New screening test for all babies to be introduced
If not identified at early stage, a quarter of affected children will die
All babies in England are to be screened for an inherited metabolic disease called medium chain acyl CoA dehydrogenase deficiency (MCADD) within two weeks of birth health minister Ivan Lewis has announced.
The check will be carried out as part of the standard "heel-prick" test for babies that screens for other diseases such as sickle cell disorders and congenital hypothyroidism.
MCADD is a rare inherited metabolic disease that reduces the ability to maintain a normal blood sugar during episodes of metabolic stress. It affects between one in 10,000 and one in 20,000 babies born in the UK and screening should identify around 28 cases a year in England.
If the disease is not identified at an early stage, around a quarter of affected children will die from the condition, with one- third of survivors sustaining significant neurological damage.
Once babies are identified and given simple treatment, the risk of acute, life-threatening episodes needing emergency and intensive care and of death is substantially reduced.
Health minister, Ivan Lewis, said: "I am delighted that all newborn babies will be screened for MCADD. Not only will the introduction of this screening programme save lives it will improve the quality of life for those children affected by this condition."
National clinical director for children, Sheila Shribman, said: "This is a very important screening programme and I fully support its implementation. Evidence shows that screening newborn babies for this condition will not only save lives, but it can significantly improve their quality of life. Simple treatment through dietary management will substantially reduce the risk of death and the risk of acute, serious illness."
Ministers asked the UK National Screening Committee (NSC) to set up a pilot study to provide essential evidence in an NHS setting of the clinical and cost effectiveness of screening for this condition and the feasibility of implementation. The final report will be available in 2008 but sufficient evidence and analysis was available for the NSC to make its recommendation that newborn screening of all babies would be clinically and cost-effective in the UK.
There will be a planned roll-out of the screening programme over the next two years.