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Characterization and natural history of ventricular septal defects in the fetus
D Paladini1, S Palmieri, A Lamberti
1Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy.
Insights
Ventricular septal defects (VSD) can spontaneously close before birth, with closure rates depending on defect size and location. This information is crucial for prenatal counseling regarding fetal heart conditions.
Area of Science:
- Cardiology
- Fetal Medicine
- Developmental Biology
Background:
- Ventricular septal defects (VSD) are common congenital heart abnormalities.
- Understanding the natural history of isolated VSD is essential for accurate prenatal diagnosis and management.
Purpose of the Study:
- To track the progression of isolated ventricular septal defects (VSD) from prenatal diagnosis through infancy.
- To identify factors influencing spontaneous closure of VSDs.
Main Methods:
- Studied 68 fetuses with isolated VSD, tracking outcomes including pregnancy termination, in utero/postnatal demise, and survival to 1 year.
- Evaluated defect characteristics (site, size) and associated anomalies.
- Utilized necropsies and echocardiography for defect assessment and closure monitoring.
Main Results:
- Significant correlation observed between VSD type and aneuploidy.
- Of 26 surviving infants, 46.1% had in utero closure, 23.1% closed within the first year, and 30.8% remained patent.
- Smaller defects (< 3 mm) had higher closure rates (84.2%) compared to larger ones (> 3 mm) (28.6%).
- Malalignment VSDs did not close, unlike peri-membranous (69%) and muscular (60%) defects.
Conclusions:
- Spontaneous closure of VSD occurs in utero and during infancy.
- Defect size and location are key determinants of VSD closure.
- Findings offer valuable data for prenatal counseling regarding isolated VSD.
Objective:
To characterize and describe the evolution of ventricular septal defects (VSD) from intra-uterine diagnosis to infancy in a population of fetuses with isolated defects.
Methods:
Sixty-eight fetuses with isolated VSD represented the study population. Of these, 28 underwent termination of pregnancy, 14 died in utero or after birth and 26 reached 1 year of age. In this population, the following variables were evaluated: presence of extracardiac or chromosomal anomalies, site and size of the defect, pregnancy outcome. These variables were assessed against closure of the VSD up to 1 year of age. Necropsies were available for all fetuses following termination of pregnancy. All surviving neonates were followed up directly or by telephone until documented echocardiographic closure of the defect or until 1 year of age.
Results:
There was a significant correlation between type of VSD and type of aneuploidy (P < 0.001). A total of 26 surviving fetuses reached 1 year of age: 46.1% (n = 12) of all defects closed in utero, 23.1% (n = 6) closed during the first year of life and 30.8% (n = 8) remained patent. Only three (15.8%) of the 19 VSDs < 3 mm remained patent in comparison with five (71.4%) of the seven defects > 3 mm (P < 0.05). None of the malalignment VSDs closed, in comparison to 69% of the peri-membranous and 60% of the muscular defects.
Conclusion:
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.