Published August 11, 2025 | Version v1
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Newborn screening for urea cycle disorders

Description

This document discusses the findings of an evidence map completed by the Bristol Evidence Synthesis for Screening (BESS) Group, hosted at the University of Bristol, on newborn screening for urea cycle disorders (UCDs). The evidence map was commisionned by the UK National Screening Committee (UK NSC) to assess whether a more sustained review on newborn screening for UCDs should be conducted and to evaluate the volume and type of evidence on key issues related to newborn screening for UCDs.

Based on the findings of this evidence map, the authors’ recommendation is that current evidence does not support the commissioning of further synthesis work on newborn screening for UCDs at the present time, as it is unlikely that the findings would be significantly different to this evidence map. This recommendation was accepted by the UK NSC committee in June 2025. 

This report was commissioned by the NIHR Evidence Synthesis Programme. The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care.

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UCD Evidence Map_Final_June 2025_Zenodo.pdf

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Dates

Created
2025-06