Newborn babies to be tested for rare diseases

The number of tests that newborn babies will undergo after birth is set to increase. All children are screened for a number of common genetic conditions when they are born but this will be extended to four more rarer disorders.

Newborns will be tested for maple syrup urine disease, homocystinuria, glutaric acidaemia type and isovaleric acidaemiam with a simple heel-prick blood test, reports the BBC. The move comes after a year-long study, which found 20 cases of the diseases in the 700,000 babies tested.

Experts have suggested that the screening will actually save the NHS funds in the long term as they will be able to pick up on these conditions earlier, before children get sick and need potentially expensive treatment or care. It will also make an "enormous difference" to the children concerned and their families.

Newborns are already tested for phenylketonuria (PKU), congenital hypothyroidism (CHT), sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD), before they are eight days old.

The new conditions are all inherited conditions,which involve the person being unable to break down the amino acids of proteins. They all have a ranging set of conditions that can start with poor feeding and result in a coma or brain damage if untreated.

However, early detection and treatment can mean diagnosed babies can develop normally.

Dr Anne Mackie, director of programmes for the UK National Screening Committee, which is supported by Public Health England, told the BBC: "Since the start of the pilot in July 2012 more than 700,000 children in England have been tested for these disorders and 47 possible cases identified with 20 confirmed."

Dr Mackie added that is is expected a similar number of children will now be helped each year, thanks to the extension of the screening.

It is unclear whether or not other trusts in Scotland, Wales and Northern Ireland will follow England's move.