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Expanded
Newborn Blood
Spot Screening
Newborn Blood Spot
Free online learning (12 minutes) with certificate at
www.newbornbloodspot.screening.nhs.uk/elearning
From early 2015, newborn blood spot screening in England expands to include
four additional conditions. They are:
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maple syrup urine disease (MSUD)
homocystinuria (pyridoxine unresponsive) (HCU)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
Based on the evaluation of a one year
project in England that involved over
400,000 babies, the UK National
Screening Committee has
recommended that every baby in the
UK should be screened for these
additional conditions.
Babies are currently screened for:
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sickle cell disease (SCD)
cystic fibrosis (CF)
congenital hypothyroidism
(CHT)
phenylketonuria (PKU)
medium-chain acyl-CoA
dehydrogenase deficiency
(MCADD)
What is the incidence of these conditions?
The four additional conditions are very rare.
They typically occur in between 1 in 100,000
and 1 in 200,000 births.
What causes these conditions?
Like PKU and MCADD, the four additional
conditions are autosomal recessive inherited
metabolic diseases (IMDs).
Are additional blood spots required?
No – four good quality blood spots are still required. They must
completely fill the four circles. Rejection standards for blood spot cards
at laboratories will become more stringent in 2015.
What happens if the test results are positive?
As with the other conditions, parents will be contacted by telephone by a health
professional and an appointment will be made for an assessment and further
testing. Results of these further tests are usually available within 7 days.
How effective is treatment and what would happen if the
conditions were not detected?
In general, early dietary-based treatment for these conditions is effective. If
untreated, babies with MSUD, IVA and GA1 can become suddenly and seriously
ill, while symptoms of HCU can take up to one or two years to emerge. Serious
effects, including severe mental retardation or death, may result if untreated.
How will parents be notified of negative results?
As happens now, parents will receive their baby’s newborn screening results
either by a “not suspected” letter which is sent to parents in some areas or via
the health visitor.
Yes. Parents can decline testing for all of the IMDs offered as part of the
NHS Newborn Blood Spot Screening Programme.
For further information and free online learning with certificate visit
www.newbornbloodspot.screening.nhs.uk/elearning
NHS Screening Programmes are part of Public Health England
Image courtesy of Public Health Wales
Can parents decline testing for their baby?