Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids

Anal Chem. 2023 Feb 14;95(6):3187-3194. doi: 10.1021/acs.analchem.2c03098. Epub 2023 Feb 1.

Abstract

First-tier MS-based newborn screening by flow injection analysis can have high presumptive positive rates, often due to isomeric/isobaric compounds or poor biomarker specificity. These presumptive positive samples can be analyzed by second-tier screening assays employing separations such as liquid chromatography-mass spectrometry (LC-MS/MS), which increases test specificity and drastically reduces false positive referrals. The ability to screen for multiple disorders in a single multiplexed test simplifies workflows and maximizes public health laboratories' resources. In this study, we developed and validated a highly multiplexed second-tier method for dried blood spots using a hydrophilic interaction liquid chromatography (HILIC) column coupled to an MS/MS system. The LC-MS/MS method was capable of simultaneously detecting second-tier biomarkers for maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, glutaric acidemia type 1, glutaric acidemia type 2, guanidinoacetate methyltransferase deficiency, short-chain acyl-CoA dehydrogenase deficiency, adrenoleukodystrophy, and Pompe disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acids
  • Antifibrinolytic Agents*
  • Biomarkers
  • Chromatography, Liquid
  • Humans
  • Infant, Newborn
  • Lysophosphatidylcholines
  • Neonatal Screening / methods
  • Organic Chemicals
  • Propionic Acidemia*
  • Tandem Mass Spectrometry / methods

Substances

  • Amino Acids
  • Lysophosphatidylcholines
  • Organic Chemicals
  • Antifibrinolytic Agents
  • Biomarkers