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Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for &gt;20 markers of disease in a single assay. We report here key developments in the introduction and validation of MS-MS screening during a &gt;4 year of experience in Bavaria, Germany. We identified confirmed cases of treatable inborn errors of metabolism at a cumulative rate of 1:2700 (out of 525,000 newborns). This rate is considerably higher than previously recognized by combined data from traditional newborn screening and high-risk clinical screening of symptomatic patients in the same area. The application of MS-MS also made a major impact on the early detection of disease classes such as the fatty acid oxidation defects, that are associated with high mortality if left unrecognized. The overall highly favorable outcome of our model program was instrumental to advise this technique as standard care methodology in Germany.

laboratoriumsmedizin

Newborn screening for inborn errors of metabolism with tandem mass spectrometry in Bavaria, Germany. Neugeborenen-Screening auf angeborene Stoffwechselerkrankungen mit Tandem-Massenspektrometrie in Bayern (Deutschland)