All Newborn Babies To Be Tested For Four Life-Threatening Genetic Disorders

06/01/2015 11:51 | Updated 20 May 2015

All newborn babies to be tested for four life-threatening genetic disorders

Newborn babies will be screened for four rare life-threatening genetic disorders from today (January 6).

All babies will be offered screening for the four inherited metabolic diseases (IMDs), which can cause death or lifelong disability, as part of an NHS Public Health England programme.

The NHS already uses a blood test on babies when they are five to eight days old to screen for five conditions including cystic fibrosis and sickle cell disease.

The same test will now be used to check if a baby has homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) or isovaleric acidaemia (IVA).

IMDs are genetic diseases that affect the metabolism.

Babies with these conditions cannot process certain substances in food and without treatment can become suddenly and seriously ill.

They can be treated by a carefully managed diet, but untreated IMDs can lead to severe learning disabilities and developmental problems.

Early detection and treatment is expected to benefit around 30 children in England a year.

Public Health Minister Jane Ellison said: "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."

Dr Anne Mackie, director of programmes for the NHS Screening Programmes, 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."

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