拷贝数变异测序技术应用于染色体病预防的卫生经济学分析  

Health economic study on application of copy number variation sequencing technology in the prevention to chromosomal diseases

作　　者：朱华 唐新华[2] 熊云芬 王蕾[2] 章锦曼[2] 朱姝[2] 苏洁[2] 黎冬梅[2] 任璐 朱宝生[2] ZHU Hua;TANG Xinhua;XIONG Yunfen;WANG Lei;ZHANG Jinman;ZHU Shu;SU Jie;LI Dongmei;REN Lu;ZHU Baosheng(Department of State-owned Assets Management,the First People’s Hospital of Yunnan Province,Yunnan 650032,China;Department of Obstetrics and Gynecology,Yunnan Provincial Clinical Medicine Research Center of Birth Defects and Rare Diseases,the First People’s Hospital of Yunnan Province,Yunnan 650032,China)

机构地区：[1]云南省第一人民医院国有资产管理处,云南昆明650032 [2]云南省第一人民医院妇产科,云南省出生缺陷与罕见病临床医学研究中心,云南昆明650032

出　　处：《中国优生与遗传杂志》2021年第5期593-595,共3页Chinese Journal of Birth Health & Heredity

基　　金：云南省卫生科技计划项目(2014N5281);云南省重大科技专项(2019ZF015)。

摘　　要：目的探讨卫生经济学分析对预防胎儿染色体病的产前诊断技术决策的影响及临床应用价值。方法采集到医院接受产前诊断孕妇的临床及服务价格数据,包括医院收费信息、胎儿染色体核型分析结果、拷贝数变异测序(copy number variant sequencing,CNV-Seq)检测结果,以及随访到的妊娠结局,分析计算CNV-Seq技术应用于染色体病预防的费效比,评估不同产前诊断技术方案的卫生经济学价值。结果在434例胎儿染色体病高风险的产前诊断病例中,采集胎儿羊水样本后CNV-Seq检测发出报告的时间是7天,缩短了2/3的报告时限。在核型分析能够检出的43例染色体数目异常的样本中,CNV-Seq检出了其中的42例。其中,1例45,X[25]/46,XY[18]嵌合体和1例45,X[55]/46,X,+mar[5]嵌合体,二者检测结果一致;1例45,X[5]/46,XX[45]的嵌合体Turner综合征被CNV-Seq漏检;而CNV-Seq检出的1例del 15q11.2微缺失综合征被核型分析技术漏检。产前诊断应用CNV-Seq的卫生经济学费效比为1∶13.9。结论卫生经济学分析是影响产前诊断服务决策的重要依据;CNV-Seq相较于核型分析技术在胎儿染色体病的预防中优势更为明显,单独应用的费效比最高,但若结合胎儿染色体核型分析技术则可避免性染色体异常嵌合体的漏诊。Objective To study the impact and clinical application value of health economics on the decision-making of techniques used in prenatal diagnosis for the prevention of fetal chromosomal diseases.Methods We collected the clinical and service price data of prenatal diagnosis in the hospital which pregnant women undergoing,including hospital fee-based content,fetal karyotype analysis results,copy number variants sequencing(CNV-Seq) test results and follow-up pregnancy outcomes,and then analyzed the cost-effectiveness ratio of CNV-Seq technology applied to the prevention of chromosomal diseases,and evaluated the health economic value of different prenatal diagnosis technical solutions.Results In 434 cases of prenatal diagnosis with high risk of fetal chromosomal disease,the time of waiting for the CNV-Seq test report after the amniotic fluid sampling was 7 days,which shortened the reporting time by 2/3 comparing to karyotyping.CNVs-Seq detected 42 cases of aneuploidy out of 43 cases that were detected by karyotyping,including one case of 45,X[25]/46,XY[18] mosaic and one case of 45,X[55]/46,X,+mar[5] mosaic fetuses.One case of 45,X[5]/46,XX[45] mosaic Turner syndrome was missed by CNV-Seq;while as one case of 15 q11 microdeletion syndrome detected by CNV-Seq which cannot be detected by karyotyping.The cost-effectiveness ratio of health economics of CNV-Seq for prenatal diagnosis is 1:13.9.Conclusion Health economics analysis is an important basis for the decision-making of prenatal diagnosis services.CNV-Seq has more obvious advantages in the prevention of fetal chromosomal diseases than karyotyping technology.The cost-effective ratio of CNV-Seq application independently is the highest,but it could avoid missing diagnosis cases with chromosome abnormal mosaic fetus that it is combined with chromosome karyotyping.

关 键 词：染色体病 产前诊断 CNV-Seq 核型分析 费效比 

分 类 号：R714.5[医药卫生—妇产科学]