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Babies in England to receive eye cancer test in the womb

A new life-saving test which detects eye cancer in babies is being launched across England by the NHS this week. Developed at the Birmingham Women’s and Children’s NHS Foundation Trust, the test will be able to spot the rare cancer retinoblastoma while babies are still in the womb. By spotting the cancer sooner, the babies can be treated earlier, thus saving their eyesight and even their lives.

Retinoblastoma is notoriously difficult to detect and is usually diagnosed once the eye cannot be saved. However, this new test aims to change that and can spot changes in the genes in DNA which indicate retinoblastoma. This is likely to identify 50 new cases of the disease in babies each year.

The test works by taking blood from the mother before birth and analysing it for any mutations which can definitively diagnose retinoblastoma in the baby. Treatment can then begin as soon as the baby is born. The test can also predict whether the disease is likely to develop in their siblings and will be offered to all families who have been affected by retinoblastoma.

The Birmingham Women’s and Children’s NHS Foundation Trust is also developing other innovative tests. These include another test for retinoblastoma, conducted after birth using eye fluid, and can also detect whether they are at risk of other cancers in their lifetime. Researchers hope that this will eventually be done through a simple blood test.

Dr Amy Gerrish, from Birmingham Women’s and Children’s Trust, 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”.


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