Brain Damage at Birth May Be Quickly Diagnosed With Newborn Blood Test: Study

An early blood test may help identify infants who were deprived of oxygen during birth, allowing doctors to more quickly identify children at risk of cerebral palsy or other neurodisabilities, which typically are diagnosed as children fail to hit developmental milestones.

According to findings of published this month in the medical journal Scientific Reports, researchers inicate that a simple blood test done at birth may help determine which genes are expressing that may lead to neurodevelopment problems later.

Researchers from Imperial College London, in collaboration with groups in India, Italy and the U.S., conducted the research in Indian hospitals, where half a million to 1 million cases of birth hypoxia each year. Hypoxia occurs when an infant is deprived of oxygen at birth.

Infants can suffer from hypoxia for different reasons, such as when the mother has too little oxygen in her blood, infection, or through complications with the umbilical cord during birth.

Oxygen deprivation can cause neurodisabilities within hours, months or years of birth, but it can be difficult to determine which infants are most at risk of developing complications. Other things can also lead to neurodevelopment issues, such as head injury during birth, jaundice, and bacterial or viral infections.

Neurodevelopment issues may affect different parts of the brain, leading to neurodisabilities such as cerebral palsy, epilepsy, deafness or blindness, or can cause other impairments including cognitive, emotional or physical impairments.

In the new study, researchers used a prototype test to look for genes being expressed, or switched on and off, that are linked to long term neurological issues.

The study included 45 infants recruited to the Hypothermia for Encephalopathy in Low and middle-income countries (HELIX) trial. This is a trial that uses extreme cooling to combat brain injury from oxygen deprivation; a technique which can help reduce the incidence of neurodisabilities.

The study included babies who had blood drawn within six hours of birth. They were followed for 18 months to see which ones developed neurodisabilities.

Researchers sequenced the blood and examined it for gene expression. Then outcomes between children who developed neurodisabilities and those who did not were compared.

The researchers discovered there were some changes to genes in the blood that may help identify the infants that will go on to develop neurodisabilities.

Overall, 855 genes were “significantly differentially expressed” between the two groups. Two genes were especially significant in identifying negative outcomes.

Researchers hope by examining the genes and what processes lead to their expression it can help lead to a deeper understanding of the causes of disabilities prompted by oxygen deprivation.

They also hope by targeting the genes now, future research may be developed to help find ways to treat the brain damage before it becomes permanent.

“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,” wrote lead author Dr. Paolo Montaldo, from the Centre for Perinatal Neuroscience at Imperial.