Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities

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).  This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period...

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Bibliographic Details
Published in:Revista Brasileira de ginecologia e obstetrícia 2021-06, Vol.43 (6), p.452-456
Main Authors: Lourenço, Cátia Sofia Ferreira Pinto, Carriço, Ana Luísa, Valente, Francisco Manuel da Silva
Format: Article
Language:English
Subjects:
aberrant right subclavian artery
Adolescent
Adult
Cardiovascular Abnormalities - diagnostic imaging
Cardiovascular Abnormalities - genetics
Chromosome Aberrations
Congenital Abnormalities - diagnosis
Echocardiography
Female
genetic abnormalities
Genetic Testing
Humans
Male
OBSTETRICS & GYNECOLOGY
Original
Pregnancy
prenatal diagnosis
Retrospective Studies
screening
Subclavian Artery - abnormalities
Subclavian Artery - diagnostic imaging
Ultrasonography, Prenatal
Young Adult
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Summary: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).  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.  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.  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.
ISSN:0100-7203
1806-9339
1806-9339
DOI:10.1055/s-0041-1732461