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Newborn blood spot screening expanded to more conditions

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All newborn babies in England will be offered screening for four additional rare genetic disorders from today, public health officials have announced.

The NHS Newborn Blood Spot Screening Programme has been expanded to screen for the inherited metabolic diseases – homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).

The test will be performed using the existing blood test that babies currently have at five to eight days old, said Public Health England.

“The early identification of these conditions can prevent death and significantly improve the quality of life”

Anne Mackie

The sample already covers five inherited metabolic diseases conditions – phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease (SCD), cystic fibrosis (CF) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Wales will also begin screening for these conditions in early 2015. The other UK countries are yet to decide whether they will introduce screening for the new conditions.

The UK National Screening Committee recommended extending the screening programme following successful results from pilot programme coordinated by Sheffield Children’s NHS Foundation Trust and the South Yorkshire Collaboration for Leadership in Applied Health Research and Care.

Pilot areas included Sheffield, Manchester, Leeds, Birmingham and two in London, at Guy’s and St Thomas’ NHS Foundation Trust and Great Ormond Street Hospital Foundation Trust.

Dr Anne Mackie, director of programmes for NHS Screening Programmes, which is part of PHE, said: “Screening for these rare disorders has the potential to benefit around 30 children in England each year.

“The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions,” she said.

Public health minister Jane Ellison added: “This is really welcome news. Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders.”

New training resources have been published for nurses involved in the programme – a resource on the expanded screening programme itself and one for those involved in taking blood spot samples – as well an information leaflet.   

The NHS Newborn Blood Spot Screening Programme now covers the following seven conditions:

  • Homocystinuria (HCU)
  • Maple syrup urine disease (MSUD)
  • Glutaric aciduria type 1 (GA1)
  • Isovaleric acidaemia (IVA)
  • Phenylketonuria (PKU)
  • Congenital hypothyroidism (CHT)
  • Sickle cell disease (SCD)
  • Cystic fibrosis (CF)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
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Readers' comments (1)

  • I am very glad that at last these rare disorders are being added to the existing screening programme. There are probably more that could be added but unless it can be shown to be cost effective, I doubt they will.

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