Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities
Cátia Sofia Ferreira Pinto Lourenço1, Ana Luísa Carriço1, Francisco Manuel da Silva Valente1
1Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.
Objective:
The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA).
Methods:
This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records.
Results:
An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed a malformation: one case of hypospadias and 1 case of cleft palate.
Conclusion:
The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.
Related Concept Videos
The Arch of Aorta
Encircling the heart, the coronary arteries form a ring-like structure before...
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Arteries of the Upper Limbs
Cardiac Catheterization II: Right Heart Catheterization
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Aortic Regurgitation II: Clinical Features and Diagnostic Tests


