ArticleInternational journal of neonatal screening2020
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
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Article in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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36citing papers in PubMed, 1 pooled it
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What it found
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The trial behind it
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.Journal of inherited metabolic disease · 2025Pooled it
- Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.Communications medicine · 2026Article
- A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.International journal of neonatal screening · 2026Article
- From targeted to genome-wide DNA testing in public health screening programs-an introduction to the special issue of the European Journal of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.Acta medica Philippina · 2026Article
- Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.Journal of clinical immunology · 2025Article
- Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.International journal of neonatal screening · 2025Article
- Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.International journal of neonatal screening · 2024Article
- Bioinformatics in Neonatal/Pediatric Medicine-A Literature Review.Journal of personalized medicine · 2024Review
- Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.Annals of clinical and translational neurology · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.International journal of neonatal screening · 2024Article
- Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.International journal of neonatal screening · 2024Article
- Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.Frontiers in genetics · 2024Article
- Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.International journal of neonatal screening · 2023Article
- Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.Biomedicines · 2023Article
- Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.International journal of neonatal screening · 2023Review
- Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.International journal of neonatal screening · 2023Review
Corrections and comments
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Authors and funding
33 authors.
Trine TangeraasNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).ORCID https://orcid.org/0000-0003-3137-2117
Ingjerd SævesNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Claus KlingenbergDepartment of Paediatrics, University Hospital of North Norway, 9019 Tromsø, Norway; Claus.Klingenberg@unn.no.ORCID https://orcid.org/0000-0001-6950-1573
Jens JørgensenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Erle KristensenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Gunnþórunn GunnarsdottirDepartment of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; gunngu@ous-hf.no (G.G.); rlilje@ous-hf.no (R.L.); trootwel@ous-hf.no (T.R.).
Eirik Vangsøy HansenDepartment of Paediatrics, Haukeland University Hospital, 5021 Bergen, Norway; eirik.vangsoey.hansen@helse-bergen.no.
Janne StrandNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Emma LundmanNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).ORCID https://orcid.org/0000-0003-0077-2265
Sacha FerdinandusseLaboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, University of Amsterdam, AZ 1105 Amsterdam, The Netherlands; s.ferdinandusse@amsterdamumc.nl.
Cathrin Lytomt SalvadorNorwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
Berit WoldsethNorwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
Yngve T BliksrudNorwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; catsal@ous-hf.no (C.L.S.); bwoldset@ous-hf.no (B.W.); ybliksru@ous-hf.no (Y.T.B.).
Carlos SagredoNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Øyvind E OlsenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Mona C BergeNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Anette Kjoshagen TrømborgNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Anders ZieglerNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Jin Hui ZhangNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Linda Karlsen SørgjerdNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Mari Ytre-ArneNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Silje HognerNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Siv M LøvollNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Mette R Kløvstad OlavsenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Dionne NavarreteNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Hege J GaupNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Rina LiljeDepartment of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; gunngu@ous-hf.no (G.G.); rlilje@ous-hf.no (R.L.); trootwel@ous-hf.no (T.R.).
Rolf H ZetterströmCentre for Inherited Metabolic Diseases, Karolinska University Hospital, Solna, Sweden, Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden; rolf.zetterstrom@sll.se.ORCID https://orcid.org/0000-0002-3016-0019
Asbjørg Stray-PedersenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Terje RootweltDepartment of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; gunngu@ous-hf.no (G.G.); rlilje@ous-hf.no (R.L.); trootwel@ous-hf.no (T.R.).
Piero RinaldoBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, NY 55902, USA; Rinaldo@mayo.edu.
Alexander D RoweNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).ORCID https://orcid.org/0000-0001-6509-1175
Rolf D PettersenNorwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, 0424 Oslo, Norway; insaev@ous-hf.no (I.S.); jejorgen@ous-hf.no (J.J.); erkris@ous-hf.no (E.K.); jstran@ous-hf.no (J.S.); emlund@ous-hf.no (E.L.); carsag@ous-hf.no (C.S.); oeols@ous-hf.no (Ø.E.O.); mocber@ous-hf.no (M.C.B.); ankjaa@ous-hf.no (A.K.T.); andzie@ous-hf.no (A.Z.); jinzha@ous-hf.no (J.H.Z.); likaso@ous-hf.no (L.K.S.); maytre@ous-hf.no (M.Y.-A.); silhog@ous-hf.no (S.H.); sivloe@ous-hf.no (S.M.L.); molafsen@ous-hf.no (M.R.K.O.); dionav@online.no (D.N.); junitagaup@hotmail.com (H.J.G.); astraype@ous-hf.no (A.S.-P.); alerow@ous-hf.no (A.D.R.); rdpetter@ous-hf.no (R.D.P.).
Funding
No grant is acknowledged in the PubMed record.
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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CLIRcut-off valuesdried blood spotsnewborn screeningoutcomesecond-tier DNA testing
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