Cheek Swab Test Could Detect Risk of Preterm Birth

Babies born prematurely frequently face long-term health challenges, including intellectual and developmental disabilities. While preeclampsia is responsible for approximately 8%-10% of preterm births, these are typically among the earliest-term births and tend to have more severe health complications. Currently, preeclampsia is diagnosed based on symptoms like elevated blood pressure, which usually manifests during the second trimester. Unfortunately, the condition can sometimes go unnoticed until it escalates into a medical emergency. However, a new study analyzing cheek swabs from pregnant women has identified a potential epigenetic biomarker for preeclampsia. With this biomarker, clinicians could implement management strategies during the first and early second trimester, potentially delaying preterm birth.

While clinical trials are necessary to validate these findings, the research conducted by scientists at Washington State University (Pullman, WA, USA) offers promising possibilities for an early diagnostic test for preeclampsia. The study, published in Environmental Epigenetics, involved the collection of cheek cells via swabs from 49 new mothers after delivery. Among this group, 13 women had preeclampsia and delivered prematurely, while the remaining mothers had preterm births but no preeclampsia. A control group of 13 women had full-term deliveries. The research team analyzed the epigenetic changes in these cells, focusing on molecular factors that influence gene activity but are independent of DNA sequence.

The study revealed that mothers with preeclampsia exhibited 389 distinct epigenetic changes in specific DNA methylation regions. These modifications were not present in the mothers without the condition. Furthermore, the set of modifications showed only a 15% overlap with the epigenetics of mothers who experienced preterm birth but did not have preeclampsia, suggesting that these changes are directly associated with preeclampsia. Previously, the team had identified a potential biomarker for the risk of preterm birth. The researchers now aim to conduct a clinical trial to confirm the findings from both this and the earlier study. Ultimately, they hope to develop a cheek swab test to detect these risks earlier, enabling preventative treatments that could improve maternal and infant health outcomes.

“If we have a biomarker for the susceptibility of preeclampsia, then there are some clinical management practices in the first trimester and early second trimester that could delay a preterm birth,” said corresponding author Michael Skinner, a Washington State University biologist. “Preterm birth, which is now more than 10% of all pregnancies, is causing to a large degree, the later-life health issues of every one of those preterm individuals. This is not only an issue for the individuals involved, but potentially a general health issue, and these types of steps forward could really have a big impact in reducing the disease burden on our population.”