New screening programmes announced for newborns

Newborn children across the country are to be screened for four additional genetic disorders following a recommendation from the UK National Screening Committee.

Under the plans, the current NHS Newborn Blood Spot Screening programme will be expanded to include checks for homocystinuria, maple syrup urine disease, glutaric aciduria type 1 and isovaleric acidaemia.

Early signs of these diseases will screened in addition to phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency, which are currently part of the screening programme.

It is hoped that this will ensure these conditions are detected and treated as early as possible, preventing children from dying or suffering disability as a result of these conditions.

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."

The committee also recently recommended piloting the use of the pulse oximetry test to evaluate the potential benefits of its use as a new screening test for congenital heart disease.