New Genetic Tool Analyzes Umbilical Cord Blood to Predict Future Disease

There is a growing need to identify this risk from birth to enable preventative measures. Now, the umbilical cord may serve as a tool for doctors to predict which children are more likely to face long-term health problems, such as diabetes, stroke, and liver disease. DNA changes found in cord blood could provide early insights into which infants are at higher risk, paving the way for earlier and potentially life-saving interventions, according to research presented at Digestive Disease Week (DDW) 2025.

Researchers at Duke University Health System (Durham, NC, USA) utilized a novel genetic tool to analyze umbilical cord blood from 38 children who were part of the Newborn Epigenetics Study, a long-term birth cohort study. They focused on identifying changes in chemical tags—known as methyl groups—on the infants’ DNA that regulate gene activity. When these changes occur in critical areas of DNA, called imprint control regions, their effects can persist from fetal development into later life. The research team then compared the DNA changes with health data collected when the children reached ages 7 to 12. This data included body mass index, liver fat levels, alanine transaminase (ALT) — a marker of liver inflammation or damage, triglyceride levels, blood pressure, and waist-to-hip ratio.

The team identified several DNA regions where changes were linked to metabolic dysfunction later in childhood. For instance, alterations in the TNS3 gene were associated with liver fat, ALT levels, and waist-to-hip ratio, while changes in genes such as GNAS and CSMD1 were linked to blood pressure, waist-to-hip ratio, and ALT. Although the sample size was small, the researchers believe the findings are promising and warrant further exploration. A larger follow-up study is already underway. While these findings do not establish a direct cause-and-effect relationship between the genetic changes and disease, they highlight potential biological pathways that warrant further investigation.

“These epigenetic signals are laid down during embryonic development, potentially influenced by environmental factors such as nutrition or maternal health during pregnancy,” said co-author Cynthia Moylan, MD, associate professor of medicine, division of gastroenterology, at Duke University Health System. “If validated in larger studies, this could open the door to new screening tools and early interventions for at-risk children.”