New baby screening programme rolled out across country after Sheffield pilot

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Newborn babies will be screened for four rare life-threatening genetic disorders from this week following a successful pilot in Sheffield.

All babies across the country will be offered screening for four inherited metabolic diseases, which can cause death or lifelong disability, as part of a Public Health England programme.

It follows a pilot programme being carried out at Sheffield Children’s Hospital.

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 an infant has homocystinuria, maple syrup urine disease, glutaric aciduria type 1 (GA1) or isovaleric acidaemia (IVA).