Circulating LncRNAs as novel, non-invasive biomarkers for prenatal detection of fetal congenital heart defects

Meng Gu, Aibin Zheng, Wenjuan Tu, Jing Zhao, Lin Li, Mengmeng Li, Shuping Han, Xiaoshan Hu, Jingai Zhu, Ya Pan, Jun Xu, Zhangbin Yu

Research output: Contribution to journalArticle


Objectives: To explore the clinical value of circulating long non-coding RNAs (lncRNAs) as biomarkers to predict fetal congenital heart defects (CHD) in pregnant women. Methods: Differential expression of lncRNAs isolated from the plasma of pregnant women with typical fetal CHD or healthy controls was analyzed by microarray. Gene ontology (GO), pathway and network analysis were performed to study the function of the lncRNAs. Differentially expressed lncRNAs were validated in plasma samples from 62 pregnant women with typical CHD and 62 matched controls by RT-PCR. The sensitivity and specificity of each lncRNA in the diagnosis of fetal CHD was determined by ROC curve analysis. Results: Microarray analysis identified 3694 up-regulated and 3919 down-regulated (fold change ≥2.0) lncRNAs. The top ten significantly differentially expressed, CHD-associated lncRNAs were validated by RT-PCR. Five significantly up-regulated or down-regulated lncRNAs were identified: ENST00000436681, ENST00000422826, AA584040, AA709223 and BX478947 with the AUC of ROC curves calculated as 0.892, 0.817, 0.755, 0.882 and 0.886, respectively. Conclusions: Specific lncRNAs aberrantly expressed in the plasma of pregnant women with typical fetal CHD may play a key role in the development of CHD and may be used as novel biomarkers for prenatal diagnosis of fetal CHD.

Original languageEnglish (US)
Pages (from-to)1459-1471
Number of pages13
JournalCellular Physiology and Biochemistry
Issue number4
Publication statusPublished - Apr 1 2016
Externally publishedYes



  • Biomarker
  • Congenital heart defects
  • Gene ontology analysis
  • Long non-coding RNA
  • Maternal plasma
  • Signal pathway

ASJC Scopus subject areas

  • Physiology

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