Prenatal diagnosis and postnatal outcomes of right aortic arch anomalies

To give a report on the experience of our tertiary perinatology clinic on the pre- and postnatal management of the right aortic arch (RAA) by evaluating the patients as isolated and non-isolated RAA.

Patients referred to our perinatology clinic for fetal echocardiography were evaluated retrospectively. They were assessed in two groups: isolated RAA and non-isolated RAA. The isolated RAA group consisted of patients without any additional cardiac or extracardiac anomalies. According to our routine practice, all patients received detailed prenatal ultrasonography following fetal echocardiography and genetic counseling.

A total of 60 patients were evaluated. 38 patients (63.3%) presented with additional cardiac anomalies. 21.7% had extracardiac anomalies, including 16.7% who also had cardiac anomalies. In 2 patients (3.7%) 22q11.2 microdeletion, in 2 patients (3.7%) trisomy 21, in 1 patient (1.9%) trisomy 13 and in 1 patient (1.9%) 20p12.1p11.23 (a deletion of 2880 kbp) were reported. The most common cardiac anomaly associated with RAA was Tetralogy of Fallot (25%). Fetal growth restriction was reported in 8.3% of the cases. 18 patients had isolated RAA. 16 out of the 18 patients had normal genetic analysis. 2 of them (11.11%) presented with a 22q11.2 microdeletion.

A single-center experience on the diagnosis and management of RAA has been reported in this study. The results indicate that a prenatal cardiac evaluation in 3VV is of utmost importance in all pregnancies to detect RAA and refer these patients to the appropriate perinatology clinics for further evaluation and care.