Aortic arch anomalies detected in foetal life by echocardiography

Aortic arch anomalies refer to congenital malformations of position or branching pattern of the aortic arch. To-date, only a few small studies have documented prenatal detection of aortic arch anomalies. In this article, we share our experience in detecting aortic arch anomalies. Foetal echocardiograms, clinic and genetic histories of 33 patients who had been diagnosed with aortic arch anomaly from 2007 to 2015 were reviewed. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. In a patient with isolated right aortic arch, 22q11 microdeletion had been revealed. Given this data, we strongly suggest foetal karyotype analysis when aortic arch anomalies are identified.Impact StatementWhat is already known on this subject: The data about the prenatal diagnosis of aortic arch anomalies are limited.What the results of this study add: In our study, 653 patients were examined by foetal echocardiography during the study period. Thirty three patients who had been diagnosed with aortic arch anomaly prenatally and confirmed after delivery were enrolled in the study. In 15 patients, right aortic arch with mirror image branching; in 13 patients, right aortic arch with left ductus arteriosus and aberrant left subclavian artery; in three patients, left aortic arch with aberrant right subclavian artery; in one patient bilateral ductus and right aortic arch with aberrant left subclavian artery and in one patient double aortic arch were detected. Trisomy 18 was detected in the patient with bilateral ductus arteriosus and Di George syndrome (22q11 microdeletion) was determined in two patients with right aortic arch. While in the first patient, there were no other intracardiac anomalies; in the second patient with 22q11 microdeletion, Fallot tetralogy accompanied the right aortic arch.What the implications are of these findings for clinical practice and/or further research: This results showed that aortic arch anomalies can be associated with genetic anomalies even when they are found without other congenital heart disease. Given these data, we strongly suggest foetal karyotype analysis and genetic testing when aortic arch anomalies are identified.