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CC BY 4.0 · Rev Bras Ginecol Obstet 2021; 43(06): 452-456
DOI: 10.1055/s-0041-1732461
Original Article
Fetal Medicine

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

Diagnóstico pré-natal de artéria subclávia direita anômala: associação com anormalidades genéticas
Cátia Sofia Ferreira Pinto Lourenço 
1   Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal
,
Ana Luísa Carriço 
1   Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal
,
Francisco Manuel da Silva Valente 
1   Centro Hospitalar de Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal
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Abstract

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.

Resumo

Objetivo O objetivo do presente estudo foi determinar a frequência de malformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA).

Métodos Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico pré-natal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais.

Resultados Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina.

Conclusão A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.

Keywords

aberrant right subclavian artery - prenatal diagnosis - screening - genetic abnormalities

Palavras-chave

artéria subclávia direita aberrante - diagnóstico pré-natal - triagem - anormalidades genéticas

Contributors

All authors were involved in the design and interpretation of the analyses, contributed to the writing of the manuscript, read and approved the final manuscript.




Publication History

Received: 23 February 2020

Accepted: 05 May 2021

Article published online:
27 July 2021

© 2021. Federação Brasileira de Ginecologia e Obstetrícia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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