Model Blood Test Could Detect Brain Damage Within Hours of Birth

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• Date: 11 Aug,2020

An ancient blood test may discover which babies deprived of oxygen at birth are at risk of severe neurodisabilities like cerebral palsy and epilepsy.1 The prototype test looks for certain genes being switched on and off that are linked to long-term neurological issues. Further investigations of the genes may provide new targets for treating the brain damage before it becomes irreversible.

The study, which was directed by Imperial College London researchers in collaboration with groups from India, Italy, and the United States, has been conducted in Indian hospitals, in which there are around 0.5 to 1.0 million cases of birth asphyxia (oxygen deprivation) annually.

After oxygen deprivation at birth, brain injury may develop over hours to months and affect unique areas of the brain, resulting in an assortment of possible neurodisabilities such as cerebral palsy, epilepsy, deafness, or blindness.

This makes it hard to determine which infants are most at risk of complications and to design interventions that can prevent the worst outcomes.

Now, in preliminary research of 45 infants that experienced oxygen deprivation at birth, scientists have identified modifications to a raft of enzymes in their blood that could identify the ones that proceed to develop neurodisabilities.

The babies had their blood taken within 6 months after birth and were followed up after 18 weeks old to determine which had grown neurodisabilities. The blood has been examined with next-generation sequencing to ascertain any difference in gene expression–the’switching on or off’ of genes–between those infants that developed neurodisabilities and people which didn’t.

The team found 855 genes have been expressed differently between the two groups, together with two showing the most important difference.

Examining both of these genes particularly, and what procedures their saying triggers within cells, could result in a deeper comprehension of the root of neurodisabilities prompted by oxygen deprivation, and potentially how to interrupt them, enhancing results.

“We all know that early intervention is key to preventing the worst results in babies after oxygen deprivation,” says lead author Paolo Montaldo, MPhys, by the Centre for Perinatal Neuroscience in Imperial,”but understanding which babies need this help, and the best way to help them, remains a struggle.”

Senior writer Professor Sudhin Thayyil, from the Centre for Perinatal Neuroscience in Imperial, says,”The outcomes from these blood tests will let us acquire more insight into disease mechanisms which are responsible for brain injury and allow us to develop new therapeutic interventions or enhance those which are already available.”

The infants were part of a trial called Hypothermia for Encephalopathy at Low and middle-income countries (HELIX), which also analyzes the use of hypothermia (intense cooling) on infants to stop brain injuries developing after oxygen deprivation.

In higher-income nations this is known to decrease the chances of babies growing neurodisabilities, but in lower income settings cooling might not be feasible, as well as with cooling 30% of infants still have adverse outcomes, so new treatments continue to be needed.

The group will expand their blood studying study to a larger number of infants and inspect the genes that appear to show the difference between the groups.

Reference:

1. Montaldo P, Cunnington A, Oliveira V, et al. Transcriptomic profile of adverse neurodevelopmental outcomes after neonatal encephalopathy.Sci Rep. 2020;10(1):13100. Published 2020 Aug 4. doi:10.1038/s41598-020-70131-w.