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Thursday 22nd August 2019

Pilot scheme to test babies for more inherited diseases

10th April 2012

A pilot scheme starting in July will be run by the NHS in order to test over half the babies born in the UK for five inherited diseases.


The pilot will test around 430,000 babies born in the UK for the diseases using a blood sample.

Of the 700,000 babies born in the UK annually, each is tested for inherited diseases such as cystic fibrosis.

As a result of the screening, around 1,000 babies are found to have a disorder. The new pilot scheme will tests for five more disorders: three kinds of acidaemia, homocystinuria and maple syrup urine disease.

The pilot will be carried out in Birmingham, Leeds, Manchester, Sheffield and in some parts of London from July 2012.

The scheme has received funding from the National Institutes of Health Research, which has given £600,000 to researchers at the Sheffield Children's NHS Foundation Trust.

The UK National Screening Committee (NSC) will look at the results of the pilot at the end of the year-long trial.

Professor Dame Sally Davies, Chief Medical Officer for England, said: "This is a fantastic step forward for the newborn screening programme and shows the NHS at the cutting edge."

"This pilot will identify more babies with serious conditions, giving them the chance to live a long, healthy life."

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