Trusts across the country currently screen every newborn for five conditions, including cystic fibrosis and sickle cell disorders.
Daybreak's Dr Hilary Jones says that at least 16 children are expected to be diagnosed and treated early enough to help them live normal lives.
Thousands of babies in six areas across the country are to be screened for five rare diseases which - undetected - cause severe disability. Daybreak's Katy Fawcett reports.
When a baby is about five days old, a midwife will collect a sample of blood by pricking the baby’s heel.
The card is sent off for analysis and parents receive the results of the blood spot test within a couple of months.
- Sickle cell disease: an inherited blood disorder. Treating babies will help prevent serious illness.
- Cystic fibrosis: a life-limiting inherited disorder that affects the internal organs, especially the lungs and digestive system.
- Phenylketonuria (PKU): a very rare condition that can cause mental disability (but is treatable once diagnosed).
- Congenital hypothyroidism: another rare condition that can lead to impaired growth and mental development. Treated babies can develop normally.
- Medium-chain acyl Co-A dehydrogenase deficiency (MCADD): a rare, but potentially life-threatening inherited disorder, where fat cannot be broken down by the body as well as usual.*
*Babies with MCADD develop normally, but recognising the condition early enables parents to make sure they eat regularly and avoid serious illness.
When a baby is born, he or she is entitled to a range of routine health checks and tests in the first six weeks. These include:
- A physical examination.
- A hearing test.
- A blood test (taken from the baby's heel).
- The five rare diseases being tested are difficult to detect without screening and if unrecognised can eventually lead to children being severely handicapped.
- They occur in fewer than one in 100,000 children but patients affected can benefit enormously from the early detection and treatment offered by screening.
- Trusts across the country currently screen every newborn for five conditions, including cystic fibrosis and sickle cell disorders.
- The new tests will be for maple syrup urine disease, homocystinuria, glutaric aciduria type 1, isovaleric acidaemia and long chain hydroxy acyl CoA dehydrogenase deficiency.
Sheffield, working in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care, will co-ordinate the actions of six centres across the country and in addition to Sheffield Childrens NHS Foundation Trust.
Babies will also be screened at Leeds, Great Ormond Street, Manchester Childrens Hospital, Birmingham Childrens Hospital and Guy's and St Thomas'.