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New baby screening to improve early detection of disorders

Every newborn baby should be screened for four new genetic disorders, the UK National Screening Committee (UK NSC) has recommended. 

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 Aciduria (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 their lives, UK NSC hopes. 

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. 

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.” 

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. 

“As a result of this study 20 children with serious but treatable disorders were discovered. We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life.” 

Royal College of Midwives' director for midwifery Louise Silverton said: “We welcome these new recommendations and expansion of the current screening services. The RCM monitored the pilot study, which showed that children with serious but rare conditions can be discovered and treated.   This test can make a huge difference for babies, mothers and families.”