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Advances in newborn screening for biochemical genetic disorders

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Specialist Review

  1. Inderneel Sahai,
  2. Harvey L. Levy

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g106209

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Sahai, I. and Levy, H. L. 2005. Advances in newborn screening for biochemical genetic disorders. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:70.

Author Information

  1. Harvard Medical School, Boston, MA, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

Newborn screening (NBS) has evolved significantly since its introduction in 1962 for determining one biochemical genetic disorder, phenylketonuria (PKU), to now include endocrinopathies, hemoglobinopathies, congenital infections, cystic fibrosis, and congenital deafness as well as many biochemical genetic disorders. The wide coverage of biochemical genetic disorders has been facilitated by the recent addition of tandem mass spectrometry (MS/MS) to the technology for newborn screening. MS/MS enables measurement of amino acids and acylcarnitine conjugates of organic and fatty acids in the Guthrie blood specimen from newborns in one assay, thus allowing for screening for multiple disorders with abnormalities in these analytes simultaneously. The newly detectable biochemical genetic disorders can be broadly classified into amino acid, organic acid, and fatty acid oxidation disorders. This article briefly reviews the MS/MS technology, the disorders identifiable by this technology, and the distinguishing analytes during newborn screening. Though newborn screening has now been expanded to include many biochemical genetic disorders, most of these disorders remain undetectable by newborn screening. Even in disorders detectable by screening, the biochemical abnormalities may not be present during the newborn period. Thus, individuals suspected of having a biochemical genetic disorder should undergo specific testing. Newborn screening continues to be modified with advances in molecular, enzymatic, and other technologies and continues to include a greater number of disorders.

Keywords:

  • newborn screening;
  • tandem mass spectrometry;
  • MS/MS;
  • biochemical genetics