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The recommendations result from research by Prof Irene Roberts and Prof Paresh Vyas, published today in the British Journal of Haematology.

© David Gregory & Debbie Marshall (CC BY 4.0)

Research in recent years has revealed that babies with Down Syndrome usually have abnormalities in their blood when they are born. Many of these problems rapidly disappear, but a small number have blood problems that can make them extremely unwell over the first few weeks of life.

The need for routine blood testing

Babies with Down syndrome can suffer from 2 potential conditions. Transient Leukaemia of Down Syndrome affects around 1 in 10 of babies. Of these, 1 in 4 can become seriously ill, and specialised treatment is necessary. In addition to this condition, between 1 in 100 and 1 in 50 children with Down Syndrome can also develop a specialised kind of leukaemia known as Myeloid Leukaemia of Down Syndrome, before their 4th birthday. By comparison, only 1 in 7,000 children without Down Syndrome develop myeloid leukaemia. Early detection and close monitoring of Down syndrome babies is key for a good prognosis. Yet, routine blood testing for leukaemia in these babies only happens in a relatively small number of cases.

New national guidelines

The new British Society for Haematology guidelines published today in the British Journal of Haematology, led by a group including Prof Irene Roberts (Department of Paediatrics) and Prof Paresh Vyas (Radcliffe Department of Medicine) at the MRC Molecular Haematology Unit, recommends that all babies with Down Syndrome should have a blood count and blood film in the first few days of life. This test can be done at the same time as other blood tests, and in most cases, will mean that parents can be reassured. In those cases where the results of these test alert the clinical team of a potential diagnosis, a further genetic test will be conducted, and monitoring will take place to check for any signs of progression into leukaemia.

 

Prof Irene Roberts and Prof Paresh VyasProf Irene Roberts and Prof Paresh Vyas

 

“Until now guidelines for the treatment of children with Down syndrome at risk of developing leukaemia have been vague, implementation has been haphazard and children have been diagnosed late as a result.” Said Prof Roberts “Early intervention greatly increases children’s chances of survival if symptoms do develop, helping to save lives.”.

 “A simple test can ensure that those children at risk of cancer are put under the care of a specialist paediatrician. They are properly monitored and are treated straight away when symptoms develop.” Said Prof Vyas “Importantly, it also provides reassurance to the parents of those children not at risk, removing the fear and worry of leukaemia for many families.”

These new clinical guidelines are the result of years of research and clinical studies, funded by the charities Bloodwise and Children with Cancer UK. Written by expert consultants and clinical scientists currently practising in the UK, British Society of Haematology guidelines provide up-to-date evidence-based guidance on the diagnosis and treatment of haematological diseases.

 

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