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

1
Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
2
Department of Paediatrics, University Hospital of North Norway, 9019 Tromsø, Norway
3
Paediatric Research Group, Department of Clinical Medicine, UiT The Artic University of Norway, 9019 Tromsø, Norway
4
Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
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Department of Paediatrics, Haukeland University Hospital, 5021 Bergen, Norway
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Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, University of Amsterdam, AZ 1105 Amsterdam, The Netherlands
7
Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway
8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Solna, Sweden, Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden
9
Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway
10
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55902, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(3), 51; https://doi.org/10.3390/ijns6030051
Received: 15 May 2020 / Revised: 12 June 2020 / Accepted: 22 June 2020 / Published: 27 June 2020
(This article belongs to the Special Issue CLIR Applications for Newborn Screening)
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 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. View Full-Text
Keywords: newborn screening; dried blood spots; cut-off values; CLIR; second-tier DNA testing; outcome newborn screening; dried blood spots; cut-off values; CLIR; second-tier DNA testing; outcome
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Tangeraas, T.; Sæves, I.; Klingenberg, C.; Jørgensen, J.; Kristensen, E.; Gunnarsdottir, G.; Hansen, E.V.; Strand, J.; Lundman, E.; Ferdinandusse, S.; Salvador, C.L.; Woldseth, B.; Bliksrud, Y.T.; Sagredo, C.; Olsen, Ø.E.; Berge, M.C.; Trømborg, A.K.; Ziegler, A.; Zhang, J.H.; Sørgjerd, L.K.; Ytre-Arne, M.; Hogner, S.; Løvoll, S.M.; Kløvstad Olavsen, M.R.; Navarrete, D.; Gaup, H.J.; Lilje, R.; Zetterström, R.H.; Stray-Pedersen, A.; Rootwelt, T.; Rinaldo, P.; Rowe, A.D.; Pettersen, R.D. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. Int. J. Neonatal Screen. 2020, 6, 51.

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