P01.08: Characteristics and outcome of isolated right and double aortic arch in the fetus

Abstract

Objectives: To assess the characteristics and the outcome of right and double aortic arch without any associated major intracardiac defect. Methods: Observational trial of 16 fetuses with a confirmed diagnosis of right aortic arch (14 cases) or double aortic arch (2 cases). All of them underwent fetal echocardiography and detailed anatomic scan. Karyotyping was performed in 13/16 cases; FISH analysis to detect 22q11 microdeletion in 12/16 cases. The following variables were retrieved from databases and evaluated: indication for referral, gestational age at diagnosis, associated anomalies, fetal growth restriction, fetal/neonatal outcome. Results: Sixteen fetuses were identified with a median gestational age at diagnosis of 26 weeks (range 21–35). Arch anomalies included: double aortic arch (2 cases, 12.5%), right aortic arch with an aberrant left subclavian artery (5 cases, 31.3%), and right aortic arch with mirror image branching (9 cases, 56.2%). In all but 2 cases the correct diagnosis was made at the first US examination; in the remaining 2 cases at the subsequent follow up examination. In two fetuses a ventricular septal defect was associated. Extracardiac anomalies were found in six cases, and were associated with 22q11 microdeletion in two cases. The 22q11 microdeletion was present in 3/12 cases. Fetal growth restriction was present in 3 cases. Fetal/neonatal outcome was as follows: 3 terminations of pregnancy, 1 post-neonatal death and 12 neonates alive. One case was already symptomatic within the first 3 months of life. Conclusion: Although there are only few reports, because of its not easily detection and rarity, right and double aortic arch can be characterized in prenatal life. However in 2/16 cases the correct diagnosis was made at the subsequent follow up examination. The use of 3-D PDU rendering facilitates significantly the spatial understanding of these anomalies.