Four additional screening tests will be offered to newborn babies in Wales from early 2015.
From early next year, “heel prick” blood samples taken from newborn babies will be tested for four additional metabolic disorders; glutaric aciduria type 1, homocystinuria, isovaleric acidaemia and maple syrup urine disease.
These rare disorders affect around one or two babies born in Wales each year. The tests will be added to the current conditions screened for by Newborn Bloodspot Screening Wales, run by Public Health Wales.
Conditions currently screened for in Wales are congenital hypothyroidism, cystic fibrosis, medium chain acyl-CoA dehydrogenase deficiency (MCADD), phenylketonuria and sickle cell disorders.
Newborn bloodspot screening involves taking a small sample of blood from the baby’s heel at day five to eight of life. The blood sample is screened for rare but serious diseases, which respond to early intervention to improve outcomes for the child. The screening test is part of routine postnatal care.
Dr Rosemary Fox, director of the screening division of Public Health Wales, said: "The additional tests will be introduced following recommendations made by the UK National Screening Committee and the Wales Screening Committee. Policy is set based on the best available evidence and this was provided by the expanded newborn screening pilot project in England.
Health Minister Mark Drakeford said: "Every newborn child deserves the very best start in life. I’m pleased to announce that these additional tests will be introduced from early 2015."
|Dr Rosemary Fox: "There is evidence that offering screening for these four additional conditions will ensure early detection and treatment for affected babies, improving their long-term outcomes."|
"There is evidence that offering screening for these four additional conditions will ensure early detection and treatment for affected babies, improving their long-term outcomes."
Babies who have a positive screening test for one of these rare conditions will require specialist support. Robust referral pathways and patient information will be developed in a similar way to the current referral pathways for screen positive babies.
The introduction of the new tests has been possible as a result of close working between Public Health Wales and Cardiff and Vale University Health Board.
More information about Newborn Bloodspot Screening Wales is available atwww.newbornbloodspotscreening.wales.nhs.uk
More information about the disorders is available athttp://www.expandedscreening.org/site/home/start.asp