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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 programmes. Utilising tandem mass spectrometry as well as establishing specific diagnostic pathways with second\u2010tier analyses, three German NBS centres designed and conducted an evaluation study for 18 candidate diseases, all of them inherited metabolic diseases. In total, 1\u2009777\u2009264 NBS samples were analysed. Overall, 441 positive NBS results were reported resulting in 68 confirmed diagnoses, 373 false\u2010positive cases and an estimated cumulative prevalence of approximately 1 in 26\u2009000 newborns. The positive predictive value ranged from 0.07 (carnitine transporter defect) to 0.67 (HMG\u2010CoA lyase deficiency). Three individuals were missed and 14 individuals (21%) developed symptoms before the positive NBS results were reported. The majority of tested candidate diseases were found to be suitable for inclusion in NBS programmes, while multiple acyl\u2010CoA dehydrogenase deficiency, isolated methylmalonic acidurias, propionic acidemia and malonyl\u2010CoA decarboxylase deficiency showed some and carnitine transporter defect significant limitations. Evaluation studies are an important tool to assess the potential benefits and limitations of expanding NBS programmes to new diseases.<\/jats:p>","DOI":"10.1002\/jimd.12671","type":"journal-article","created":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T04:20:01Z","timestamp":1692678001000},"page":"1043-1062","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4954-4901","authenticated-orcid":false,"given":"Esther M.","family":"Maier","sequence":"first","affiliation":[{"name":"Department of Inborn Errors of Metabolism Dr. von Hauner Children's Hospital  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"M\u00fctze","sequence":"additional","affiliation":[{"name":"Center for 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Medical Centre\u2010University of Freiburg, Faculty of Medicine  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia B.","family":"Hennermann","sequence":"additional","affiliation":[{"name":"Villa Metabolica, Center for Pediatric and Adolescent Medicine Mainz University Medical Center  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Freisinger","sequence":"additional","affiliation":[{"name":"Children's Hospital Reutlingen Klinikum am Steinenberg  Reutlingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Kr\u00e4mer","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine Ulm University Medical School  Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anibh M.","family":"Das","sequence":"additional","affiliation":[{"name":"Hanover Medical School Clinic for Pediatric Kidney\u2010Liver\u2010 and Metabolic Diseases  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Illsinger","sequence":"additional","affiliation":[{"name":"Hanover Medical School Clinic for Pediatric Kidney\u2010Liver\u2010 and Metabolic Diseases  Hanover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwendolyn","family":"Gramer","sequence":"additional","affiliation":[{"name":"Center for Pediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"},{"name":"University Medical Center Hamburg\u2010Eppendorf University Children's Hospital  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junmin","family":"Fang\u2010Hoffmann","sequence":"additional","affiliation":[{"name":"Center for Pediatric and Adolescent Medicine University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven 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