Centro Hospitalar Médio Ave, E.P.E, Vila Nova de Famalicão, Portugal.
Centro De Medicina Fetal, Serviço de Obstetrícia, Departamento da Mulher e da Medicina Reprodutiva, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto EPE, Porto, Portugal.
Birth Defects Res. 2024 Jan;116(1):e2290. doi: 10.1002/bdr2.2290. Epub 2023 Dec 15.
Interrupted aortic arch (IAA) is a rare congenital heart disease characterized by loss of continuity between the ascending and the descending aorta. Prenatal diagnosis of IAA by echocardiography is challenging but nonetheless can be accomplished via a systematization of cardiac fetal evaluation.
We report a case of fetal IAA type A prenatally diagnosed through two-dimensional echocardiography using both a three vessel-trachea view and a sagittal view.
Prenatal counseling regarding the diagnosis and prognosis about this anomaly is still challenging nowadays due to associated anomalies/chromosomal abnormalities who may impact the prognosis. Fetal autopsy in all cases of pregnancy termination after abnormal ultrasound findings is important in order to make a full diagnosis and characterize the anomaly.
主动脉弓中断（IAA）是一种罕见的先天性心脏病，其特征是升主动脉和降主动脉之间连续性中断。通过超声心动图对 IAA 的产前诊断具有挑战性，但仍可以通过对胎儿心脏评估进行系统检查来实现。
我们报告了一例通过二维超声心动图在胎儿期诊断的 A 型 IAA 病例，使用了三血管气管切面和矢状切面。
由于可能影响预后的相关畸形/染色体异常，目前对于这种异常的诊断和预后的产前咨询仍然具有挑战性。在所有超声异常发现后终止妊娠的病例中，进行胎儿尸检对于做出全面诊断和描述异常非常重要。
