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EUPSA - Circular RNA profiles isolated from amniotic fluidscan distinguish between CDH survivors and non-survivers - Richard Wagner
With Dr. Richard Wagner · hosted by Dr. Udo Rohle
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What the experts said
Prenatal diagnosis and prognostication of CDH cases relies currently only on imaging modalities, with sensitivity for CDH cases around 70%.
Circular RNAs are an RNA species with a circular shape that is highly stable in biofluids and has potential as biomarkers in several human disease contexts.
Circular RNA profiles are significantly altered between CDH and control fetal lungs at two different developmental time points.
The microarray profiling detected approximately 12,000 circular RNAs in fetal lung tissue samples.
An algorithm could successfully cluster CDH lungs and control lungs into two separate groups based on circular RNA profiles at both developmental time points investigated.
Amniotic fluid samples were obtained from CDH cases undergoing fetal tracheal occlusion.
At the time point of amniotic fluid sampling, observed over expected lung to head ratio was similar between survivors and non-survivors.
Gestational age, liver herniation, and birth weight did not differ between CDH survivors and non-survivors at the time of amniotic fluid sampling.
Circular RNA profiles isolated from amniotic fluid samples can distinguish between CDH survivors and non-survivors, indicating prognostic value superior to current imaging modalities.
The research goal is to validate these biomarkers in amniotic fluids in a larger and independent clinical cohort and define 2 to 3 markers that can predict outcomes in CDH cases.
The team plans to test whether circular RNA markers can be isolated from maternal blood samples instead of amniotic fluid.
The COVID pandemic impacted the study by limiting patient recruitment and CDH case enrollment.
The initial study was a screening experiment that profiled all detectable circular RNAs in samples.
The team received funding from the Canadian Institutes of Health Research for a multi-center study to increase sample size and validate findings.
The study is not currently powered to stratify cases of syndromic CDH versus non-syndromic CDH or different severity levels.
Based on prior work with circular RNAs in CDH lungs, the researchers believe they have a disease-specific marker.