Experts from Birmingham Women’s and Children’s NHS Foundation Trust have developed a test that allows doctors to spot retinblastoma in babies in the womb.
The test, which is being rolled out by the NHS in England this week, means that babies identified as being at risk of developing the rare form of eye cancer can be monitored and treated sooner – increasing the chance of saving their eyesight and potentially their lives.
Symptoms of retinoblastoma are hard to detect and a diagnosis can normally only be made once the tumour has progressed and the eye can’t be saved. The new non-invasive test can detect changes in the genes in DNA and is likely to identify around 50 infants with retinoblastoma each year, in the latest example of the NHS harnessing the power of genomics to diagnose and treat patients faster and more effectively, stated the Trust.
Non-Invasive Prenatal Diagnosis (NIPD) also means parents can be informed early in pregnancy if their child is at risk. The blood sample test is taken from the mother before birth and tested and analysed for mutations, which can determine with almost 100 per cent accuracy if the baby will develop retinoblastoma. Treatment can then start on the affected eye as soon as the baby is born, with doctors closely monitoring the other eye for any signs. The test can also predict if the disease might develop in their siblings and will be offered to families where there is a confirmed case of retinoblastoma in the family.
Dr Trevor Cole and Dr Amy Gerrish, who are part of the Trusts’ specialist retinoblastoma service, are also developing a non-invasive post-natal cancer test for retinoblastoma patients using eye fluid – which can also identify if a patient is at risk from other cancers later in life. It’s hoped that in the future, this could be eventually done by a simple blood test.
Dr Gerrish said: “The introduction of this technology of cell free DNA analysis will revolutionise the management of all aspects of retinoblastoma from early detection, selection of the best treatments, identification of family members at risk of retinoblastoma and early detection and treatment of associated adult onset cancers. We also believe it will help address the huge discrepancy in retinoblastoma outcome for individuals in high income and low and middle income countries which has been highlighted by the World Health Organisation.”
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