Yu Chun-li, Gu Xue-fan
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Beijing Da Xue Xue Bao Yi Xue Ban. 2006 Feb 18;38(1):103-6.
Application of TMS technology in newborn screening has resulted in major expansion of disorder panel for metabolic diseases in recent years. This automated, multiplex testing methodology detects multiple analytes from single analysis of one blood spot, which leads to detection of 30-35 disorders of amino acids, organic acids, and fatty acids metabolism. The early identification of persons affected with inborn errors of metabolism has led to unexpected discoveries related to the natural history of the disorder or options for therapy. This article summarized (1) the basic principles of this technology and methodology. (2) Current status of application of this methodology in the United States, European countries and in China. (3) The positive impacts on the public health and advances in medical genetics. Finally (4) Challenges, issues and possible solutions. The purpose of this article aimed at introducing new technology and exploring the possibilities of implementing into developing countries where medical genetics is not developed and foreseeing the possible problems and obstacles.
近年来，经颅磁刺激（TMS）技术在新生儿筛查中的应用使代谢疾病检测项目大幅扩展。这种自动化的多重检测方法通过对一个血斑进行单次分析就能检测多种分析物，从而能够检测出30 - 35种氨基酸、有机酸和脂肪酸代谢紊乱疾病。对患有先天性代谢缺陷的人群进行早期识别，带来了与疾病自然史或治疗选择相关的意外发现。本文总结了：（1）该技术和方法的基本原理；（2）该方法在美国、欧洲国家及中国的应用现状；（3）对公共卫生的积极影响以及医学遗传学的进展；最后（4）挑战、问题及可能的解决方案。本文旨在介绍这项新技术，探索在医学遗传学不发达的发展中国家实施该技术的可能性，并预见可能出现的问题和障碍。
