Summary

Introduction: The goal of newborn screening programmes is to ensure the presymptomatic identification and early treatment of treatable congenital disorders, in order to reduce morbidity-mortality and possible disabilities associated with these diseases. Such programmes must 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 mass spectrometry marks a radical change in the screening of metabolic diseases (or congenital metabolic diseases) because, as compared to conventional methods, a high number of analytes associated with metabolic diseases can be detected by just one analytical procedure. Nevertheless, newborn disease 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 congenital errors of metabolism: maple syrup urine disease; homocystinuria; glutaric aciduria type I; isovaleric aciduria; and long-chain 3-hydroxyacyl CoA dehydrogenase deficiency.

Methods: Systematic literature review of the principal biomedical databases (Medline, Embase, Cochrane Library Plus, Health Technology Assessment, Database of Abstracts of Reviews of Effects, National Health Service Economic Evaluation Database, ISI Web of Science and Índice Médico Español, among others). To retrieve all existing systematic reviews and assessment reports on congenital errors of metabolism screening programmes, we updated the bibliographic search of the avalia-t report from 1 January 2006 to September 2012. We also conducted specific searches targeting the natural history, epidemiology, analytical validity and clinical utility of the screening of each disease assessed, in order to update the PHG Foundation report from 1 January 2009 to September 2012. After perusal of the abstracts of the resulting papers, studies were selected on the basis of a series of inclusion/exclusion criteria.

Results, discussion and conclusion see pdf below