Lifesaving tests to be expanded

Xander and Max Tattersall
Xander and Max Tattersall

A screening programme trialled in Sheffield to test for life-threatening diseases in babies is being rolled out nationwide.

Babies across the UK will be tested for a further four conditions as a matter of routine following a pilot led by Sheffield Children’s Hospital.

The roll-out, which adds to the existing national newborn bloodspot screening programme, means more youngsters will be protected from the risk of death or severe disability.

Since the start of the pilot two years ago, more than 700,000 children have been tested for the four rare disorders, with nearly 50 possible cases found and 20 confirmed.

The illnesses which will now be tested for nationally are maple syrup urine disease, homocystinuria, glutaric aciduria type 1 and isovaleric acidaemia.

Currently newborns are screened for five conditions, including cystic fibrosis and sickle cell disease.

Youngsters diagnosed in Sheffield include Xander Tattersall, aged seven, and his brother Max, four, from Gawber, Barnsley, who were found to have homocystinuria following a test.

The inherited metabolic disorder prevents the body from processing a vital amino acid essential for growth and development.

Prof Jim Bonham, national lead for the project and director for newborn screening at the hospital trust, said: “This is fantastic news and everyone who has been involved in the pilot should be really proud of the part they have played in this development.

“As a result of this study 20 children with serious but treatable disorders were discovered. 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.

“Had it not been for the pilot scheme these children and their families’ lives would have been very different.”

Medics in Leeds, Manchester, Birmingham and London also worked on the project.