先天性肾上腺皮质增生症与葡萄糖-6-磷酸脱氢酶缺乏症新生儿筛查的可行性研究  

Feasibility analysis of newborn screening for congenitaladrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency

作　　者：陈佩纯 杨茹莱[2] 钱古柃[2] 董敖[2] 李志浩 赵正言[2] CHEN Peichun;YANG Rulai;QIAN Guling;DONG Ao;LI Zhihao;ZHAO Zhengyan(Department of Epidemiology,School of Public Health,Southern Medical University,Guangzhou,Guangdong 510515,China;National Clinical Research Center for Child Health and Disorders,National Regional Medical Center for Children,Department of Genetics and Metabolism,Children's Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310052,China;Health-Care Department,Shenzhen Guangming Maternity and Child Healthcare Hospital,Shenzhen,Guangdong 518107,China)

机构地区：[1]南方医科大学公共卫生学院流行病学系,广东广州510515 [2]国家儿童健康与疾病临床医学研究中心/国家儿童区域医疗中心/浙江大学医学院附属儿童医院遗传代谢科,浙江杭州310052 [3]深圳市光明区妇幼保健院保健部,广东深圳518107

出　　处：《中国优生与遗传杂志》2024年第4期734-740,共7页Chinese Journal of Birth Health & Heredity

基　　金：浙江省自然科学基金项目(LY19H190005)。

摘　　要：目的本研究旨在对先天性肾上腺皮质增生症(CAH)与葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症新生儿筛查进行经济成本效益分析,为卫生部门决策提供循证依据。方法本研究选取已开展CAH/G6PD缺乏症筛查的若干省份,了解其筛查现状及发病率。根据相关文献,结合社会性调研结果,进行成本效益分析。结果在全国范围内进行CAH筛查,投入与产出比例在1∶2.4以上的成本效益比良好。而G6PD缺乏症发病率在1∶2781以上的地区进行筛查,产出比投入高,反之投入比产出高。对68名相关领域专家进行问卷调查,收到有效问卷63份。对于两病的筛查均支持的人数达50人(50/63)。结论在全国范围内开展CAH和G6PD缺乏症新生儿筛查可以带来明显的经济效益和社会效益。Objective The purpose of this study is to conduct an economic cost-effectiveness analysis of newborn screening with congenital adrenocortical hyperplasia(CAH)and glucose-6-phosphate dehydrogenase(G6PD)deficiency to provide evidence-based decisions for health departments.Methods This study selected the provinces which had carried out CAH and G6PD deficiency screening to understand the current situation and morbidity.According to the relevant literature and social research results to conduct a cost-effectiveness analysis.Results The nationwide CAH screening has good cost-benefit of input and output ratio above 1∶2.4.However,when the incidence of G6PD deficiency is above 1∶2781,the output is higher than the input.Conversely,the input is higher than output.Conclusion Neonatal screening for CAH and G6PD deficiency can bring significant economic and social benefits.

关 键 词：先天性肾上腺皮质增生症(CAH) 葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症 新生儿筛查 成本效益分析 

分 类 号：R722.1[医药卫生—儿科]