Maternal Plasma Micro-RNAs in Fetal Congenital Diaphragmatic Hernia: A Potential Non-Invasive Tool for Prenatal Diagnosis and Risk Stratification

jpedsurg.org

Congenital diaphragmatic hernia (CDH) is characterized by a wide range of morbidity. Although imaging studies are used for CDH risk stratification, these modalities remain limited in their predictive and informational capacity. Distinct miRNA profiles have been found in other prenatally diagnosed conditions including Twin-Twin Transfusion Syndrome. Furthermore, it is differentially expressed in amniotic fluid from pregnancies with severe CDH suggesting utility in risk stratification. We hypothesized that patients carrying fetuses with CDH would display a unique miRNA profile detectable within maternal plasma that will be associated with both disease and severity.

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Article · Jul 2025 · 1 min read

In brief

This study investigates maternal plasma microRNAs as a non-invasive biomarker for detecting and stratifying severity of fetal congenital diaphragmatic hernia (CDH). Building on evidence from other prenatal conditions, researchers explore whether unique miRNA profiles in maternal blood can improve upon current imaging-based risk assessment methods for CDH.

CDH severity prediction remains limited with current imaging modalities alone
Distinct miRNA profiles exist in maternal plasma for other prenatal conditions like TTTS
Amniotic fluid miRNA shows differential expression in severe CDH cases
Maternal plasma miRNA may offer non-invasive CDH diagnosis and risk stratification
Unique miRNA signatures could correlate with both CDH presence and disease severity

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