The significance of a prenatal diagnosis of right aortic arch

• Published in: Prenatal diagnosis Vol. 37; no. 4; pp. 365 - 374
• Main Authors: Wójtowicz, Anna, Respondek‐Liberska, Maria, Słodki, Maciej, Kordjalik, Paulina, Płużańska, Joanna, Knafel, Anna, Huras, Hubert
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.04.2017
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - epidemiology; Adolescent; Adult; Aorta, Thoracic - abnormalities; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - epidemiology; Female; Fetal Death; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - epidemiology; Humans; Infant; Infant Mortality; Infant, Newborn; Pregnancy; Pregnancy Outcome - epidemiology; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Vascular Malformations - diagnosis; Vascular Malformations - epidemiology; Young Adult
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.5020

Objectives To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). Methods Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in two referral centers. Results Right aortic arch was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13.1%, only extracardiac malformations. The most common noncardiac abnormalities were thymus hypoplasia/aplasia (7/17), of which six had deletion 22q.11.2. In another three fetuses, trisomy 21 was present. One intrauterine fetal death occurred at 41 weeks of pregnancy, and two fetuses died after birth. In six of 18 infants with known follow‐up, symptoms of dysphagia were reported, of which four infants underwent surgical intervention. In 12 infants, an isolated RAA was clinically silent. Conclusions The diagnosis of RAA is an indication for a detailed examination of cardiac and noncardiac structures, including the thymus. It is advisable to consider genetic testing, together with the assessment of deletion 22q11.2, especially in the case of accompanying defects. The prognosis depends on underlying cardiac and extracardiac anomalies and possibly coexisting genetic defects. Isolated anomalies are asymptomatic. © 2017 John Wiley & Sons, Ltd. What is already known about this topic? A prenatal diagnosis of RAA has clinical implications that are different from the results reported in the pediatric literature. Thus, it is important to know what to look for and how to consult these cases. What does this study add? We show a higher incidence of RAA than previously reported. Two‐thirds of fetuses with RAA had additional malformations. The most common extracardiac malformation was thymus aplasia/hypoplasia corresponding with the presence of a 22q11.2 microdeletion.