Newborns to be screened for four new genetic disorders

Newborn babies will be screened by the NHS for four more genetic disorders following advice from experts.

Heel prick test: NHS will screen for an expanded range of genetic disorders (photo: iStock)
Heel prick test: NHS will screen for an expanded range of genetic disorders (photo: iStock)

The current NHS Newborn Blood Spot Screening programme will be expanded to include homocystinuria, maple syrup urine disease, glutaric aciduria type 1, and isovaleric aciduria.

The move was recommended by the UK National Screening Committee, which said earlier detection and treatment would prevent disability and death from the disorders.

A pilot scheme by Sheffield Children’s NHS Foundation Trust has detected 47 possible and 20 confirmed cases of the rare genetic disorders among 700,000 babies screened across the country since July 2012.

Professor Jim Bonham from the trust, who led the pilot project, said its success was ‘fantastic news'.

He said: ‘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.’

The current newborn screening programme uses a heel prick blood test in babies aged five to eight days old to check for five conditions, including sickle cell disease and cystic fibrosis.

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