Will your newborn baby receive more tests?

9 April 2012
Will your newborn baby receive more tests?
Will your newborn baby receive more tests?

A new year-long NHS pilot scheme is being launched in July that means newborn babies will receive additional screening when they’re born. The scheme will test more than half of the babies born in the UK for five rare debilitating disorders.

Around 430,000 babies will be screened for the disorders using a blood sample which is already taken from newborns (so no further injections or upset for the baby!) The chief medical officer for England said it would give dozens of babies 'the chance to live a long, healthy life.'

Every baby born in the UK (that’s around 700,000 new born babies each year) is currently tested for rare inherited genetic disorders including cystic fibrosis and sickle cell anaemia. Only around 1,000 babies a year are diagnosed with a disorder as the result of this screening.


What are the new tests?

The new scheme will test the same blood sample, taken from a small prick on the baby's heel during its first week, for five additional conditions: maple syrup urine disease, homocystinuria and three types of acidaemia.

Maple syrup urine disease is an ailment which prevents the digestion of some proteins, and is found in one in 120,000 births. It can cause the sufferer's urine to smell of maple syrup and, if undiagnosed, may become life-threatening.

Homocystinuria inhibits the body's metabolism of the amino acid methionine. It affects one in 100,000 births and can lead to visual problems, deformities of the chest and spine, low IQ and mental disorders. There is no known cure, although around half of patients respond well to high doses of vitamin B.
Glutaric acidaemia type 1, isovaleric acidaemia and long chain fatty acidaemia are metabolic conditions which each affect one in 100,000 children.

So will your baby be part of the pilot scheme?

Well the pilot scheme will run in Sheffield, Leeds, Manchester, Birmingham and some areas in London from July 2012. It is being funded by the National Institutes of Health Research which is providing £600,000 to researchers based at Sheffield Children's NHS Foundation Trust.

After a year, the results of the pilot scheme will be analysed, and a decision will be made whether or not to roll out the scheme nationwide.

If you'd like to know if your baby will be affected by these planned changes, or know more about the pilot scheme, just ask your midwife.

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