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May 25, 2025 — A groundbreaking study presented at the European Society of Human Genetics annual conference has revealed that cell-free RNA (cfRNA) signatures in blood can predict the risk of preterm birth (PTB) more than four months before delivery. This discovery could pave the way for earlier and more effective prevention strategies for one of the leading causes of infant mortality worldwide.
Early Detection Through cfRNA
Researchers led by Dr. Wen-Jing Wang of BGI Research in Shenzhen and Professor Chemming Xu of the Obstetrics and Gynecology Hospital of Fudan University, Shanghai, analyzed blood plasma samples from 851 pregnant women. The team identified cfRNA markers associated with spontaneous PTB at around 16 weeks of gestation, well before current clinical signs appear.
“Being able to detect these predictive signals over four months suggests early biological priming for PTB, far earlier than current clinical recognition,” Dr. Wang explained. “This extended window could revolutionize prevention strategies.”
The Global Impact of Preterm Birth
Each year, approximately 13.4 million babies are born prematurely—before 37 weeks of gestation—accounting for about one in every ten live births. Nearly one million of these infants die annually, making PTB the leading cause of death in children under five. Survivors often face long-term health challenges such as cerebral palsy, epilepsy, blindness, and other complications, placing emotional and financial burdens on families.
How the Test Works
The cfRNA test uses the same blood draw timing as routine Non-Invasive Prenatal Testing (NIPT), allowing for convenient dual screening. While current cfRNA sequencing costs are similar to NIPT, future advancements could make the test even more affordable and accessible.
Unlike DNA or immune cell biomarkers, cfRNA provides dynamic, tissue-specific insights. The study found distinct cfRNA patterns associated with different types of PTB, such as infection and inflammation in cases with ruptured membranes, and metabolic dysregulation in other cases.
Next Steps and Challenges
Before this diagnostic method can be widely adopted, standardized protocols for sample handling must be developed due to RNA’s instability. Additionally, prediction algorithms need validation across diverse populations, and further research is necessary to understand the various subtypes of PTB.
The research team is actively seeking collaborations to accelerate clinical implementation and hopes that this “liquid biopsy” approach will transform the management of pregnancy complications.
Professor Alexandre Reymond, chair of the conference, commented, “Advances in sequencing and analysis technologies are now offering many new diagnostic possibilities. This is a fascinating example of the use of sequencing readouts to evaluate risk, rather than assessing genetic background to assess predisposition.”
Disclaimer:
This article is for informational purposes only and is based on current research findings presented at a scientific conference. The cfRNA test for early prediction of preterm birth is not yet widely available in clinical practice. Pregnant individuals should consult their healthcare providers for personalized medical advice and should not rely solely on this information for health decisions.
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