[Association between fetal ventricular septal defects and chromosomal abnormalities]

Area of Science:

• Prenatal diagnosis
• Fetal medicine
• Medical genetics

Background:

• Ventricular septal defects (VSD) are common congenital heart abnormalities.
• Chromosomal abnormalities are a significant cause of birth defects.
• Understanding the association between VSD and chromosomal issues is crucial for prenatal counseling.

Purpose of the Study:

• To investigate the correlation between fetal VSD and chromosomal abnormalities.
• To identify specific VSD types and associated anomalies that increase the risk of chromosomal defects.

Main Methods:

• Retrospective analysis of 214 fetuses with VSD.
• Classification of VSD into perimembranous (inlet, outlet), muscular, and mixed types.
• Categorization of cases based on associated cardiac and/or extracardiac anomalies.
• Karyotype analysis or phenotypic examination for chromosomal assessment.

Main Results:

• A significant proportion of fetuses with VSD (36.5%) exhibited chromosomal abnormalities.
• Inlet VSDs (50.9%) and VSDs with extracardiac anomalies (53.6%) showed the highest incidence of chromosomal defects.
• Muscular VSDs had the lowest association with chromosomal abnormalities (8.0%).

Conclusions:

• Fetal VSD, particularly inlet types and those with extracardiac anomalies, carries a high risk of chromosomal abnormalities.
• Karyotype analysis is strongly recommended for fetuses diagnosed with VSD, especially in high-risk subgroups.