New screening will protect babies from death and disability
Today the UK National Screening Committee (UK NSC) announced its
recommendation to screen every newborn baby in the UK for four new
This means expanding the current NHS Newborn Blood Spot
Screening programme to screen for: Homocystinuria (HCU), Maple
Syrup Urine Disease (MSUD), Glutaric Aciduria type 1 (GA1) and
Isovaleric Acidaemia (IVA).
Testing for these conditions as part of the current programme,
leading to early detection and treatment, will prevent those babies
affected from dying or being severely disabled for the rest of
Dr Anne Mackie, Director of Programmes for the UK NSC, which is
supported by Public Health England, said: "We are delighted to
announce our recommendation to expand the programme.
"We supported a pilot to look into the impacts of screening for
these conditions. Since the start of the pilot in July 2012 more
than 700,000 children in England have been tested for these
disorders and 47 possible cases identified with 20 confirmed.
"We will help similar numbers each year now the extension is
being rolled out."
Andrew Morris from the Manchester Centre for Genomic Medicine
"We are delighted that we will be extending newborn screening at
Central Manchester Foundation Trust to include 4 new genetic
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.
The Manchester Centre for Genomic Medicine has already
participated in a pilot study of screening for these
Babies currently have a heel prick blood test at five to eight
days old to test for five conditions where early detection and
treatment will improve the long-term outcome for the child:
phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell
disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA
dehydrogenase deficiency (MCADD).
The pilot programme was run by Sheffield Children's NHS
Foundation Trust in which over 700,000 babies across the country
were screened for the new diseases in addition to the current five
for which every newborn is currently screened. Following the
results of this, the UK NSC was able to recommend extending the
programme to screen for them.
Professor Jim Bonham, national lead for the pilot project and
director for newborn screening at Sheffield Children's NHS
Foundation Trust, said: "This is fantastic news and everyone
who has been involved in the pilot should be really proud of the
part they have played in this development."