AI Summary & Key Takeaways
AI InsightAccurate classification of accompanying anomalies and careful postnatal follow-up are of paramount importance for prognostic counseling.
📌 3 Key Takeaways
Abstract
Introduction: Persistent left superior vena cava (PLSVC), the most common thoracic venous anomaly, frequently coexists with congenital defects, highlighting its clinical significance. To refine risk stratification, this study compares the prenatal sonographic profile, postnatal outcome data, and genetic associations between isolated and non-isolated PLSVC cases. Methods: This retrospective observational study included 24 fetuses prenatally diagnosed with PLSVC at a tertiary perinatology center. Cases were classified as isolated or non-isolated based on the presence of additional structural cardiac or extracardiac anomalies. Survival was defined as postnatal life until the last available follow-up; termination of pregnancy (TOP) and intrauterine fetal death (IUFD) were considered non-survival. Prenatal findings, genetic results, and perinatal outcomes were compared between the groups. Results: Of the total 24 cases, 4 were classified as isolated and 20 as non-isolated. Fetal growth restriction was observed significantly more frequently in non-isolated cases compared to isolated cases (20/20 vs. 2/4; p=0.01). The survival rate was significantly higher in isolated cases than in non-isolated cases (4/4 vs. 6/20; p=0.02). Genetic analysis was performed in nine cases. A chromosomal anomaly was detected in one case (1/9; 11.1%; trisomy 16q/monosomy 16p), which resulted in termination of pregnancy. In one other case, postnatal molecular genetic analysis revealed a pathogenic single-gene disorder (ALPL gene mutation). Conclusion: PLSVC cases diagnosed prenatally are frequently associated with additional structural anomalies and adverse perinatal outcomes, particularly in non-isolated cases. Accurate classification of accompanying anomalies and careful postnatal follow-up are of paramount importance for prognostic counseling.