Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were...

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Main Authors: Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen
פורמט: Artigo
שפה:Inglês
יצא לאור: MDPI AG 2020-06-01
סדרה:International Journal of Neonatal Screening
נושאים:
newborn screening
dried blood spots
cut-off values
CLIR
second-tier DNA testing
outcome
גישה מקוונת:https://www.mdpi.com/2409-515X/6/3/51
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