New Sheffield baby tests could ‘transform lives’

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MEDICAL researchers leading a groundbreaking new baby testing programme say it could save children from a lifetime of disability.

Thousands of newborn babies across the country are to be screened for five rare diseases in a project to see if undiagnosed illnesses can be prevented from developing in children.

Around 430,000 newborns will be tested in the year-long study, and some children are expected to be diagnosed and treated early enough to help transform their lives.

Dr Jim Bonham, who is leading the national project at Sheffield Children’s NHS Foundation Trust, said: “We are pleased to be launching this evaluation to learn more about the results we can get by screening for five further rare conditions.

“We already screen for regular conditions such as cystic fibrosis and sickle cell disorders but many other countries screen for many more, transforming the lives of some children. We hope to do the same.

“These are metabolic conditions which can eventually lead to children being severely disabled.

“In some children symptoms would not show until the age of one but then their condition could be potentially devastating.

“If we know about the condition early enough we can treat these children and ensure that as many as possible lead normal lives.

“If they are not diagnosed early in life sometimes the consequences can be quite devastating.”

At the end of the study, the National Screening Committee will determine whether the new conditions should form a regular part of the national screening programme in England.

The new tests will screen for maple syrup urine disease, homocystinuria, glutaric aciduria type one, isovaleric acidaemia and long chain hydroxylacyl CoA dehydrogenase deficiency - which each occur in fewer than one in 100,000 children.