Early blood test can diagnose brain damage in babies soon after birth and help prevent major disabilities: Study
An early blood test could detect which babies deprived of oxygen at birth are at risk of serious neuro disabilities like cerebral palsy and epilepsy, according to researchers. The test could diagnose brain damage in babies just hours after birth, they say.
The prototype test developed by researchers looks for certain genes being “switched on and off” that are linked to long-term neurological issues. Further investigations of these genes may provide new targets for treating brain damage before it becomes permanent, they explain.
Following oxygen deprivation at birth, brain injury can develop over hours to months and affect different regions of the brain, resulting in a variety of potential neuro disabilities such as cerebral palsy, epilepsy, deafness, or blindness. This makes it hard to determine which babies are most at risk of complications and to design interventions that can prevent the worst outcomes. “At the moment doctors are unable to predict which babies will develop such problems (like cerebral palsy and epilepsy due to oxygen deprivation-related brain injury). We have developed a blood test that can identify these infants soon after birth so that doctors can promptly give appropriate therapy to reduce the brain injury,” Professor Sudhin Thayyil from the Centre for Perinatal Neuroscience at Imperial College London told MEA WorldWide (MEAWW). “The results from these blood tests will allow us to gain more insight into disease mechanisms that are responsible for brain injury and allow us to develop new therapeutic interventions or improve those which are already available,” says Professor Thayyil.
The team behind the test, led by Imperial College London researchers in collaboration with groups in India, Italy and the US, have published their findings in Scientific Reports. They are now expanding their study to a larger number of babies. “We are now testing the accuracy of this blood test in larger studies in India and the UK and developing a kit for bedside testing. If all goes according to the plan, the test is likely to be available within the next five years,” Thayyil told MEAWW.
Babies can suffer oxygen deprivation at birth for several reasons, including when the mother has too little oxygen in her blood, infection, or complications with the umbilical cord during birth. The babies were part of a trial called hypothermia for encephalopathy in low and middle-income countries (HELIX), which also examines the use of hypothermia (extreme cooling) on babies to prevent brain injuries developing following oxygen deprivation. In higher-income countries, this is known to reduce the chances of babies developing neuro disabilities, but in lower-income settings, cooling may not be feasible. And even with cooling, 30% of babies still have adverse outcomes, so new therapies are still needed, say health experts. “Neonatal encephalopathy (NE) related to perinatal asphyxia is the most common cause of death and neuro-disability in term babies with an incidence of 2 to 3 per 1000 live births in high-income countries, and 10 to 20 per 1000 live births in low and middle-income countries. In high-income countries, therapeutic hypothermia partially improves outcomes, although adverse outcomes still occur in up to 30% of the cooled infants,” write authors.
The research was conducted in Indian hospitals. In this preliminary study of 45 babies that experienced oxygen deprivation at birth, researchers identified changes to a “raft of genes in their blood” that could identify those that go on to develop neuro disabilities. The babies had their blood taken within six hours after birth and were followed up after 18 months old to see which had developed neuro disabilities. The blood was examined with next-generation sequencing to determine any difference in gene expression -- the switching on or off of genes -- between those babies that developed neuro disabilities and those that did not.
The team found 855 genes were expressed differently between the two groups, with two showing the most significant difference. Examining these two genes in particular, and what processes their expression causes within cells, could lead to a deeper understanding of the causes of neuro disabilities prompted by oxygen deprivation, and potentially how to disrupt them, improving outcomes. The researchers will now examine the genes that appear to show the most difference between the groups. “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,” says lead author Dr Paolo Montaldo from the Centre for Perinatal Neuroscience at Imperial.