Tandem Mass Spectrometry (MS/MS) has revolutionised newborn screening by enabling the simultaneous detection of dozens of metabolic and genetic disorders from a single dried blood spot. This powerful analytical technique has dramatically expanded screening capabilities since its introduction in the late 1990s.
Methodology
MS/MS works by ionizing blood sample molecules, separating these ions based on their mass-to-charge ratio, and then quantifying specific metabolites present in the blood. The technique can detect abnormal levels of amino acids, organic acids, and fatty acid oxidation disorders by identifying characteristic biochemical markers.
Explanation of terms: “Conditions” refers to the number of disorders that can be detected. “Specificity” indicates how accurately the test identifies healthy individuals (95% means very few false positives). “Incidence” shows how often these conditions occur, in this case, about 1 in every 15,000 newborns.
Detectable through a single test
Low false positive rates
Of detectable conditions
Detectable Conditions
Amino Acid Disorders
Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria, Tyrosinaemia
Fatty Acid Oxidation Disorders
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
Organic Acid Disorders
Methylmalonic acidaemia, Propionic acidaemia, Isovaleric acidaemia
Benefits
MS/MS offers exceptional efficiency, processing hundreds of samples daily with minimal reagent use. The technology has demonstrated clear cost-effectiveness, with studies showing that for every £1 invested in MS/MS screening, healthcare systems save approximately £5-7 in treatment costs and lost productivity. Early detection through MS/MS has reduced mortality rates for certain metabolic disorders by up to 30%.
Sources: European Journal of Public Health (2020); International Journal of Neonatal Screening (2022); UK National Screening Committee Technical Report (2021)