Expansion to newborn screen tests roles out across England & Wales

The good news for parents and babies about to be born in England and Wales is that the new born screening test has been expanded to included four additional rare metabolic conditions. Also known as the the heel prick test, this screening programme has until now looked to identify those at risk of phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Sheffield Children’s NHS Foundation Trust undertook a pilot study during 2012-2013 to test the validity of offering an expanded programme of screening. Following a successful evaluation, from this week in England and Jan 12th in Wales, the blood taken from newborns between 5 and 8 days old will also be tested for maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia. http://www.bbc.co.uk/news/health-30657478

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