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Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications

Lital Gordin Kopylov1,2, Nadav Dekel1,2, Ron Maymon1,2

  • 1Obstetrical Unit, Shamir Medical Center (formerly Assaf Harofeh Medical Center), Zerifin, Israel.

Prenatal Diagnosis
|March 1, 2022
PubMed

Insights

Prenatal diagnosis of isolated perimembranous ventricular septal defect (pVSD) shows a favorable outcome. Most cases had no chromosomal abnormalities and small-to-moderate defects closed spontaneously.

Area of Science:

  • Cardiology
  • Prenatal Diagnosis
  • Genetics

Background:

  • Isolated perimembranous ventricular septal defects (pVSD) are common congenital heart abnormalities.
  • Evaluating chromosomal aberrations and clinical outcomes is crucial for prenatal counseling.

Purpose of the Study:

  • To assess the incidence of chromosomal abnormalities in fetuses with isolated pVSD.
  • To determine the clinical outcomes, including spontaneous closure and need for intervention, in infants with isolated pVSD.

Main Methods:

  • Retrospective study of pregnant women with fetal isolated pVSD diagnosis.
  • Fetal echocardiography and postnatal echocardiography at 1 year.
  • Data collection on VSD closure, interventions, chromosomal status, and outcomes.

Main Results:

  • No chromosomal abnormalities were found in 61.8% of fetuses undergoing genetic workup.
  • 45.4% of pVSDs closed spontaneously in utero; 30.9% closed within the first year.
  • Large VSDs (>3 mm) did not close spontaneously.

Conclusions:

  • Isolated pVSD diagnosed prenatally has a favorable prognosis, especially when small-to-moderate in size.
  • Children with isolated pVSD in this cohort had no macroscopic chromosomal abnormalities.
Abstract

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