Newborn babies to be screened for more gene disorders

The existing test for cystic fibrosis and sickle cell disease will be extended

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Indy Lifestyle Online

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

All babies will be offered screening for the four inherited metabolic diseases (IMDs), which can cause death or lifelong disability, as part of a 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 an infant has homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) or isovaleric acidaemia (IVA). 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.