Maternal body fluid lncRNAs serve as biomarkers to diagnose ventricular septal defect: from amniotic fluid to plasma

Huaming Wang; Xi Lin; Xinda Wang; Xinxiu Liu; Shaozheng He; Guorong Lyu

doi:10.3389/fgene.2023.1254829

Maternal body fluid lncRNAs serve as biomarkers to diagnose ventricular septal defect: from amniotic fluid to plasma

Front Genet. 2023 Sep 6:14:1254829. doi: 10.3389/fgene.2023.1254829. eCollection 2023.

Authors

Huaming Wang^#¹, Xi Lin^#², Xinda Wang^#³, Xinxiu Liu⁴, Shaozheng He¹, Guorong Lyu¹

Affiliations

¹ Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China.
² Department of Diagnostic Radiology, Fujian Cancer Hospital of Fujian Medical University, Fuzhou, Fujian, China.
³ Department of Radiology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, Fujian, China.
⁴ Department of Medical Ultrasound, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China.

^# Contributed equally.

Abstract

Background: Maternal body fluids contain abundant cell-free fetal RNAs which have the potential to serve as indicators of fetal development and pathophysiological conditions. In this context, this study aimed to explore the potential diagnostic value of maternal circulating long non-coding RNAs (lncRNAs) in ventricular septal defect (VSD). Methods: The potential of lncRNAs as non-invasive prenatal biomarkers for VSD was evaluated using quantitative polymerase chain reaction (qPCR) and receiver operating characteristic (ROC) curve analysis. The biological processes and regulatory network of these lncRNAs were elucidated through bioinformatics analysis. Results: Three lncRNAs (LINC00598, LINC01551, and GATA3-AS1) were found to be consistent in both maternal plasma and amniotic fluid. These lncRNAs exhibited strong diagnostic performance for VSD, with AUC values of 0.852, 0.957, and 0.864, respectively. The bioinformatics analysis revealed the involvement of these lncRNAs in heart morphogenesis, actin cytoskeleton organization, cell cycle regulation, and protein binding through a competitive endogenous RNA (ceRNA) network at the post-transcriptional level. Conclusion: The cell-free lncRNAs present in the amniotic fluid have the potential to be released into the maternal circulation, making them promising candidates for investigating epigenetic regulation in VSD.

Keywords: epigenetic; long non-coding RNA; maternal body fluids; prenatal diagnosis; ventricular septal defect.

Grants and funding

This work was supported by the Qihang Fund of Fujian Medical University (grant number 2020QH2039) and Quanzhou City Science and Technology Program of China (grant number 2021C059R).