PRENATAL DIAGNOSIS OF INTERRUPTED AORTIC ARCH: A NARRATIVE REVIEW OF ECHOCARDIOGRAPHIC FINDINGS AND DIAGNOSTIC CHALLENGES

Magdalena Kiełbasiewicz; Weronika Goryniak; Mikołaj Staszewski; Karolina Zawadzka; Wojciech Łysoniewski; Patrycja Mularczyk; Tomasz Mruzek; Artur Marcysiak; Małgorzata Sikorska; Nina Polek

doi:10.31435/ijitss.2(50).2026.5780

Authors

Magdalena Kiełbasiewicz Nowodworskie Centrum Medyczne, ul. Miodowa 2, 05-100 Nowy Dwór Mazowiecki, Poland https://orcid.org/0009-0003-7055-0518
Weronika Goryniak Samodzielny Publiczny Specjalistyczny Zakład Opieki Zdrowotnej „ZDROJE”, Mączna 4, 70-780 Szczecin, Poland https://orcid.org/0009-0003-3587-2183
Mikołaj Staszewski Mazowiecki Szpital Wojewódzki im. św. Jana Pawła II w Siedlcach, ul. Księcia Józefa Poniatowskiego 26, 08-110 Siedlce, Poland https://orcid.org/0009-0001-4433-3144
Karolina Zawadzka Nowodworskie Centrum Medyczne, ul. Miodowa 2, 05-100 Nowy Dwór Mazowiecki, Poland https://orcid.org/0009-0005-8304-4993
Wojciech Łysoniewski Szpital Specjalistyczny im. F. Ceynowy w Wejherowie, ul. dr. A. Jagalskiego 10, 84–200 Wejherowo, Poland https://orcid.org/0009-0006-4850-6379
Patrycja Mularczyk Nowodworskie Centrum Medyczne, ul. Miodowa 2, 05-100 Nowy Dwór Mazowiecki, Poland https://orcid.org/0009-0000-1733-7185
Tomasz Mruzek UCK WUM Centralny Szpital Kliniczny, ul. Banacha 1a, 02-097 Warszawa, Poland https://orcid.org/0009-0002-3800-0172
Artur Marcysiak Mazowiecki Szpital Wojewódzki im. św. Jana Pawła II w Siedlcach, ul. Księcia Józefa Poniatowskiego 26, 08-110 Siedlce, Poland https://orcid.org/0009-0002-8801-3836
Małgorzata Sikorska Nowodworskie Centrum Medyczne, ul. Miodowa 2, 05-100 Nowy Dwór Mazowiecki, Poland https://orcid.org/0009-0006-3768-7338
Nina Polek Cardinal Stefan Wyszynski University in Warsaw, Warsaw, Poland https://orcid.org/0009-0000-3233-5866

DOI:

https://doi.org/10.31435/ijitss.2(50).2026.5780

Keywords:

Interrupted Aortic Arch (IAA); Fetal Echocardiography; Prenatal Diagnosis; 22q12.2 Deletion Syndrome; Aortic Arch Anomalies; Congenital Heart Disease; Coarctation of The Aorta (CoA)

Abstract

Interrupted aortic arch (IAA) is a rare but severe congenital heart defect characterized by the absence of luminal continuity between the ascending and descending aorta. Early prenatal diagnosis of IAA enables genetic evaluation, delivery planning and appropriate postnatal surgical management, thereby significantly improving neonatal outcomes. This narrative review aims to summarize current knowledge regarding the embryology, classification, associated anomalies, and prenatal echocardiographic diagnosis of fetal IAA, with particular emphasis on clinically relevant imaging features and diagnostic challenges. A literature-based review of previously published studies and clinical reports concerning fetal IAA was performed. Prenatal detection relies primarily on detailed echocardiography with four-chamber and three-vessel views. The second trimester appears to provide the most optimal conditions for diagnosis, as fetal size and position at that gestational age facilitate improved imaging. Characteristic findings of IAA include V-shaped, Y-shaped or W-shaped configurations of the aortic arch and lack of visible continuity between the ascending and descending aorta. Additional findings may include an abnormally shaped ductus arteriosus described as the “broken hockey stick” sign. Quantitative parameters suggestive of IAA include elevated pulmonary artery-to-aorta ratio (PA/Ao) and ventricular disproportion. IAA exhibits strong association with ventricular septal defect (VSD) and 22q11.2 deletion syndrome (especially type B IAA); therefore, detection of these abnormalities should prompt detailed assessment of the fetal aortic arch. Despite advances in fetal echocardiography, prenatal diagnosis remains challenging due to the rarity of IAA, variable presentation and overlapping echocardiographic features with other aortic arch anomalies, particularly coarctation of the aorta.

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