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. 2022 Nov 19;22(1):853.
doi: 10.1186/s12884-022-05190-0.

Prenatal diagnosis and mRNA profiles of fetal tetralogy of Fallot

Zhongshan Gou #  1 , Yan Zhou #  2 , Hongjing Jia  3 , Zhong Yang  3 , Qian Zhang  4 , Xinxin Yan  5
Affiliations

Prenatal diagnosis and mRNA profiles of fetal tetralogy of Fallot

Zhongshan Gou et al. BMC Pregnancy Childbirth. .

Abstract

Tetralogy of fallot (TOF) in the fetus is a typical congential heart disease that occurs during the early embryonic period, being characterized by the abnormal development of conus arteriosus. The early diagnosis and prevention of fetal TOF is very important and there is a great need for exploring the pathogenesis of it in clinic. In this study, there were three cases being detected with TOF by fetal echocardiogram and confirmed by autopsy. We characterize the difference of expression of lncRNAs and mRNAs through sequencing analysis of 3 pairs of myocardial tissues of fetal TOF and those of age-matched controls. Compared with normal group, there were 94 differentially expressed lncRNAs and 83 mRNA transcripts in TOF (P < 0.05). Correlation analysis between lncRNA and mRNA further showed that differentially expressed lncRNA can be linked to mRNAs, suggesting the potential regulator role of lncRNA in mRNA expression. Our data serve as a fundamental resource for understanding the disease etiology of TOF.

Keywords: Autopsy; Fetal echocardiogram; Fetal tetralogy of fallot; Interactive effect; lncRNA; mRNA.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1
Fig. 1
Ultrasonographic observation of fetal TOF. A In the left ventricular outflow tract view, a malalignment-type VSD was detected, and the aorta root overrode the ventricular septum. B In the short axis view of great arteries, the conal septum moved anteriorly, and stenosis of the RVOT and PA were identified. C The diameters of branch pulmonary arteries were slightly small but closed to normal. D The typical “double-peak” pattern in systole of spectral Doppler ultrasound in the PA confirmed stenosis of the PA
Fig. 2
Fig. 2
Autopsy findings of fetuses with TOF. A The anterior surface view of the fetal heart showed that the PA was significantly smaller than the aorta. Interestingly, the ductus arteriosus connected the PA and the right common carotid artery. B Then, the RV and RVOT opened, and a muscular obstruction of the RVOT and a small PA were clearly identified. C A perimembranous VSD was observed from the RV, and the root of the aorta overrode the ventricle septum. D The LV was opened, and the perimembranous VSD and the overriding of the aorta were confirmed
Fig. 3
Fig. 3
Differentially expressed lncRNAs were shown in the heatmap between the control and fetal TOF group. The darkness of color represents the mean abundance of normalized expression levels across samples between groups
Fig. 4
Fig. 4
Differentially expressed mRNAs were shown in the heatmap between the control and fetal TOF group. The darkness of color represents the mean abundance of normalized expression levels across samples between groups
Fig. 5
Fig. 5
The function of abnormal expression of mRNA showed that some were involved in the pathways of the pathogenesis of many tissues and organs
Fig. 6
Fig. 6
Protein to protein interactions between differential expressed mRNAs. Different colors represent protein to protein interaction clusters by using k-means method
See this image and copyright information in PMC

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