A UK national programme to screen all newborn infants for phenylketonuria was introduced in 1969, followed in 1981 by a similar programme for congenital hypothyroidism.
Decisions to start these national programmes were informed by evidence from observational studies rather than randomised controlled trials.
Subsequently, outcome for affected children has been assessed through national disease registers, from which inferences about the effectiveness of screening have been made.
Both programmes are based on a single blood specimen, collected from each infant at the end of the first week of life, and stored as dried spots on a filter paper or'Guthrie'card.
This infrastructure has made it relatively easy for routine screening for other conditions to be introduced at a district or regional level, resulting in inconsistent policies and inequitable access to effective screening services.
This variation in screening practices reflects uncertainty and the lack of a national framework to guide the introduction and evaluation of new screening initiatives, rather than geographical variations in disease prevalence or severity.
More recently, developments in tandem mass spectrometry have made it technically possible to screen for several inborn errors of metabolism in a single analytical step.
However, for each of these conditions, evidence is required that the benefits of screening outweigh the harms. (...)
Mots-clés Pascal : Programme sanitaire, Dépistage, Evaluation, Nouveau né, Homme, Déficit, Acyl-CoA dehydrogenase, Oxidoreductases, Enzyme, Lipide, Nouveau né pathologie, Métabolisme pathologie, Hypolipémie, Enzymopathie, Maladie héréditaire
Mots-clés Pascal anglais : Sanitary program, Medical screening, Evaluation, Newborn, Human, Deficiency, Acyl-CoA dehydrogenase, Oxidoreductases, Enzyme, Lipids, Newborn diseases, Metabolic diseases, Hypolipemia, Enzymopathy, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0110084
Code Inist : 002B22D02. Création : 16/11/1999.