West Midlands babies to be tested for rare diseases

Birmingham Children's Hospital
Birmingham Children's Hospital Photo: ITV Central News

Birmingham Children's Hospital is taking part in a pilot study which will see thousands of babies across the West Midlands tested for five rare conditions.

Birmingham was chosen to take part in the year-long pilot because of its world-leading research and care for children with rare diseases, many of which occur in fewer than one in 100,000 children.

These types of diseases are difficult to detect without screening and if unrecognised can lead to children being severely handicapped.

Currently, five conditions are tested for across the UK as part of the Department of Health's national newborn screening programme.

Over the next year, around 430,000 newborns across the country will be tested for five additional rare conditions.

Blood is collected by a midwife, generally within the first week of life. The baby's heel is pricked and drops of blood are collected and analysed in a specialist newborn screening laboratory. No additional blood is required for this pilot study. The screening gives families access to specialist treatment and support from an early stage if there is a problem.

Five other centres are also conducting the pilot - Sheffield Children's Hospital, St James' University Hospital Leeds, Great Ormond Street Hospital, Manchester Children's Hospital and Guy's and St Thomas' Hospital - and around 16 children are expected to be diagnosed and treated early enough to help them live normal lives.

"This study is a big step forward for us. It will enable early detection of these five rare but serious conditions. Babies can then be treated from an early age so that severe complications may be prevented. It will mean that we can help more of our young patients to live longer and healthier lives, and if this study is successful, it will pave the way for us consider screening for other rare conditions in the future."

– Mary Anne Preece, Consultant Biochemist at Birmingham Children's Hospital

Birmingham Children's Hospital will screen around 75,000 children during the project and parents will be asked if they wish to participate before having their child's blood tests included.