Newborn babies screened for more rare conditions

Monday 5 January 2015


All newborn babies in England will be screened for four additional rare genetic disorders from today (Monday 5 January 2015).

Public Health England’s NHS Newborn Blood Spot Screening Programme, which was trialled in the maternity unit at St Thomas’ Hospital over the past year, has been expanded to screen for the following rare, but potentially disabling conditions:

  • homocystinuria (HCU)
  • maple syrup urine disease (MSUD)
  • glutaric aciduria type 1 (GA1)
  • isovaleric acidaemia (IVA).

Testing for these conditions will prevent babies affected by the conditions from being severely disabled for the rest of their lives or even dying.

Dr Anne Mackie, Director of Programmes for the NHS Screening Programmes (part of Public Health England), says: "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."

The test will be performed using the same blood test that babies currently have at five to eight days old. This sample is already used to test for five conditions which form the NHS Newborn Blood Spot Screening Programme.

The BBC's Medical Correspondent visited St Thomas’ to speak to new parents about the tests. See his report.

Last updated: January 2015

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