NHS introduces new test to detect retinoblastoma early

A blood sample taken from the mother before birth can determine with close to 100% accuracy whether the baby will develop eye cancer


NHS England has rolled out a new test that is capable of identifying babies at risk of developing retinoblastoma while they are still in the womb.

The Non-Invasive Prenatal Diagnosis procedure was developed at Birmingham Women’s and Children’s NHS Foundation Trust.

A blood sample is taken from the mother before birth, with genetic analysis determining whether the baby is at risk of retinoblastoma. The test can also predict whether the disease is likely to develop in the baby’s siblings.

Treatment can start on the affected eye as soon as the baby is born. It is estimated that the new test could identify 50 infants with childhood eye cancer each year.

The Birmingham Women’s and Children’s NHS Foundation Trust is also developing a post-natal test for retinoblastoma patients using eye fluid that could identify whether the baby is at risk from other cancers later in life.

NHS chief executive, Amanda Pritchard, highlighted: “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.”

County Durham resident, Siani Bainbridge, 22, had retinoblastoma as a child and took part in the testing programme before the birth of her son, Oscar.

After Oscar was diagnosed with eye cancer, he received treatment just a week after he was born.

“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,” Bainbridge said.