Study designs of evaluations included in the review
No inclusion criteria relating to the study design were specified.
Specific interventions included in the review
The studies were of neonatal screening for inborn errors of metabolism. The screening technologies considered included: automation of process, molecular (DNA) techniques, tandem mass spectrometry (MS), Gutrie bacterial inhibition assay, chromatography, fluorimetry, radioimmunoassay, enzymology, and immunoassay based on time-resolved fluorimetry. COMPARED>>
Reference standard test against which the new test was compared
It was unclear whether diagnostic accuracy studies were included in the review. No inclusion criteria for the reference standard or method of establishing diagnosis in the included studies were reported.
Participants included in the review
Studies of newborn infants screened for inborn errors of metabolism were eligible for inclusion. Such errors of metabolism included: phenylketonuria (PKU), amino acidopathies, disorders of carbohydrate metabolism, disorders of organic acid metabolism, fatty acid oxidation defects, disorders of adrenal steroidogenesis, lipoprotein disorders, peroxisomal disorders, disorders of the urea cycle, respiratory chain or tricarboxylic acid cycle disorders, trace metal disorders, purine or pyrimidine disorders, and lysosomal disorders.
Outcomes assessed in the review
Any studies that contained data on population incidence, the effectiveness of screening, health outcomes, or screening and treatment costs for inborn errors of metabolism were included, as were all studies that described defined suitable screening technologies for blood samples. Different outcome measures relating to morbidity and mortality, specific to each type of inborn error of metabolism, were reported.
How were decisions on the relevance of primary studies made?
Two reviewers evaluated citations and abstracts of references identified. A copy of the full paper was obtained and assessed where there was insufficient information in the abstracts.