EUPSA - Circular RNA profiles isolated from amniotic fluidscan distinguish between CDH survivors and non-survivers - Richard Wagner

Prenatal diagnosis and prognostication of CDH cases relies currently only on imaging modalities, with sensitivity 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.

An algorithm could cluster CDH lungs and control lungs into two separate groups based on circular RNA profiles at both investigated time points.

At the time point of amniotic fluid sampling, observed over expected lung to head ratio was similar between CDH survivors and non-survivors.

Gestational age, liver herniation, and birth weight did not differ between CDH survivor and non-survivor groups 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 team received funding from the Canadian Institutes of Health Research for a multi-center study to validate circular RNA biomarkers in CDH.

The study is not currently powered to stratify syndromic CDH versus non-syndromic CDH cases or different severity levels.

The investigators believe they have a disease-specific marker based on previous work with circular RNAs in CDH lungs.