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Blood test could identify babies at risk of cerebral palsy and epilepsy

Jane Weakley
13/08/2020
An early blood test is being developed by researchers at Imperial College London in conjunction with practitioners in India, Italy and the US which could pick up which babies deprived of oxygen at birth have suffered brain injury.

Brain injury caused by hypoxia can develop in the first hours or even over the following months of a babies' life, affecting different regions of the brain, resulting in cerebral palsy, epilepsy, deafness and blindness. This uncertainty can make it hard to determine which babies are most at risk of complications and to decide on interventions to prevent the worst outcomes.

Babies can be deprived of oxygen just before or during delivery because of problems with the umbilical cord or the mother's placenta, infection and pre-eclampsia. In medical negligence cases, there are often mistakes by doctors and midwives in identifying that a baby is in distress because of such complications, causing a delay in delivering them, leading to hypoxia.

Most of our cases involve babies who then suffer cerebral palsy as a result of their brain injury which results in impaired cognitive and physical development. Children with cerebral palsy tend to grow up needing a high level of care, support and therapies to help them develop as best they can.

In the current research, blood samples were taken from a preliminary study of 45 babies at six hours' old who had been deprived of oxygen. They were followed up at 18 months old and researchers were able to go back and identify changes to a series of genes in those who had developed neurodisabilities compared to those who hadn't.

They found 855 genes that had been switched on or off differently between the two groups, which could generate deeper understanding of the causes of neurodisability following oxygen deprivation and how to treat it. Two genes in particular showed the most significant difference.

Babies who display danger signs of being at risk of neurodisabilities following the blood test would then be cooled in hospital for 72 hours in the hope of reversing the damage to prevent it causing permanent injury.

Lead author Dr Paolo Montaldo at the Centre for Perinatal Neuroscience at Imperial said: “We know that early intervention is key to preventing the worst outcomes in babies following oxygen deprivation, but knowing which babies need this help, and how best to help them, remains a challenge."

If such a test became mainstream, hospital doctors and midwives would be able to react quickly to babies at risk and begin vital treatment, rather than sometimes waiting for brain scans to pick up anomalies.

In many of our birth injury cases, babies undergo cooling, with varying results. One case involving a young boy whose delivery by emergency Caesarean was delayed by hospital negligence in June 2012, reacted well to emergency cooling for 72 hours following his birth. The boy had had to be resuscitated and the cooling was a bid to protect his brain.

Although he has spent much of his young life being labelled as disruptive because of ongoing cognitive issues, the cooling at least by and large reversed any potential physical injuries due to hypoxia and, despite his behavioural difficulties, he is able to run around, play games and participate in activities, albeit under supervision.

The authors of the study say the hope is that new therapeutic interventions will be developed on the back of the research and those already available will be improved.

To be able to identify babies at risk through a simple blood test could prevent often severe disabilities from developing and would reduce immense hardship and sorrow at lost opportunities and allow every child to achieve their full potential.

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