Prenatal diagnosis and clinical implications of an apparently isolated right aortic arch. (16th December 2018)

• Record Type: Journal Article
• Authors: Vigneswaran, Trisha V.; Allan, Lindsey; Charakida, Marietta; Durward, Andrew; Simpson, John M.; Nicolaides, Kypros H.; Zidere, Vita
• Is Part Of: Prenatal diagnosis. Volume 38:Number 13(2018)
• Page Start: 1055
• Page End: 1061
• Publication Date: 2018-12-16
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5388
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract : What is already known about the topic? Right aortic arch (RAA) has an association with extracardiac and chromosomal anomalies. RAA with left arterial duct can form a vascular ring. In children with RAA, there is poor correlation of symptoms and tracheal compression. What does this study add? The majority of prenatal cases of an isolated RAA in our cohort are identified during routine screening. Microdeletion of chromosome 22q11 is the most common genetic association with an apparently isolated RAA, it is seen in a minimum of 7% of cases. A chromosomal or genetic anomaly is found in half of fetuses with RAA and increased nuchal translucency thickness (NT) and in one‐fifth of those with normal NT. Abstract: Objective: To define the associations of a prenatally diagnosed, apparently isolated right aortic arch (RAA) with chromosomal or genetic abnormalities and tracheal compression. Methods: This was a retrospective study of apparently isolated RAA assessed by fetal cardiologists and fetal medicine specialists at Kings College Hospital, London between 2000 and 2017. Results: The search identified 138 cases of apparently isolated RAA. Invasive testing was performed in 75, and chromosomal or genetic anomalies were identified in 16 (22%), and the most common was 22q11 microdeletion. An aberrant left subclavian artery was seen in 51% of cases. Symptoms of a vascular ring were present in 24 of 97 (25%) children who were reviewed after birth. Bronchoscopy was performed in 33 children, and significant tracheal compression was diagnosed in 28, including 18 of 19 symptomatic and 10 of 14 asymptomatic children. Conclusions: An apparently isolated RAA is associated with a high incidence of chromosomal or genetic abnormalities and a high incidence of tracheal compression in symptomatic and asymptomatic patients. Prenatal counselling for genetic associations and postnatal airway assessment in the context of the vascular anatomy is recommended.