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.