Category: Maternal Fetal Medicine
Introduction: Agenesis of the ductus venosus (ADV) is a rare condition and about 80% of cases have associated anomalies. ADV can cause hydrops secondary to high-output cardiac failure. Recently there have been major advances in genetic testing and the accuracy of obstetric and fetal cardiac diagnoses has increased. Our center has also implemented frequent surveillance of high-risk pregnancies. We hypothesized that a review of our recent experience with ADV would demonstrate higher rates of genetic, cardiac and extra-cardiac diagnoses and improved survival.
Methods: Our institutional database was searched for ADV diagnoses from 2007-2018. Cardiac and obstetric ultrasounds and charts were reviewed for cardiac and extracardiac anomalies, genetic results and outcomes.
Results: Fourteen cases were diagnosed at a mean gestational age (GA) of 23.8 weeks (range 13-26). A cystic hygroma was present in 29% (4/14) and an increased nuchal fold in 14% (2/14). Cardiac output was >95th percentile in 60% (6/10) at diagnosis and 80% (8/10) at some point pre-delivery. One had hydrops at presentation and another developed hydrops. Eight (57%) had cardiac anomalies and 1 other developed hypertrophic cardiomyopathy by 6 months. Extra-cardiac anomalies were present in 86% (12/14). Causative/presumed causative diagnoses were made in 43% (6/14): 2 trisomy 21, 2 Noonan syndrome, 1 RASA1 related disorder, 1 PHACE syndrome. There was 1 intra-uterine death, 13 live births at a mean GA of 36.4 weeks (range 30-40) and 2 neonatal deaths. All cases had an associated genetic, cardiac or extra-cardiac anomaly.
Conclusion: Our findings confirmed the hypothesis that our cohort had more genetic, cardiac and non-cardiac diagnoses and a lower mortality than those in the published literature. Advanced genetic testing beyond what is routinely performed facilitated making further causative diagnoses. In our experience, high cardiac output occurs frequently, however there is a relatively low risk of hydrops and intrauterine death.
Oana Caluseriu– Geneticist, University of Alberta
Tim Colen– Fetal and Pediatric Cardiologist, University of Alberta
Luke Eckersley– Fetal and Pediatric Cardiologist, University of Alberta
Lisa Hornberger– Fetal and Pediatric Cardiologist, Univeristy of Alberta