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New NHS prenatal test for rare form of eye cancer

The test identifies unborn babies at risk of developing retinoblastoma


NHS doctors will now be able to spot a rare form of eye cancer among babies in the womb, following the roll-out of a new testing procedure across the NHS.

It is the latest example of the NHS harnessing the power of genomics to diagnose and treat patients more effectively.

The new NHS test – developed at Birmingham Women’s and Children’s NHS Foundation Trust – identifies those at risk of developing retinoblastoma. Babies can also be monitored and treated sooner, increasing the chance of saving their eyesight and, potentially, their lives.

Symptoms of the condition are often hard to detect and a diagnosis can normally be made only once the tumour has progressed, by which time the eye cannot be saved.

This new non-invasive test can detect changes in the genes and is likely to identify around 50 infants with retinoblastoma every year. Non-invasive prenatal diagnosis also means parents can be informed early in pregnancy if their child is at risk.

A blood sample is taken from the mother before birth and analysed for mutations, which can determine with almost 100% accuracy if the baby will develop retinoblastoma.

Vital treatment can then start on the affected eye as soon as the baby is born, while doctors can also closely monitor the other eye. In addition, the test can predict if the disease might develop in siblings and therefore will be offered to those who have a confirmed case of retinoblastoma in the family.

NHS chief executive, Amanda Pritchard, said: “The introduction of this pioneering new test is fantastic news for babies and their parents and has the potential to save hundreds of lives over the coming years.

“Cancer is such a terrible illness and a baby being born with it can have a huge impact on parents and families during what should be an incredibly happy time, but backed by world-class innovation and services like the NHS Genomic Medicine Service, through the Long Term Plan the NHS is developing and delivering more cutting-edge treatments.”

Birmingham Women’s and Children’s Hospitals is also developing a non-invasive post-natal cancer test for retinoblastoma patients using eye fluid. This process can also identify if a patient is at risk from other cancers later in life.

Article by
John Pinching

3rd May 2022

From: Healthcare



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