Esther M Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfriede Schuhmann, Amelie S Lotz-Havla, Katharina J Weiss, Johanna Hammersen, Corina Weigel, Eva Thimm, Sarah C Grünert, Julia B Hennermann, Peter Freisinger, Johannes Krämer, Anibh M Das, Sabine Illsinger, Gwendolyn Gramer, Junmin Fang-Hoffmann, Sven F Garbade, Jürgen G Okun, Georg F Hoffmann, Stefan Kölker, Wulf Röschinger
Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programs worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality, and possible health benefits to balance benefits and limitations. The aim of this study was to evaluate the suitability of 18 candidate diseases for inclusion in NBS programs. Utilising tandem mass spectrometry as well as establishing specific diagnostic pathways with second-tier analyses, three German NBS centres designed and conducted an evaluation study for 18 candidate diseases, all of them inherited metabolic diseases...
August 21, 2023: Journal of Inherited Metabolic Disease