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 disabilities associated with these diseases. Such programmes should guarantee equitable and universal access for all newborns in the target population, and provide accurate information to parents so as to help them with their decision-making. The introduction of tandem mass spectrometry (MS/MS) marks a radical change in the screening of metabolic diseases because, in contrast to conventional methods, a high number of analytes associated with metabolic diseases can be detected by just one analytical procedure. Even so, newborn screening should not be initiated, unless the advantages to the newborn of early detection have been 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 disorders: carnitine uptake deficiency (CUD), short-chain acyl-CoA dehydrogenase deficiency (SCADD) and very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
Methods:
systematic literature review of 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), ISI Web of Science and Índice Médico Español (IME), among others). Two search strategies were used, 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 April 2014. After reading the abstracts of the resulting papers, 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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