Researchers at the University of Hong Kong have demonstrated that fetal gene activity can be inferred from RNA collected in amniotic fluid. The findings were published in npj Genomic Medicine, highlighting a new avenue for understanding fetal biology and prenatal health through transcriptomic analysis.
While the probability of any single inherited disorder is typically modest, the cumulative effect of these conditions can be substantial for population health. In Hong Kong alone, a few rare hereditary diseases affect a portion of the population, underscoring the ongoing need for improved prenatal screening strategies that can detect diverse genetic risks early. This study contributes to that effort by expanding the toolkit available to clinicians who assess hereditary risk in pregnancy, with potential implications for Canada and the United States as researchers refine scalable testing options for diverse populations.
Contemporary prenatal diagnostics rely heavily on DNA analysis, yet a large share of diseases—estimates range from 60 to 70 percent—remain undiagnosed using traditional methods. In recent years, RNA sequencing has shown promise by increasing diagnostic yield by roughly 10 to 36 percent, though prior work did not specifically address prenatal contexts. This investigation proposes that integrating RNA-based insights could close part of that gap by capturing not only genetic variants but also the functional state of genes during key stages of fetal development.
In the study, amniotic fluid cells were obtained from more than 50 pregnant individuals between 16 and 24 weeks of gestation. The material underwent RNA sequencing to map gene expression patterns alongside mutation profiles. The authors argue that this approach may offer a practical and potentially more accurate alternative to DNA-only testing, by reflecting gene activity that underpins disease processes in vivo. If validated in broader, real-world settings, RNA-centric prenatal screening could complement existing methods, guiding decision-making for families and clinicians in North America as well as Asia. Acknowledgments are provided to the supporting teams and institutions that contributed to this exploratory work (attribution: npj Genomic Medicine).