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December 8, 2024 – A groundbreaking study has identified a potential epigenetic biomarker for preeclampsia, a potentially life-threatening pregnancy complication that often leads to preterm births. The research, published in Environmental Epigenetics, suggests that a simple test, such as a cheek swab, could soon be used to identify preeclampsia earlier in pregnancy, potentially saving lives and preventing complications.
Currently, preeclampsia is typically diagnosed during the second trimester through symptoms such as abnormally high blood pressure. However, by the time these signs appear, the condition can already be severe, sometimes escalating into a medical emergency. This delay in diagnosis can lead to premature birth, which has long-term health implications for babies.
Dr. Michael Skinner, a biologist at Washington State University and the study’s corresponding author, believes this new epigenetic marker could revolutionize early detection of the condition. “If we have a biomarker for the susceptibility of preeclampsia, then there are clinical management practices in the first and early second trimester that could delay a preterm birth,” Skinner said.
The study, led by Skinner in collaboration with Dr. Paul Winchester, director of the neonatal intensive care unit at St. Franciscan Hospital in Indianapolis, analyzed cheek cell samples collected from 49 new mothers after delivery. Of the 49 participants, 13 had preeclampsia and experienced preterm birth, while the remaining women either had preterm births without preeclampsia or had full-term deliveries.
The researchers focused on the epigenetics of the cells—molecular factors and processes that influence gene behavior without altering the DNA sequence itself. They discovered 389 unique epigenetic modifications in the mothers with preeclampsia, specifically in DNA methylation regions. These modifications were not found in the control group and showed only a 15% overlap with the epigenetic changes in women who had preterm births but not preeclampsia, indicating that these markers are unique to the condition.
Preterm birth, which occurs in more than 10% of pregnancies, is a significant cause of health problems later in life for the child, including intellectual and developmental disabilities. Although preeclampsia accounts for only 8-10% of preterm births, these infants often face the most severe health challenges.
Building on previous research that identified a potential biomarker for preterm birth risk, Skinner’s team hopes to initiate a clinical trial to validate their findings and eventually develop a simple test for early detection of preeclampsia. Such a test could allow for earlier interventions, potentially preventing complications and reducing the burden of preterm birth on both individuals and the broader healthcare system.
“This is not only an issue for the individuals involved, but potentially a general health issue. These steps forward could have a big impact on reducing the disease burden on our population,” Skinner said.
The study was supported by the Libra Foundation and the John Templeton Foundation. Additional co-authors include Eric Nilsson, Daniel Beck of Washington State University, and Cathy Proctor of St. Franciscan Hospital.
For more information, the full study can be found in Environmental Epigenetics: Nilsson, E. E., et al. (2024). Epigenetic biomarker for preeclampsia-associated preterm birth and potential preventative medicine. DOI: 10.1093/eep/dvae022.
