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Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations. The aim of t...

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Main Authors: Maier, Esther M. (Author) , Mütze, Ulrike (Author) , Janzen, Nils (Author) , Steuerwald, Ulrike (Author) , Nennstiel-Ratzel, Uta (Author) , Odenwald, Birgit (Author) , Schuhmann, Elfriede (Author) , Lotz-Havla, Amelie S. (Author) , Weiss, Katharina J. (Author) , Hammersen, Johanna (Author) , Weigel, Corina (Author) , Thimm, Eva (Author) , Grünert, Sarah (Author) , Hennermann, Julia B. (Author) , Freisinger, Peter (Author) , Krämer, Johannes (Author) , Das, Anibh M. (Author) , Illsinger, Sabine (Author) , Gramer, Gwendolyn (Author) , Fang-Hoffmann, Junmin (Author) , Garbade, Sven (Author) , Okun, Jürgen G. (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Röschinger, Wulf (Author)
Format: Article (Journal)
Language:English
Published: 2023
In: Journal of inherited metabolic disease
Year: 2023, Pages: 1-20
ISSN:1573-2665
DOI:10.1002/jimd.12671
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.12671
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12671
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Author Notes: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
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Summary:Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes 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 programmes. 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. In total, 1 777 264 NBS samples were analysed. Overall, 441 positive NBS results were reported resulting in 68 confirmed diagnoses, 373 false-positive cases and an estimated cumulative prevalence of approximately 1 in 26 000 newborns. The positive predictive value ranged from 0.07 (carnitine transporter defect) to 0.67 (HMG-CoA 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-CoA dehydrogenase deficiency, isolated methylmalonic acidurias, propionic acidemia and malonyl-CoA 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.
Item Description:Vor der Veröffentlichung im Heft online veröffentlicht: 21. August 2023
Gesehen am 20.10.2023
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.12671

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