Prenatal detection of right aortic arch

Gülen Yerlikaya,Tünay Efetürk,Stephanie Springer,Theresa Reischer

doi:10.1007/s00404-019-05056-5

Gülen Yerlikaya, Tünay Efetürk + Show 2 more

Open Access

https://doi.org/10.1007/s00404-019-05056-5

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Abstract

PurposeTo examine an unselective population of fetuses with right aortic arch (RAA) and suggest perinatal management. Second, to evaluate the importance and possible implication of fetal MRI in those cases.MethodsRetrospective study of 36 patients with RAA diagnosed prenatally between 2006 and 2017 in a tertiary referral center.Results32 fetuses were diagnosed with RAA and 4 with double aortic arch (DAA). 7 (19, 5%) cases had intracardiac abnormalities. Tetralogy of the Fallot was the most frequent one. Other extracardiac malformations were observed in 11/36 (30, 6%). Karyotype was available in 16 (44, 5%) cases. Two had 22q11.2 microdeletion, two trisomy 21, and one 20p12.2 duplication. Two needed surgery for respiratory symptoms. A newborn was identified with epilepsy, Lennox–Gastaud syndrome and Pallister–Killian syndrome postnatally and another one with showed hyperreflexia and premature closer of the fontanelle. Three feticides were performed for pregnancy termination in one case with 22q11 deletion, trisomy 21, and partial agenesis of corpus callosum.ConclusionRAA can be detected by fetal echocardiography and it is associated with other cardiac or non-cardiac abnormalities, 22q11 microdeletion, trisomy 21, and other chromosomal abnormalities. karyotyping should be offered in any case of RAA, irrespective of co-existing malformations. Fetal MRI is a promising diagnostic tool for assessment of congenital cardiovascular abnormalities and extracardiac anomalies.

Highlights

In right aortic arch the transverse arch is to the right of the trachea, in contrast to the normal left aortic arch
In total 36 fetuses had aortic arch abnormalities. 32 fetuses were diagnosed with right aortic arch (RAA) and 4 with double aortic arch (DAA)
One DAA presented transposition of the great arteries, which could not be confirmed after birth

Summary

Introduction

In right aortic arch the transverse arch is to the right of the trachea, in contrast to the normal left aortic arch. The incidence of right aortic arch (RAA) has been reported as 1 in 1000 in low risk-population, the exact incidence is unknown [1, 2]. There can be various forms of aortic arch abnormalities, such as right-sided aortic arch with right ductus arteriosus and with mirror image branching, RAA with aberrant left subclavian or innominate artery; right aortic arch with left ductus arteriosus (DA) and double aortic arch (DAA). The diagnosis of right-sided aortic arch is important due to possible associated cardiac and non-cardiac defects and chromosomal abnormalities, especially 22q11 microdeletion and trisomy 21 [3]. The aim of this study was to review fetuses with the diagnosis of RAA in our center to evaluate associated conditions and outcome and, to suggest perinatal and postnatal management. Evaluate the importance and possible implication of fetal MRI in those cases

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