Newborn Screening - Areas in Pilot

In 2004 a study began which led to the successful introduction of screening for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in England. Since then around 500 cases of MCADD have been identified and treated. It was known at the time that much rarer conditions would also benefit greatly from early detection, and could be identified using the same blood spot sample.

After careful consideration and discussion with the National Screening Committee (NSC) and the Health Technology Assessment programme, it was agreed to undertake an evaluation of screening for an additional five very rare conditions. These specific conditions already form part of newborn screening programmes in both the USA and Europe.

The additional conditions being screened are:

  • Maple syrup urine disease (MSUD)
  • Homocystinuria, pyridoxine unresponsive, (Hcys)
  • Glutaric aciduria type 1 (GA1)
  • Isovaleric acidaemia (IVA)
  • Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

While clearly beneficial for the children and families detected, taken together these conditions are expected to identify only 25 cases each year in the UK, approximately 1 in 30,000 of those tested, or around two or three in a typical screening laboratory region.

Studies undertaken in focus groups and published in Health Expect. 2011 Aug 12. 10.1111/j.1369 – 7625; indicated that women want to know that the pilot evaluation is taking place and be given the right to accept or decline if they wished.

The pilot will take place from  16th July 2012 until 31st March 2014 in six screening laboratories and the areas they serve. These are:

  • Leeds
  • Manchester
  • Sheffield
  • Birmingham
  • London (St Thomas)
  • London (GOSH)

Approximately 750,000 babies will be screened for the five extra conditions, if mothers/parents consent, during this time.