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Newborn babies screened for more rare conditions

All newborn babies in England will be offered screening for four additional rare genetic disorders from 5th January 2015.

Public Health England's NHS Newborn Blood Spot Screening Programme has been expanded to screen for the following rare, but potentially disabling conditions: homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).

Testing for these conditions, leading to early detection and treatment, will prevent those babies affected from dying or being severely disabled for the rest of their lives.

Andrew Morris, Consultant in Paediatric Metabolic Medicine at Central Manchester Foundation Trust said:

"We are delighted that we will now offer newborn screening for 4 new genetic disorders. Testing for these conditions will lead to early detection and treatment and will prevent affected babies from dying or being severely disabled for the rest of their lives."

Public Health Minister Jane Ellison said: "This is really welcome news. Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders. Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected."

Dr Anne Mackie, Director of Programmes for the NHS Screening Programmes, part of Public Health England, said: "Screening for these rare disorders has the potential to benefit around 30 children in England each year. The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions."

The test will be performed using the same blood test that babies currently have at five to eight days old. This sample is already used to test for five conditions which form the NHS Newborn Blood Spot Screening Programme: phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).