Expanded newborn screening

Authors: Dr Hilary Burton and Dr Sowmiya Moorthie

Expanded newborn screening: A review of the evidence is a systematic review of the evidence to support expansion of current UK newborn screening provision to include any of five additional forms of inherited metabolic disease (IMDs). These rare disorders could all be screened for using tandem mass spectrometry (MS/MS) techniques already in use for screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD), and are considered by laboratory and clinical experts to be priority conditions.

The Report includes analysis of the probable benefits, harms and costs of expanding newborn screening to include each of these five conditions, and of the steps needed before any change to the existing service could be implemented. The findings and recommendations of the Report were originally presented to the UK Newborn Screening Committee in March 2010.

This work was funded by the National Institute for Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care, South Yorkshire (CLAHRC-SY).

How to reference this report: Expanded newborn screening: A review of the evidence. Burton H, Moorthie S. PHG Foundation (2010). ISBN 978-1-907198-03-8

For further information about the report, please contact Dr Hilary Burton

For members of the media, please contact the PHG Foundation press office on 07505092081

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