International Journal of Neonatal Screening (Jun 2020)
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
- 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
Affiliations
- Trine Tangeraas
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Ingjerd Sæves
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Claus Klingenberg
- Department of Paediatrics, University Hospital of North Norway, 9019 Tromsø, Norway
- Jens Jørgensen
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Erle Kristensen
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Gunnþórunn Gunnarsdottir
- Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Eirik Vangsøy Hansen
- Department of Paediatrics, Haukeland University Hospital, 5021 Bergen, Norway
- Janne Strand
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Emma Lundman
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Sacha Ferdinandusse
- Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, University of Amsterdam, AZ 1105 Amsterdam, The Netherlands
- Cathrin Lytomt Salvador
- Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway
- Berit Woldseth
- Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway
- Yngve T. Bliksrud
- Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway
- Carlos Sagredo
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Øyvind E. Olsen
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Mona C. Berge
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Anette Kjoshagen Trømborg
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Anders Ziegler
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Jin Hui Zhang
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Linda Karlsen Sørgjerd
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Mari Ytre-Arne
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Silje Hogner
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Siv M. Løvoll
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Mette R. Kløvstad Olavsen
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Dionne Navarrete
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Hege J. Gaup
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Rina Lilje
- Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Rolf H. Zetterström
- Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Solna, Sweden, Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden
- Asbjørg Stray-Pedersen
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Terje Rootwelt
- Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Piero Rinaldo
- Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55902, USA
- Alexander D. Rowe
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- Rolf D. Pettersen
- Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway
- DOI
- https://doi.org/10.3390/ijns6030051
- Journal volume & issue
-
Vol. 6,
no. 3
p. 51
Abstract
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.
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