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dc.contributor.authorTangeraas, Trine
dc.contributor.authorSæves, Ingjerd
dc.contributor.authorKlingenberg, Claus
dc.contributor.authorJørgensen, Jens
dc.contributor.authorKristensen, Erle
dc.contributor.authorGunnarsdottir, Gunnþórunn
dc.contributor.authorHansen, Eirik Vangsøy
dc.contributor.authorStrand, Janne Maren
dc.contributor.authorLundman, Emma
dc.contributor.authorFerdinandusse, Sacha
dc.contributor.authorSalvador, Cathrin Lytomt
dc.contributor.authorWoldseth, Berit
dc.contributor.authorBliksrud, Yngve Thomas
dc.contributor.authorSagredo, Carlos
dc.contributor.authorOlsen, Øyvind Edon
dc.contributor.authorBerge, Mona C.
dc.contributor.authorTrømborg, Anette Kjoshagen
dc.contributor.authorZiegler, Anders
dc.contributor.authorZhang, Jin Hui
dc.contributor.authorSørgjerd, Linda Karlsen
dc.contributor.authorYtre-Arne, Mari Eknes
dc.contributor.authorHogner, Silje
dc.contributor.authorLøvoll, Siv M.
dc.contributor.authorOlavsen, Mette R. Kløvstad
dc.contributor.authorNavarrete, Dionne
dc.contributor.authorGaup, Hege Junita
dc.contributor.authorLilje, Rina
dc.contributor.authorZetterström, Rolf H.
dc.contributor.authorStray-Pedersen, Asbjørg
dc.contributor.authorRootwelt-Revheim, Terje
dc.contributor.authorRinaldo, Piero
dc.contributor.authorRowe, Alexander D.
dc.contributor.authorPettersen, Rolf D.
dc.date.accessioned2021-04-09T12:00:30Z
dc.date.available2021-04-09T12:00:30Z
dc.date.issued2020-06-27
dc.description.abstractIn 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 screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis. Eighty-two percent of the TP cases had good health outcomes, evaluated in 2020. The yearly positive predictive value was increased from 26% to 54% by the use of the Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR), second-tier biochemical testing and genetic confirmation using DNA extracted from the original dried blood spots. The incidence of IEMs increased by 46% after eNBS was introduced, predominantly due to the finding of attenuated phenotypes. The next step is defining which newborns would truly benefit from screening at the milder end of the disease spectrum. This will require coordinated international collaboration, including proper case definitions and outcome studies.en_US
dc.identifier.citationTangeraas, Sæves, Klingenberg, Jørgensen, Kristensen, Gunnarsdottir, Hansen, Strand, Lundman, Ferdinandusse, Salvador, Woldseth, Bliksrud, Sagredo, Olsen, Berge, Trømborg, Ziegler, Zhang, Sørgjerd, Ytre-Arne, Hogner, Løvoll, Olavsen, Navarrete, Gaup, Lilje, Zetterström, Stray-Pedersen, Rootwelt-Revheim, Rinaldo, Rowe, Pettersen. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. International Journal of Neonatal Screening (IJNS). 2020en_US
dc.identifier.cristinIDFRIDAID 1900463
dc.identifier.doi10.3390/ijns6030051
dc.identifier.issn2409-515X
dc.identifier.urihttps://hdl.handle.net/10037/20838
dc.language.isoengen_US
dc.publisherMDPIen_US
dc.relation.journalInternational Journal of Neonatal Screening (IJNS)
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2020 The Author(s)en_US
dc.subjectVDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710en_US
dc.subjectVDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710en_US
dc.titlePerformance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analysesen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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