Newborn screening of inherited metabolic diseases by tandem mass spectrometry.
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.
Yu
Chun-li
CL
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA. cyu@genetics.emory.edu
Gu
Xue-fan
XF
D006801:Humans; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods*; D053719:Tandem Mass Spectrometry / Q000379:methods*