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New genetic tests for newborns

WebMD UK Health News
Medically Reviewed by Dr Rob Hicks
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5th January 2015 – Already, in the first days of life, babies have a heel-prick blood test to screen for rare genetic disorders. From today in England, newborns will be screened for four additional rare conditions.

In a press release public health minister Jane Ellison says: "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. Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected."

About half of England is already carrying out the tests following successful pilot programmes, the other half will begin screening this month. It's estimated the extra screening has the potential to benefit around 30 children in England each year. Wales will begin screening early this year but the remaining UK nations haven't yet decided whether to introduce screening for the four extra conditions.

Heel-prick test

The existing heel-prick blood test is carried out when a newborn baby is around 5 to 8 days old.

This sample is already used to test for five conditions:

From today in England, using the same heel-prick blood test, babies will be screened for four extra rare conditions, all of which prevent the breakdown of amino acids contained in protein. When the levels of these amino acids get very high, they can be very harmful.

The four additional conditions being screened for are:

  • Homocystinuria (HCU)
  • Maple syrup urine disease (MSUD)
  • Glutaric aciduria type 1 (GA1)
  • Isovaleric acidaemia (IVA)

Babies with these disorders may show symptoms within days of birth or, without testing, may not be diagnosed for months leading in some cases to irreversible damage.

Early detection

Dr Anne Mackie, director of programmes for the NHS Screening Programmes, part of Public Health England, says in a prepared statement: "The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions."

Sixteen-month old Phoenix Thompson from Lincolnshire was diagnosed with GA1 through the pilot programme at Sheffield Children’s Hospital. His mother, Michelle Thompson, says in a press statement: "It is unexplainable how important the screening was for us. It means Phoenix can receive the care and treatment he needs. It doesn’t bear thinking about what would have happened if the condition wasn’t picked up early."

Reviewed on January 05, 2015

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