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Babies to get new test for eye cancer in the womb to save their sight

A life-saving test that allows doctors to spot a rare form of eye cancer in babies in the womb is being rolled out by the NHS in England this week.

Now, thanks to a new NHS test developed at Birmingham Women’s and Children’s NHS Foundation Trust, babies identified as being at risk of developing retinoblastoma 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.

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% 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.

On top of the cutting-edge new test, Birmingham Women’s and Children’s Hospitals is 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.

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