Half of British newborns to be tested for five more inherited diseases
Doctors already test newborns for disorders including cystic fibrosis and sickle cell anaemia
09:58 GMT, 9 April 2012
More than half of the babies born in the UK will be screened for five rare debilitating disorders as a result of a year-long NHS pilot scheme running from July.
Around 430,000 babies will be screened for the disorders using a blood sample which is already taken from newborns.
The chief medical officer for England said it would give dozens of babies 'the chance to live a long, healthy life.'
Doctors will test the same blood sample that is currently taken from a small prick on the baby's heel during its first week
Every baby born in the UK, around 700,000 each year, is currently tested for rare inherited genetic disorders including cystic fibrosis and sickle cell anaemia. Around 1,000 babies a year are diagnosed with a disorder as the result of this screening.
The new scheme will test the same blood sample, taken from a small prick on the baby's heel during its first week, for five additional conditions: maple syrup urine disease, homocystinuria and three types of acidaemia.
Maple syrup urine disease is an ailment which prevents the digestion of some proteins, and is found in one in 120,000 births. It can cause the sufferer's urine to smell of maple syrup and, if undiagnosed, may become life-threatening.
Homocystinuria inhibits the body's metabolism of the amino acid methionine. It affects one in 100,000 births and can lead to visual problems, deformities of the chest and spine, low IQ and mental disorders. There is no known cure, although around half of patients respond well to high doses of vitamin B.
Glutaric acidaemia type 1, isovaleric acidaemia and long chain fatty acidaemia are metabolic conditions which each affect one in 100,000 children.
The pilot scheme will run in Sheffield, Leeds, Manchester, Birmingham and some areas in London from July 2012. It is being funded by the National Institutes of Health Research which is providing 600,000 to researchers based at Sheffield Children's NHS Foundation Trust.
The results of the trial will be evaluated after a year by the UK National Screening Committee (NSC).
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.'