中国新生儿遗传代谢病筛查现状及展望

Current Status and Prospects of Screening for Newborn Hereditary Metaboolic Disease

新生儿筛查是早发现、早治疗罕见遗传病的有效措施,在降低出生缺陷的三级预防措施中,新生儿筛查预防效果显著,并随着新疗法和新技术的进步而不断发展。新生儿筛查也是获得罕见病患病率数据的较为可靠方法。本文介绍了中国新生儿遗传代谢病筛查的历史和现状,分析了7819662例串联质谱法多种遗传代谢病新生儿筛查确诊的疾病普及患病率,提出12种罕见病作为中国串联质谱法新生儿筛查首选目标疾病。对未来的新生儿基因筛查提出了技术发展的要求和伦理的思考。

Newborn screening is an effective measure for early detection and early treatment of rare ge⁃netic diseases.Among the three⁃level preventive measures to reduce birth defects,newborn screening has a sig⁃nificant preventive effect,and continues to develop with the advancement of new therapies and new technologies.Newborn screening is also relatively more reliable to obtain data on the prevalence of rare diseases.This article introduces the history and current status of neonatal screening for newborn hereditary metabolic dis⁃ease in China,presents the disease spectrum and prevalence of 7819662 cases of neonatal screening by tan⁃dem mass spectrometry,and proposes 12 rare diseases as the primary targeting diseases for newborn screening by tandem mass spectrometry in China.At last,the article raises and discusses the issues of requirement for technology development and ethics of newborn screening.