Introduction: The goal of newborn screening programmes is to ensure presymptomatic identification and early treatment of treatable congenital disorders, in order to reduce morbidity-mortality and possible impairments and disabilities associated with these diseases. All newborns in the target population must be assured of equitable and universal access to such programmes, and parents must be provided with accurate information to help them with their decision-making. The introduction of tandem mass spectrometry (MS/MS) marks a radical change in newborn screening programmes that target inherited metabolic disorders because, in contrast to conventional methods, a high number of metabolic-disorder markers can now be detected by using just one analytical procedure. Even so, newborn disease screening should in no case be initiated, unless the advantages of early detection to the newborn are clearly defined and guarantees are in place to ensure appropriate diagnosis, follow-up and treatment of all children detected by the health-care system.
Objectives: To assess the clinical effectiveness of newborn screening of the following metabolic disorders, namely, 3-hydroxy-3-methylglutaric aciduria and beta-ketothiolase deficiency.
Methods: Systematic review of the literature, covering the principal biomedical databases (Medline, Embase, Cochrane Library Plus, HTA (Health Technology Assessment), DARE (Database of Abstracts of Reviews of Effectiveness), NHS EED (NHS Economic Evaluation Database) and ISI Web of Science, among others). We used two search strategies, one -with no time limit- centred on epidemiology, natural history, morbidity, mortality, diagnosis and treatment, and the other centred on the screening of each disease. To retrieve all existing systematic reviews and assessment reports on inborn errors of metabolism screening programmes, we updated the bibliographic search of the avalia-t reports until February 2014. After reading the abstracts of the papers retrieved, studies that met the pre-established inclusion/exclusion criteria were selected. Subsequently, this procedure was completed by a manual review of the bibliographic references cited in the papers selected.
Results, discussion and conclusions: see pdf summary below.
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