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Newborn screening using tandem mass spectrometry: A systematic review

Pandor, A., Eastham, J., Chilcott, J., Paisley, S. and Beverley, C. (2006) Newborn screening using tandem mass spectrometry: A systematic review. Discussion Paper. (Unpublished)

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Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).

Study design: Systematic review of published research.

Data sources: Studies were identified by searching 12 electronic bibliographic databases; conference proceedings and experts consulted.

Results: Six studies were selected for inclusion in the review. The evidence of neonatal screening for PKU and MCAD deficiency using tandem MS was primarily from observational data of large-scale prospective newborn screening programmes and systematic screening studies from Australia, Germany and the USA. Tandem MS based newborn screening of dried blood spots for PKU and/or MCAD deficiency was shown to be highly sensitive (>93.220%) and highly specific (>99.971%). The false positive rate for PKU screening was less than 0.046% and for MCAD deficiency the false positive rate was less than 0.023%. The positive predictive values ranged from 20 to 32% and 19 to 100%, respectively.

Conclusions: This review suggests that neonatal screening of dried blood spots using a single analytical technique (tandem MS) is highly sensitive and specific for detecting cases of PKU and MCAD deficiency, and provides a basis for modelling of the clinical benefits and potential costeffectiveness.

Item Type: Monograph (Discussion Paper)
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Health and Related Research (Sheffield) > Health Economics and Decision Science > HEDS Discussion Paper Series
Depositing User: ScHARR / HEDS (Sheffield)
Date Deposited: 22 Jun 2010 10:56
Last Modified: 08 Jun 2014 10:58
Status: Unpublished
Identification Number: HEDS Discussion Paper 06/03
URI: http://eprints.whiterose.ac.uk/id/eprint/10925

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