A rapid early blood test could detect which babies deprived of oxygen at birth are at risk of serious neurodisabilities like cerebral palsy and epilepsy, UK-led research has found.
The study results, published in Science Reports, could lead to a deeper understanding of the causes of neurodisabilities prompted by oxygen deprivation, and potentially how to disrupt them, thus improving outcomes.
Researchers examined if a whole blood transcriptomic signature measured soon after birth predicts adverse neurodevelopmental outcome 18 months after neonatal encephalopathy.
They performed next generation sequencing on whole blood RNA obtained within six hours of birth from the first 47 encephalopathic babies recruited to the Hypothermia for Encephalopathy in Low and middle-income countries trial. Two infants with blood culture-positive sepsis were excluded, and the data from remaining 45 were analysed.
A total of 855 genes were significantly differentially expressed between the good and adverse outcome groups, of which two genes, RGS1 and& SMC4, were the most significant.
Biological pathway analysis adjusted for gender, trial randomisation allocation (cooling therapy vs usual care) and estimated blood leukocyte proportions revealed over-representation of genes from pathways related to melatonin and polo-like kinase in babies with adverse outcome.
These preliminary data suggest that transcriptomic profiling may be a promising tool for rapid risk stratification in neonatal encephalopathy. It may provide insights into biological mechanisms and identify novel therapeutic targets for neuroprotection.
The research team will next expand their blood testing study to a larger number of babies and examine the genes that appear to show the most difference between the groups.
Lead author Dr Paolo Montaldo 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."
Montaldo P, Cunnington A, Oliveira V, et al. Transcriptomic profile of adverse neurodevelopmental outcomes after neonatal encephalopathy. Sci Rep. 2020;10:130100. doi: 10.1038/s41598-020-70131-w. View abstract
This clinical summary first appeared on Univadis, part of the Medscape Professional Network.
