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...
Dan Med J 2020;67(1):A06190341