Press release

430,000 babies to be screened for five extra rare conditions in newborn screening pilot

More than 400,000 babies will be screened for debilitating, rare inherited conditions as part of a ground-breaking pilot to see if more rare illnesses can be identified early on and get babies the best treatment possible so they stand a good chance of leading long, happy lives.

This was published under the 2010 to 2015 Conservative and Liberal Democrat coalition government


Currently every baby born in the UK - around 700,000 a year - is tested for one of five illnesses, including cystic fibrosis and sickle cell.

The test - which is done through taking a pinprick of blood from the baby’s heel in their first week of life - will now be extended to include five more rare conditions in five pilot areas.

Each year, around a thousand children are diagnosed through this test with conditions like sickle cell and cystic fibrosis. This screening method means that babies are diagnosed early on and appropriate treatment and support is given.

The new conditions that the pilots in Sheffield, Leeds, Manchester, Birmingham and some areas in London, will be screening for are:

  • Maple syrup urine disease - 1 in 120,000  births
  • Homocystinuria - 1 in every 100,000 births
  • Glutaric acidaemia type 1 -1 in 100,000 births
  • Isovaleric acidaemia - 1 in 100,000 births
  • Long chain fatty acidaemia - 1 in 100,000 live births in the UK

The pilot scheme will help babies get the important treatment they need.

The trial, which will run for one year from July 2012, will be funded by the National Institute of Health Research which is providing £600,000 to researchers based at Sheffield Children’s NHS Foundation Trust. The results of the trial will be evaluated after a year and results will be considered by the UK National Screening Committee.

The move comes as the UK National Screening Committee celebrates the 10th anniversary of the newborn screening programme.

Professor Dame Sally Davies, Chief Medical Officer for England, said:

“This is a fantastic step forward for the newborn screening programme and shows the NHS at the cutting-edge. This pilot will identify more babies with serious conditions, giving them the chance to live a long, healthy life.”

Dr Anne Mackie, Director of Programmes for the UK National Screening Committee, said:

“This pilot will gather evidence so we can understand whether offering tests for these conditions to a whole population is of overall benefit.  The UK is a world-leader in screening policy and this is, in large part, due to our rigorous evidence-based approach which requires not only that any screening test be very accurate, but also that there are treatment options available for anyone diagnosed.

“We look forward to reviewing the findings of this study.”
Notes to Editors
1. Through the current newborn screening programme 700,000 children are already screened each year for:

  • sickle cell - affects about 1 in 2000 babies born in the UK (about 350 babies a year)
  • cystic fibrosis - affects 1 in 2,500 babies born in England (about 250 babies a year)
  • phenylketonuria (PKU) - affects 1 in 10,000 babies born in the UK (about 80 babies a year)
  • congenital hypothyroidism (CHT) - affects 1 in 4,000 babies born in the UK (about 180 babies a year)
  • medium chain acyl-CoA dehydrogenase deficiency (MCADD) - affects1 in 10,000 babies born in the UK (about 70 babies a year).

2. For further media enquiries please contact the Department of Health press office on 020 7210 5221.

Published 8 April 2012