Home News Newborn babies screened for more rare conditions

Newborn babies screened for more rare conditions


Every baby born in England from the 5 January will be offered screening for more rare conditions to prevent premature disability and death.

All newborn babies in England will be offered screening for 4 additional rare genetic disorders from today (5 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.

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 5 to 8 days old. This sample is already used to test for 5 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).

Sixteen-month old Phoenix Thompson from Lincolnshire was diagnosed withGA1 through the pilot programme at Sheffield Children’s Hospital.

Phoenix’s mother, Michelle Thompson, said:

“It is unexplainable how important the screening was for us. It means Phoenix can receive the care and treatment he needs. It doesn’t bear thinking about what would have happened if the condition wasn’t picked up early.”


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