A new test for babies at risk of developing retinoblastoma, a rare form of eye cancer, is being rolled out by NHS England this week.

The non-invasive test was developed at Birmingham Women’s and Children’s NHS Foundation Trust and it is hoped it will detect up to 50 infants with retinoblastoma each year.

Cancer Research UK says that a diagnosis of retinoblastoma most commonly affects children under the age of five years. Around 36 children are diagnosed with retinoblastoma in England every year.

Although it can be very distressing and frightening for the child and their parents it has the highest survival of any children’s cancer in England. 

Test for retinoblastoma can be done early in pregnancy

The new non-invasive prenatal diagnosis (NIPD) test 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.

Dr Amy Gerrish, from Birmingham Women’s and Children’s Trust, said: “The introduction of this technology of cell free DNA analysis will revolutionise the management of all aspects of retinoblastoma from early detection, selection of the best treatments, identification of family members at risk of retinoblastoma and early detection and treatment of associated adult onset cancers.

“We also believe it will help address the huge discrepancy in retinoblastoma outcome for individuals in high income and low and middle income countries which has been highlighted by the World Health Organisation (WHO)”.

The NIPD is one of more than 15 new tests and amendments being added to the National Genomic Test Directory (NGTD), which outlines the genomic tests available via the NHS in England through the NHS Genomic Medicine Service (GMS).

Patrick Tonks, Chief Executive of The Childhood Eye Cancer Trust (CHECT), added: “Any developments such as this new diagnostic test which has the potential to allow treatment to be started much sooner and therefore the real potential to improve patient outcomes is very exciting news for babies and for the families of anyone affected by retinoblastoma. We watch with interest as this new development is rolled out across the country”.