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

Objective: To evaluate the incidence of chromosomal aberrations and the clinical outcomes following the prenatal diagnosis of isolated perimembranous ventricular septal defect (pVSD). Methods: This retrospective study was composed of a cohort of pregnant women whose fetuses were diagnosed with isolated pVSD. Complete examinations of the fetal heart were performed, as well as a postnatal validation echocardiography follow-up at 1 year of age. The collected data included: spontaneous closure of the pVSD, need for intervention, chromosomal aberrations and postnatal outcome. Results: Fifty-five pregnant women were included in the study. 34/55 (61.8%) of the fetuses underwent prenatal genetic workup which revealed no abnormal results. No dysmorphic features or abnormal neurological findings were detected postnatally in those who declined a prenatal genetic workup during the follow-up period of 2 years. In 25/55 of the cases (45.4%), the ventricular septal defects (VSD) closed spontaneously in utero, whereas in 17 cases of this group (30.9%) the VSD closed during the first year of life. None of the large 3 VSDs cases (>3 mm), closed spontaneously. Conclusion: Prenatally isolated perimembranous VSD has a favorable clinical outcome when classified as small-to-moderate size, children in our cohort born with such findings had no macroscopic chromosomal abnormalities.