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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2020-06-01
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| author | 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 |
| author_facet | 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 |
| author_sort | Trine Tangeraas |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T18:51:53Z |
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| id | doaj.art-ee83f4da7b56404183a2012eb12ea9e8 |
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| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T18:51:53Z |
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| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-ee83f4da7b56404183a2012eb12ea9e82023-11-20T05:08:32ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-06-01635110.3390/ijns6030051Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA AnalysesTrine Tangeraas0Ingjerd Sæves1Claus Klingenberg2Jens Jørgensen3Erle Kristensen4Gunnþórunn Gunnarsdottir5Eirik Vangsøy Hansen6Janne Strand7Emma Lundman8Sacha Ferdinandusse9Cathrin Lytomt Salvador10Berit Woldseth11Yngve T. Bliksrud12Carlos Sagredo13Øyvind E. Olsen14Mona C. Berge15Anette Kjoshagen Trømborg16Anders Ziegler17Jin Hui Zhang18Linda Karlsen Sørgjerd19Mari Ytre-Arne20Silje Hogner21Siv M. Løvoll22Mette R. Kløvstad Olavsen23Dionne Navarrete24Hege J. Gaup25Rina Lilje26Rolf H. Zetterström27Asbjørg Stray-Pedersen28Terje Rootwelt29Piero Rinaldo30Alexander D. Rowe31Rolf D. Pettersen32Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Paediatrics, University Hospital of North Norway, 9019 Tromsø, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Paediatrics, Haukeland University Hospital, 5021 Bergen, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayLaboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, University of Amsterdam, AZ 1105 Amsterdam, The NetherlandsNorwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayCentre for Inherited Metabolic Diseases, Karolinska University Hospital, Solna, Sweden, Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, SwedenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayDepartment of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55902, USANorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, NorwayIn 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.https://www.mdpi.com/2409-515X/6/3/51newborn screeningdried blood spotscut-off valuesCLIRsecond-tier DNA testingoutcome |
| spellingShingle | 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 Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses International Journal of Neonatal Screening newborn screening dried blood spots cut-off values CLIR second-tier DNA testing outcome |
| title | Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses |
| title_full | Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses |
| title_fullStr | Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses |
| title_full_unstemmed | Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses |
| title_short | Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses |
| title_sort | performance of expanded newborn screening in norway supported by post analytical bioinformatics tools and rapid second tier dna analyses |
| topic | newborn screening dried blood spots cut-off values CLIR second-tier DNA testing outcome |
| url | https://www.mdpi.com/2409-515X/6/3/51 |
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