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Update on expanded newborn screening
  1. Hannah Jacob
  1. Correspondence to Dr Hannah Jacob, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK; hcjacob{at}

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In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

What should I be doing?

  • Ensure high-quality blood samples …

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  • Funding HJ is an Academic Clinical Fellow funded by the National Institute for Health Research.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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