新生儿遗传代谢病筛查随访专家共识  

Expert consensus on the follow-up of newborn screening for neonatal genetic and metabolic diseases

作　　者：无 欧明才[2] 江剑辉[3] 王治国 无;Ou Mingcai;Jiang Jianhui;Wang Zhiguo(Committee for Proficiency Testing,Neonatal Genetic Metabolic Disease Screening Center,National Health Commission of China;不详)

机构地区：[1]国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查室间质评委员会 [2]四川省妇幼保健院新生儿疾病筛查中心,成都610045 [3]广东省妇幼保健院新生儿遗传代谢病筛查中心,广州510010 [4]不详

出　　处：《中华医学遗传学杂志》2020年第4期367-372,共6页Chinese Journal of Medical Genetics

摘　　要：随访是新生儿遗传代谢病筛查中非常重要的一环,直接影响患儿的检出、确诊和疗效,影响新生儿疾病筛查的工作质量。鉴于我国各地新生儿遗传代谢病筛查有关机构和人员存在着随访不足、认识不尽相同,要求不一致,迫切需要规范有关事宜,国家卫健委临床检验中心新生儿遗传代谢病筛查室间质量评价专家委员会组织专家经过多次讨论,制定出新生儿遗传代谢病筛查随访专家共识,指导随访工作开展,提高随访工作质量。Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases,which can directly influence the detection,diagnosis,efficacy of treatment,as well as the quality of neonatal screening.In view of the lack of follow-up,full understanding,and inconsistent requirement between various agencies and personnel in China,there is an urgent need for standardization.The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion,with an aim to guide the follow-up work and improve its quality.

关 键 词：新生儿筛查 随访 专家共识 

分 类 号：R72[医药卫生—儿科]