This article was last reviewed on
This article waslast modified on 10 July 2017.

Nearly all babies born in the UK during the last ten years have had a few drops of blood taken from a heel prick on to an absorbent card to screen for five rare inherited diseases: phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

On 20 April 2012 we reported in a news item that the UK National Screening Committee was to carry out a pilot study to assess expansion of the program with tests for homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1), isovaleric aciduria (IVA) and long chain hydroxyacyl CoA dehydrogenase deficiency (LCHADD) . Early treatment and careful management of these very rare conditions with special diets and, in some cases, supplementary vitamins or medicines can allow affected babies to develop normally. However, the children may still become very unwell during illnesses such as chest infections and require emergency treatment.

On 9 May 2014 Public Health England reported that the Screening Committee had recommended the addition of the first four of the five tests investigated. LCHADD was not included because screening failed to detect any babies who had not already been recognised by clinical staff. Information for parents and professionals about the symptoms and treatment of the rare diseases now included in the expanded screening programme has been published by the NHS National Institute for Health Research.

Dr Anne Mackie, Director of Programmes for the UK National Screening Committee, said: “Since the start of the pilot in July 2012 more than 700,000 children in England have been tested for these disorders and 47 possible cases identified with 20 confirmed. We will help similar numbers each year now the extension is being rolled out.”

Professor Jim Bonham, National Lead for the pilot project, said “We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life.”