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Newborn screening tests to be expanded

Newborn screening to be expanded in pilot study

By James Gallagher Health and science reporter, BBC News

The number of genetic diseases for which newborn babies are tested is to double in a pilot study by the Department of Health.

About 700,000 babies in the UK are tested for genetic conditions such as cystic fibrosis every year.

Now an additional five debilitating disorders - all of them rare - will be tested for in five areas of England.



The chief medical officer for England said it would give more children the "chance to live a long, healthy life".

The tests are performed by a midwife and they generally take place within the first week of life. The baby's heel is pricked and drops of blood are collected and analysed in a laboratory.

This method of screening gives families access to specialist treatment and support from an early stage if there is a problem.

At the moment five conditions are tested for: sickle cell anaemia, which affects 350 babies a year; cystic fibrosis, which affects 250 babies a year and phenylketonuria, congenital hypothyroidism and medium chain acyl-CoA dehydrogenase deficiency (MCADD).

The pilot scheme in Sheffield, Leeds, Manchester, Birmingham and London means 430,000 newborns a year will be also screened for:



  • Maple syrup urine disease



  • Homocystinuria



  • Glutaric acidaemia type 1



  • Isovaleric acidaemia



  • Long chain fatty acidaemia



All affect about one in every 100,000 births - or about seven babies - a year.


The chief medical officer for England, Prof Dame Sally Davies, 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."


Dr Anne Mackie, the director of programmes for the UK National Screening Committee, said: "This pilot will gather evidence so we can understand whether offering tests for these conditions to a whole population is of overall benefit.

"The UK is a world leader in screening policy. We look forward to reviewing the findings of this study."

The trial will run for one year, starting in July.



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