Newborn babies screened for more rare conditions
All newborn babies in England will be offered
screening for four additional rare genetic disorders from 5th
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