[Mass spectrometry and neonatal screening]

Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):107-11. doi: 10.1684/abc.2014.1021.
[Article in French]

Abstract

Tandem mass spectrometry allows to screen many inherited metabolic diseases within a single blood spot. It is possible to screen newborns for amino and organic acid, fatty acid oxidation disorders and lysosomal diseases. Tandem mass spectrometry neonatal screening is not yet realized in France in 2014.

Keywords: inherited metabolic disease; neonatal screening; tandem mass spectrometry.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Blood Specimen Collection / methods
  • France
  • Humans
  • Infant, Newborn
  • Mass Spectrometry / methods*
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / diagnosis*
  • Neonatal Screening / methods*
  • Tandem Mass Spectrometry