A mum has welcomed news that a life-saving test allowing doctors to spot a rare form of eye cancer in babies in the womb is being rolled out by the NHS.
Now, 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.
Siani Bainbridge, 22, from County Durham, had retinoblastoma herself as a child and feared her baby boy, Oscar, might carry a faulty gene known as RB1 which causes the potentially deadly cancer.
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Oscar, now nearly two, was diagnosed with the same cancer and was left blind in one eye but doctors were able to save the sight in his other eye.
When Siani took part in the new test, medics spotted the previously hard-to-detect disease and put in place a programme of treatment straight after Oscar's birth.
Siani said: "This took away a lot of stress, knowing that if there was going to be anything wrong then he would be helped straight away. Given that the tumours were quite severe when he was born, the fact he could be treated straight away definitely affected his outcome. It was nice to know the day he was diagnosed it was ready, set go."
Just a week after being born, Oscar started his cancer treatment, which involved chemotherapy and then laser therapy.
While doctors could not save the sight in one eye, they did avoid having the little lad’s eyeball removed. And, crucially he kept his perfect sight in the other one – as well as avoiding the disease potentially spreading to the brain.
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. 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 new test, Birmingham Women’s and Children’s Hospitals, where the test was developed, is also working on 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.
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 like this one to help save lives and keep families together."
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