Characterization and natural history of ventricular septal defects in the fetus

Paladini, D.; Palmieri, Stefano; Lamberti, A.; Teodoro, A.; Martinelli, Pasquale; Nappi, Carmine

doi:10.1046/j.1469-0705.2000.00202.x

Cited by 107 publications

(103 citation statements)

References 10 publications

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“…The same has been observed for the deterioration of right ventricular obstruction from pulmonary stenosis to atresia 69,70 . Less common have been reports on the resolution of a cardiac defect, for example, the intrauterine closure of ventricular septal defects 71 . The observation of the intrauterine worsening of left ventricular obstruction led logically to the first attempt at balloon valvuloplasty 72,73 in the fetus with the hope of stopping or reversing the natural history of the disease.…”

Section: Fetal Echocardiography and Cardiac Defectsmentioning

confidence: 99%

Fetal echo cardiography: the state of the art of the state of the heart

Chaoui¹

2001

Ultrasound in Obstet & Gyne

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Section: Fetal Echocardiography and Cardiac Defectsmentioning

confidence: 99%

Fetal echo cardiography: the state of the art of the state of the heart

Chaoui¹

2001

Ultrasound in Obstet & Gyne

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“…Currently, pre-natal diagnosis of VSD is relatively difficult and surgical treatment of VSds carries both mortality and morbidity risks, even though it is the most common open heart procedure performed in pediatric cardiac surgery (11,12). The heart is the first organ to form during embryogenesis, and its development is controlled by a series of important genes (13).…”

Section: Discussionmentioning

confidence: 99%

Screening for differential methylation status in fetal myocardial tissue samples with ventricular septal defects by promoter methylation microarrays

Zhu

Chen

et al. 2010

Mol Med Rep

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Abstract.To identify and provide a global assessment of dna methylation in fetal ventricular septal defect (VSd), genomic dna extracted from fetal myocardial tissue samples with VSd (n=21) and from normal fetal myocardial tissue samples (n=15) was analyzed for gene methylation using array-based technology. Furthermore, the Kiaa0310, raB43, SiVa1 and ndrG2 genes were randomly selected for validation analysis using methylation-specific PCR. Our results revealed that 70 and 85 genes were regulated by hypermethylation and hypomethylation, respectively, in VSd. different clusters of genes were associated with functions including embryo development, signal transduction, cell apoptosis and cell proliferation. In conclusion, this study identified a set of candidate genes whose expression is regulated by dna methylation in fetal VSd. Introductioncongenital heart disease (cHd) is the most common type of developmental defect, occurring in almost 1% of all neonates (1). Ventricular septal defect (VSd) is the most commonly recognized cHd (2). VSd may exist alone or as an integral part of complex cHd (3). VSd is a multifactorial complex disease, in which genetic and environmental factors play important roles. despite the availability of several surgical techniques to treat VSd, the exact molecular mechanism of this type of cHd remains unclear.dna methylation has been widely recognized as a potent mechanism for silencing gene expression and maintaining genome stability (4). dna methylation is the predominant epigenetic alteration occurring in mammalian genomes, and plays a critical functional role in development, differentiation and disease (5). Previous studies have revealed that during embryonic development, the mammalian genome undergoes profound reprogramming of dna methylation patterns in the germ and early pre-implantation embryos (6). Furthermore, the different prototypes of genes in each cell, tissue and organ are thought to be regulated by dna methylation even during early development (7).The recent advent of array-based techniques offers the opportunity for more comprehensive DNA methylation profiling (8). Comparing the DNA methylation profiles of myocardial tissue samples from VSd and normal fetuses, we provide novel information for identifying gene methylation that may be implicated in the pathological consequences of VSd. Materials and methodsTissue samples. Fetal myocardial tissue samples were obtained from nanjing Maternal and child Health Hospital. Myocardial tissue samples from 21 VSd and 15 normal fetuses at 26 weeks of gestation were obtained during surgery for pregnancy termination owing to trauma of the pregnant women. all samples were collected with the approval of the appropriate institute ethics committee, and written consent was provided by each pregnant woman and her family. The speciments were immediately snap frozen in liquid nitrogen and then stored at -80˚C until analysis.DNA methylation profiling by methylated DNA immunoprecipitation. The methylation profiling by methylated DNA immunoprecipitatio...

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“…3,6 On the other hand, during intrauterine life there is no pressure gradient between the left and right ventricles because of the physiologic patency of the ductus arteriosus and the foramen ovale; therefore, a more subtle low-velocity bidirectional shunt is present. 4,5 Detection of shunting is possible albeit dependent on a good color-operating setting and proper interrogation of the septum at an angle perpendicular to the defect. A further difficulty in diagnosing VSDs in the fetus arises from the fact that the septum does not lie on the same plane, and systematic visualization of all parts of the interventricular septum is necessary to exclude the presence of a defect.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 Although small VSDs may resolve spontaneously during prenatal or neonatal life, their intrauterine diagnosis is of importance because they may be markers for other congenital abnormalities and genetic syndromes. 1,3,4 Furthermore, they may need special assistance after birth. 3 Prenatal diagnosis of VSDs is difficult particularly when they are small, and it relies on identification of bidirectional flow across the defect area on color Doppler sonography.…”

mentioning

confidence: 99%

Role of Tomographic Ultrasound Imaging With Spatiotemporal Image Correlation for Identifying Fetal Ventricular Septal Defects

Rizzo

Capponi²,

Vendola

et al. 2008

Journal of Ultrasound in Medicine

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Objective. The purpose of this study was to test the possibility of diagnosing ventricular septal defects (VSDs) by using tomographic ultrasound imaging (TUI) on 4-dimensional volumes of the fetal chest obtained with spatiotemporal image correlation and the color Doppler function. Methods. We retrospectively evaluated the 4-dimensional spatiotemporal image correlation volumes of 8 fetuses with VSDs (single in 7 and double in 1) between 20 and 33 weeks' gestation. The data were analyzed to determine whether VSDs were correctly identified in at least 1 of 7 automatically generated TUI displays. Results. All of the included VSDs were correctly identified with the use of an interslice distance in the TUI function ranging from 0.8 to 2 mm without the need to further manipulate the volume.Conclusions. This automatic approach shows good retrieval of diagnostic cardiac planes in fetuses with VSDs, which may improve the diagnostic accuracy for this disease.

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Characterization and natural history of ventricular septal defects in the fetus

Abstract: Ventricular septal defect can undergo spontaneous closure during intra-uterine life and this process depends upon the site and the size of the defect. These data may provide useful additional information to aid prenatal counseling.

Cited by 107 publications

References 10 publications

Fetal echo cardiography: the state of the art of the state of the heart

Fetal echo cardiography: the state of the art of the state of the heart

Screening for differential methylation status in fetal myocardial tissue samples with ventricular septal defects by promoter methylation microarrays

Role of Tomographic Ultrasound Imaging With Spatiotemporal Image Correlation for Identifying Fetal Ventricular Septal Defects

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