临床儿科杂志 ›› 2024, Vol. 42 ›› Issue (2): 89-92.doi: 10.12372/jcp.2024.24e0027

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中国新生儿筛查四十三年发展历程——从陈瑞冠教授说起

赵正言   

  1. 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)
  • 收稿日期:2024-01-11 出版日期:2024-02-15 发布日期:2024-02-02

The forty-three year development of newborn screening in china: starting with Chen Ruiguan

ZHAO Zhengyan   

  1. National Clinical Research Center for Child Health, National Children’s Regional Medical Center, Department of Genetics and Metabolism, Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, Zhejiang, China
  • Received:2024-01-11 Online:2024-02-15 Published:2024-02-02

摘要:

中国新生儿筛查事业经过四十三年的发展,已经取得了举世瞩目的成就。陈瑞冠教授不仅是中国新生儿筛查领域的开拓者,更是这一学科的创始人。本文将全面回顾中国新生儿筛查的发展历程,包括新生儿筛查病种的扩大及技术创新、相关国家政策的颁布,新生儿筛查取得的巨大成就、以及新生儿筛查对家庭以及社会的影响等。并展望未来的发展方向,以此纪念陈教授的卓越贡献。

关键词: 陈瑞冠, 新生儿筛查, 发展历程

Abstract:

After forty-three years of development, China’s newborn screening program has achieved remarkable success. Professor Chen Ruiguan, not only a pioneer in the field of newborn screening in China but also the founder of this discipline. This article comprehensively reviews the development of newborn screening in China, including the expansion of screened diseases and technological innovations, the promulgation of relevant national policies, the significant achievements of newborn screening, and its impact on families and society. It also looks ahead to future directions, commemorating Professor Chen’s outstanding contributions.

Key words: Chen Ruiguan, newborn screening, developmental history