Objectives: To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era.
Methods: Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed.
Results: DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n = 45, 45%) or without (n = 13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n = 15, 15%), atrioventricular valve atresia (n = 24, 24%), or remote VSD (n = 2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40 (40%), including 17/24 (71%) with and 22/69 (32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58 (64%) with a subaortic VSD, 5/15 (33%) with a subpulmonic VSD, 9/24 (38%) of those with AV valve atresia and 2/2 (100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p < 0.01) or pregnancy termination (12/35 vs 9/64 p = 0.03).
Conclusions: Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.
© 2021 John Wiley & Sons Ltd.