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News archive - April/May 2012

Pilot to identify babies with rare conditions

Pilot to identify babies with rare conditions

MORE THAN 400,000 babies will be screened for debilitating, rare inherited conditions as part of a pilot to see if more rare illnesses can be identified early on and get babies the best treatment possible.

Currently every baby born in the UK - around 700,000 a year - is tested for one of five illnesses, including cystic fibrosis and sickle cell. The test - which is done through taking a pinprick of blood from the baby’s heel in their first week of life - will now be extended to include five more rare conditions in five pilot areas.

Each year, around a thousand children are diagnosed through this test with conditions like sickle cell and cystic fibrosis. This screening method means that babies are diagnosed early on and appropriate treatment and support is given.

The rare conditions that the pilots in Sheffield, Leeds, Manchester, Birmingham and some areas in London, will be screening for are Maple syrup urine disease, Homocystinuria, Glutaric acidaemia type 1, Isovaleric acidaemia and Long chain fatty acidaemia. The trial, which will run for one year from July 2012, will be funded by the National Institute of Health Research which is providing £600,000 to researchers based at Sheffield Children’s NHS Foundation Trust.

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