新生儿遗传代谢病筛查阳性及确诊患者的管理  

Management of positive screening and confirmed patients with neonatal genetic metabolic diseases

作　　者：杨茹莱[1] 舒强[1] YANG Rulai;SHU Qiang(National Clinical Medical Research Center for Child Health and Diseases,Department of Genetics and Metabolism,Children's Hospital Affliated to Zhejiang University School of Medicine,Hangzhou 310000,China)

机构地区：[1]国家儿童健康与疾病临床医学研究中心、浙江大学医学院附属儿童医院遗传与代谢科,浙江杭州310000

出　　处：《中国实用儿科杂志》2023年第7期513-516,共4页Chinese Journal of Practical Pediatrics

基　　金：国家重点研发计划(2022YFC2703401);浙江省重点研发计划(2021C03099)。

摘　　要：新生儿遗传代谢病筛查是出生缺陷防控的第三级防御措施,随着我国各地筛查率不断提高,如何提高筛查阳性召回率及保证确诊患儿规范管理的问题突显。文章将针对筛查阳性及确诊病例管理中可能存在的诸多难点提出建议对策,旨在进一步提高我国新生儿遗传代谢病规范筛诊治质量,真正体现新生儿疾病筛查与诊治并重。Neonatal inherited metabolic diseases screening is the tertiary preventive measures of prevention and control for birth defects.With the continuous increase of screening rates in various regions of China,more focus is given to the problem of how to improve the suspicious positive recall rate and implement the standardized management of confirmed children.In this paper,some suggestions will be put forward on the possible difficulties in management of screening positive and confirmed cases,in order to further improve the quality of standardized management of neonatal inherited metabolic diseases screening,diagnosis and treatment,and truly lay equal stress on screening and treatment.

关 键 词：新生儿 遗传代谢病筛查 召回率 治疗率 

分 类 号：R72[医药卫生—儿科]