Test to detect rare eye cancer in unborn babies rolled out across NHS

A genetic test to detect a rare form of eye cancer in babies in the womb is being rolled out across the NHS for families at risk.

The test detects babies with retinoblastoma and is likely to identify around 50 cases each year in England.

Retinoblastoma is a rare type of eye cancer that can affect young children, usually under the age of five.

If detected early, the disease can often be successfully treated and more than nine out of 10 children who have it are cured.

However, if the cancer is not detected, it can lead to the loss of one or both eyes, or even death.

One of the signs of retinoblastoma is an unusual white reflection in the pupil of the eye – this may look like a cat’s eye which reflects light and may be visible in photographs.

The new non-invasive NHS test, developed at Birmingham Women’s and Children’s NHS Foundation Trust, can detect genetic changes that cause retinoblastoma.

A blood sample is taken from the mother before she delivers for the test (PA)

(PA Archive)

It will be offered to pregnant women with a known family history of the disease, often mentioned during pregnancy appointments,

For the test, a blood sample is taken from the mother before birth and tested and analyzed for mutations, which can determine with almost 100% accuracy whether the baby will develop retinoblastoma.

The test looks for a mutation in the RB1 gene. About nine out of ten children born with an RB1 mutation develop retinoblastoma.

Detecting the cancer so early means treatment can begin 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 whether the disease might develop in siblings.

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 next few years.

“Cancer is such a terrible disease and a baby 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 cutting-edge treatments like this to help save lives and keep families together.”



Since the tumors were quite severe when he was born, the fact that he could be treated immediately definitely affected his outcome.

Siani Bainbridge, mother of a newborn with retinoblastoma

Siani Bainbridge, 22, from County Durham, had retinoblastoma as a child and feared her toddler son Oscar might also be a carrier of the faulty gene.

She participated in the test trial and discovered that Oscar had retinoblastoma.

She said: “As the tumors were quite severe when he was born, the fact that he could be treated immediately definitely affected his outcome. It was good to know that the day he was diagnosed, it was ready, it was gone.

Just a week after his birth, Oscar began cancer treatment, which involved chemotherapy and then laser therapy.

While doctors could not save sight in one eye, he did not have his eyeball removed and retained sight in the other eye.

The test is one of more than 15 new tests and amendments added to the National Genomic Test Directory, which defines genomic tests for diseases available through the NHS Genomic Medicine Service.

The directory covers over 3,000 rare diseases and over 200 types of cancer.

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