Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies

Abstract

Objective To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA). (8.5% (95% CI, Methods

Fetal right aortic arch: associated anomalies, genetic anomalies with chromosomal microarray analysis, and postnatal outcome

“…As published reports described, fetal RAA with a left ductus was a predominant finding in our series (73.2% of cases). If the cases with intracaridac anomalies were excluded, the prevalence rate of left ductus was about 95%, which was similar to previous stuides . Fetal RAA with a left ductus is more obvious, presenting a U‐sign on 3VT view, unfortunately RAA with a right ductus is more insidious.…”

“…The association between RAA, intracardiac anomalies and 22q11.2 microdeletion syndrome has been reported in several studies . In addition, the fact that fetuses with RAA‐no intracardiac anomalies (ICA) and 22q11.2 deletion is present in a clinically significant proportion has also been published recently . Microarray‐based analysis allows the identification of presence of copy number variants (CNVs) within the genome.…”

“…[4][5][6] In addition, the fact that fetuses with RAA-no intracardiac anomalies (ICA) and 22q11.2 deletion is present in a clinically significant proportion has also been published recently. 7 Microarray-based analysis allows the identification of presence of copy number variants (CNVs) within the genome. Published studies have demonstrated that genetic analysis using chromosomal microarray analysis (CMA) could lead to an incremental detection of causal chromosomal imbalances in fetuses with congenital heart diseases, [8][9][10] but the reported of CNVs in the fetuses with RAA is limited.…”

Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types

“…The association of RAA and cardiac abnormalities with 22q11.2 deletion was established. The incidence of 22q11.2 deletion was approximately 4% to 8.5% in cases of isolated RAA without cardiac malformation but up to 100% in those with an RAA, conotruncal malformation and an absent patent ductus arterious (PDA) …”

Fetal cardiac abnormalities: Genetic etiologies to be considered

“…The most common cardiac defects are conotruncal defects: TOF, pulmonary atresia with ventricular septal defect, IAA, mainly type B, truncus arteriosus, and ventricular septal defects(Table ) . Other anomalies of the aortic arch are also frequently seen with 22q11 deletion in both the prenatal and postnatal settings: cervical aortic arch (CAA), double aortic arch (DAA), right‐sided aortic arch (RAA), and abnormal origin of the subclavian arteries: they may be isolated or in association with other cardiac defects . Regardless of the cardiac diagnosis, a concurrent aortic arch anomaly (AAA) is strongly associated with deletion status (OR 5.07, 95% CI, 3.66‐7.04); in the TOF subset, the strongest predictor of deletion status is an AAA …”