析。方法选择2019年1月1日至2019年12月31日在南方医科大学附属佛山市妇幼保健院产前诊断科就诊的单胎高龄孕妇2000例,由孕妇自主选择方案。方案1:先行无创性产前基因检测(non-invasive prenatal test,NIPT),NIPT异常或者后续超声诊断异常再行羊膜腔穿刺术选择方案2A或者2B。方案2A:直接行羊膜腔穿刺术行胎儿染色体核型分析及荧光原位杂交(flurescence in situ hybridization,FISH)。方案2B:直接行羊膜腔穿刺术行胎儿染色体核型分析及高通量测序(next-generation sequencing technology,NGS)。统计高龄孕妇胎儿异常染色体检出情况,并对3种不同产前诊断方案进行成本效果分析。结果高龄孕妇胎儿异常染色体的检出率为4.8%,其中21三体及性染色体非整倍体最为常见,其次是18三体。方案1与方案2A和2B相比,每确诊1例胎儿染色体异常所需费用,仅需要方案2A或2B费用的1/3。结论高龄孕妇采用NIPT初筛较直接侵入性产前诊断可以节省医疗费用,充分利用有限的产前诊断医疗资源。建议在充分知情同意的基础上可将NIPT用于高龄孕妇的一线筛查。Objective To explore the chromosomal abnormalities of the fetus in pregnant women with advanced maternal age,and to analyze the costeffectiveness of three different prenatal diagnosis schemes.Methods From January 1,2019 to December 31,2019,a total of 2000 singleton pregnant women of advanced maternal age who visited the outpatient at Foshan Maternal and Child Healthcare Hospital were recruited for this study.They were asked to choose:strategy 1(NIPT as the initial screening,and amniocentesis if there was positive result from NIPT or fetal structural abnormality);strategy 2A(universal amniocentesis,karyotype analysis and fluorescence in situ hybridization);strategy 2B(universal amniocentesis,karyotype analysis and nextgeneration sequencing technology).The demand and influencing factors of two strategies were compared,and the economic evaluation of two strategies was also performed.The detection of abnormal fetal chromosomes in pregnant women with advanced maternal age was analyzed,and the costeffectiveness of three different prenatal diagnosis schemes was performed.Results The detection rate of fetal abnormal chromosome in pregnant women with advanced maternal age was 4.8%,among which 21 trisomy and sex chromosome aneuploidy were the most common type,which was followed by 18 trisomy.Compared with scheme 2A and 2B,scheme 1 only cost 1/3 of the scheme 2A or 2B for every diagnosed fetus chromosomal abnormality.Conclusion Compared with direct invasive prenatal diagnosis,NIPT screening can save medical cost and make full use of limited medical resources.After detailed counseling,NIPT can be offered as the initial screening for pregnant women of advanced maternal age.

关 键 词：高龄孕妇 产前诊断 成本效果分析 胎儿染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]