A prenatal blood test that is able to detect gene changes that cause the most common childhood eye cancer, has been launched by the NHS in England to allow the development of a treatment plan before birth.
Retinoblastoma affects approximately 36 children in the UK every year. It is generally diagnosed due to a sudden squint or the presence of leukocoria, a white pupillary reflex often visible in photographs of the child. In about 40 percent of cases, this type of cancer is caused by a mutation in the RB1 gene, which can be passed on from the child's parents or occur spontaneously during embryo development.
Dr Amy Gerrish, from Birmingham Women's and Children's NHS Foundation Trust, who helped develop the test, said: 'We are incredibly excited that this project could bring a new technique to diagnose our young patients affected by retinoblastoma, which would provide patients with much more information about their condition and enable us to more accurately determine the best treatments'.
The new blood test is able to detect the presence of an RB1 mutation in a fetus by analysing cell-free fetal DNA in the mother's bloodstream and will be available for pregnant women with a family history of retinoblastoma. It also represents one of the latest inclusions to the National Genomic Test Directory, currently covering tests for over 3000 rare diseases and 200 types of cancer through the NHS.
Around 90 percent of the children who have a mutation in the RB1 gene will develop retinoblastoma during their first years of life. Knowing whether a fetus carries the RB1 mutation as early as eight weeks' gestation enables screening and treatment options to be in place as soon as the baby is born. Early-term delivery and subsequent treatment may lead to enhanced vision and reduced invasive therapies. Furthermore, the test is also able to determine whether the disease may develop in their siblings.
Patrick Tonks, chief executive of the Childhood Eye Cancer Trust, London, stated: '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'.
It is expected that this new non-invasive test will identify around 50 infants with retinoblastoma each year.
Siani Bainbridge, from County Durham, who had retinoblastoma herself as a child, and took the new test while pregnant said: 'This took away a lot of stress, knowing that if there was going to be anything wrong then [my son] 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'.
The paper detailing the non-invasive prenatal diagnosis test was published in Journal of Clinical Medicine in November 2020.
Sources and References
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Birmingham Children’s Hospital test to spot rare eye cancer in unborn babies rolled out across NHS
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Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies
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Experts at Birmingham Women’s and Children’s develop new test to spot rare eye cancer in unborn babies
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Babies to get new test for eye cancer in the womb to save their sight
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