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09/05/2014
Screening Which Detects Life Threatening Diseases To Be Rolled Out Nationally
The lives of twenty children have been radically transformed by a pioneering screening project which detects rare life threatening diseases in babies and today ministers have announced that the screening will be rolled out across England.
Babies across the UK will be screened for a further four conditions as part of the national newborn bloodspot screening programme following a pilot led by Sheffield Children's NHS Foundation Trust.
The conditions being tested for are: maple syrup urine disease (MSUD), homocystinuria (HCU), glutaric aciduria type 1(GA1) and isovaleric acidaemia (IVA).
Since the start of the pilot in July 2012 more than 700,000 children have been tested for these disorders and 47 possible cases identified with 20 confirmed.
Had the metabolic conditions not been detected immediately the children would have died or been severely disabled for the rest of their lives.
Professor Jim Bonham, national lead for the project and director for newborn screening at Sheffield Children's NHS Foundation 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.
"With the help of specialist metabolic physicians these children can be managed at home to allowing them to live healthy and happy lives.
"Importantly all newborn babies will now be checked for these conditions in addition to the current five for which every newborn is already screened."
The study involved six centres in England at Leeds, Sheffield, Manchester, Birmingham, Great Ormond Street and London's Guys and St Thomas.
(CVS/CD)
Babies across the UK will be screened for a further four conditions as part of the national newborn bloodspot screening programme following a pilot led by Sheffield Children's NHS Foundation Trust.
The conditions being tested for are: maple syrup urine disease (MSUD), homocystinuria (HCU), glutaric aciduria type 1(GA1) and isovaleric acidaemia (IVA).
Since the start of the pilot in July 2012 more than 700,000 children have been tested for these disorders and 47 possible cases identified with 20 confirmed.
Had the metabolic conditions not been detected immediately the children would have died or been severely disabled for the rest of their lives.
Professor Jim Bonham, national lead for the project and director for newborn screening at Sheffield Children's NHS Foundation 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.
"With the help of specialist metabolic physicians these children can be managed at home to allowing them to live healthy and happy lives.
"Importantly all newborn babies will now be checked for these conditions in addition to the current five for which every newborn is already screened."
The study involved six centres in England at Leeds, Sheffield, Manchester, Birmingham, Great Ormond Street and London's Guys and St Thomas.
(CVS/CD)
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