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Danish expanded newborn screening is a successful preventive public health programme

Allan Lund1, Flemming Wibrand2, Kristin Skogstrand3, Arieh Cohen3, Mette Christensen2, Rie Bak Jäpelt2, Morten Dunø4, Flemming Skovby5,
Bent Nørgaard-Pedersen3, Niels Gregersen6, Brage Storstein Andresen7, Rikke Katrine Jentoft Olsen6 & David Hougaard3 1) Center for Inherited Metabolic Disorders, Departments of Clinical Genetics and Pediatrics, Rigshospitalet 2) Metabolic Laboratory, Department of Clinical Genetics, Rigshospitalet3) Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut4) Molecular Genetics Laboratory, Department of Clinical Genetics, Rigshospitalet 5) Clinical Genetic Unit, Department of Pediatrics, Zealand University Hospital, Roskilde 6) Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University 7) Department of Biochemistry and Molecular Biology, University of Southern Denmark, Denmark

Dan Med J 2020;67(1):A06190341
Newborn screening (NBS) is a public health programme for early diagnosis of treatable, mostly genetic, diseases, such as inherited metabolic diseases (IEM). Early treatment in a latent disease stage can prevent disease manifestations, which for diseases on many NBS panels include irreversible brain and organ damage and death [1-3]. Internationally, NBS was started > 50 years ago and in Denmark for phenylketonuria (PKU) in 1975. NBS for PKU became the paradigm for a well-functioning, cost-effective screening. It enabled expansion of the disorders screened for: in Denmark, hypothyroidism...
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Dan Med J 2020;67(1):A06190341


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