Novel RNA Analysis Method May Transform Preterm Birth Predictions

Research has shown that analyzing cell-free RNA (cfRNA) in blood samples can predict preterm births (PTB) well before the expected delivery date. This groundbreaking finding, presented at the annual conference of the European Society of Human Genetics, could lead to improved strategies for preventing preterm births, a significant global health issue.

Every year, approximately 13.4 million infants are born prematurely worldwide, representing about one in ten live births. Tragically, nearly one million of these preterm infants do not survive past their first year, making preterm birth the leading cause of mortality in children under five. The challenge in predicting PTB lies in the condition's complexity, with various underlying mechanisms still not fully understood and a lack of reliable predictive tools.

In a study led by researchers from BGI Research and the Obstetrics and Gynecology Hospital of Fudan University, blood plasma samples from 851 pregnancies were analyzed. The study included 299 cases of preterm birth and 552 control cases, focusing on samples taken around 16 weeks of gestation. The researchers identified significant differences in cfRNA markers between those who experienced PTB and those who delivered at term.

Notably, the study encompassed both preterm births with intact membranes and those with premature rupture, with fewer than 3% of participants having a history of preterm birth. The ability to detect predictive signals over four months before delivery indicates that biological changes signaling the risk of PTB occur much earlier than current clinical practices can recognize. This finding opens up the possibility of implementing preventive measures much sooner than previously thought.

Preterm infants face numerous health risks due to their underdeveloped organs, often leading to complications such as respiratory distress, jaundice, feeding difficulties, and infections. Long-term consequences for these children can include cerebral palsy, epilepsy, and vision problems, imposing significant emotional and financial strains on families.

The researchers highlighted that their method could be conducted alongside routine Non-Invasive Prenatal Testing (NIPT), making it feasible for dual testing during standard blood draws. Current costs for cfRNA sequencing are comparable to those of NIPT, and future advancements in technology may reduce these expenses further. This could lead to enhanced monitoring for high-risk patients and broader screening options for the general population.

Unlike traditional DNA analysis, cfRNA can offer real-time, tissue-specific insights into biological processes. Initial findings have revealed distinct patterns in preterm cases, indicating specific biological responses associated with infection and inflammation in cases of membrane rupture, while metabolic dysregulation was observed in cases with intact membranes.

The potential of this liquid biopsy approach to reshape the understanding and management of pregnancy complications is significant. However, further research is necessary to standardize protocols for handling RNA samples, given their instability in comparison to DNA. Additionally, developing prediction algorithms across diverse populations will be essential to target specific interventions effectively.

As researchers continue to pursue these aims and collaborate with other institutions, the hope remains that these findings will soon be integrated into clinical practice. The chair of the conference emphasized that advancements in sequencing technologies are paving the way for new diagnostic possibilities, marking a shift in how risks are evaluated in pregnancy.