On Friday 9 May 2014 the UK National Screening Committee (UK NSC) announced its recommendation that every newborn baby in England should be offered screening for four additional disorders:

  • Homocystinuria (HCU)
  • Maple Syrup Urine Disease (MSUD)
  • Glutaric Aciduria type 1 (GA1)
  • Isovaleric Aciduria (IVA)

This means that from early 2015 the NHS Newborn Blood Spot Screening Programme in England will offer screening for a total of nine disorders. Visit News

This page was updated on 13 July 2014


Newborn bloodspot screening is used to identify babies who have rare but serious conditions.

We have now completed a pilot project that evaluated whether  newborn screening should be expanded to include a further five rare conditions.

The outcome of the project is that screening for four of the conditions will be offered in England from early 2015.  Screening for the four conditions is already available at the projec pilot sites.

This website provides information developed during the pilot project for parents and professionals on the newborn screening process, the rare conditions which are being tested, and the research study.

Please note that this website is no longer being actively managed but is being maintained for information.

Last updated on 13 Sept 2014.

I want to find out more about rare diseases

I want to find out more about the screening process

I want to find out more about the rare conditions that are being tested for:

note that from 1 September 2014 screening laboratories in England do not screen for LCHADD. Details of the condition are provided for information only.

I want to find out more about the research study