Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications. (7th March 2022)

• Record Type: Journal Article
• Authors: Gordin Kopylov, Lital; Dekel, Nadav; Maymon, Ron; Feldman, Noa; Zimmerman, Ariel; Hadas, Dan; Melcer, Yaakov; Svirsky, Ran
• Is Part Of: Prenatal diagnosis. Volume 42:Number 4(2022)
• Page Start: 461
• Page End: 468
• Publication Date: 2022-03-07
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.6128
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: 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. Key points: What's already known about this topic? The detection rates of perimembranous ventricular septal defect (PVSD) is improving in recent years. What does this study add? We found no evidence that isolated pVSD is a significant risk factor for chromosomal anomalies. Isolated small and medium size (<3 mm) PVSD's have a favorable clinical outcome with resolution either prenatally or within the infant's first year of life.