Prenatal diagnosis of vascular anomalies

Abstract

Vascular anomalies are rare disorders that encompass a group of lesions characterized by abnormal development of the lymphovascular system. Majority of these anomalies are present at birth and could potentially be detected during the prenatal period on imaging. This allows for early intervention and prompt management to improve outcomes. However, they can be difficult to diagnose, given the rarity and overlapping findings. In this review article, we provide a comprehensive overview of congenital vascular anomalies with a liberal use of images of recent cases at our center emphasizing prenatal imaging findings and the natural history of these conditions. Key points What's already known about this topic?� Vascular anomalies can be present at birth and lead to significant morbidity and mortality if not recognized early.� Many of these lesions can be identified on prenatal imaging. What does this study add� A comprehensive review of the prenatal imaging findings of vascular anomalies with a liberal use of images.� Includes brief case descriptions and natural history of some of these vascular anomalies.

Congenital Vascular and Lymphatic Diseases

“…Although prenatal identification of capillary malformations through imaging is not possible, diagnosis can be made at birth based on appearance, family history, and histopathology showing dilated capillaries in the upper dermis. 52 A somatic activating mutation, R183Q, in GNAQ predominantly causes capillary malformations associated with Sturge-Weber syndrome or in isolated lesions, although a novel rare mutation, Q209R, has also been recently discovered. [6][7][8][9] A small subset of capillary malformations is also associated with somatic missense mutations in GNA11.…”

Soft tissue sarcoma mimicking an arteriovenous malformation – A case report and review of literature

“…Arteriovenous malformation (AVM) encompasses a wide range of conditions, including vascular disruption anomalies, vascular malformations and tumors caused by abnormal proliferation or development of vascular and/or lymphatic vessels [ 1 , 2 ]. AVMs are classified into two major groups: vascular tumors and vascular malformations, and their precise pathogenesis is still not fully understood leading to high rates of misdiagnosis [ 3 , [4] , [5] , [6] , [7] ].…”

“…The precise diagnosis of AVM presents a significant challenge due to their heterogeneity, the inconsistent nomenclature, rarity, overlapping clinical presentations, and diverse diagnostic criteria often leading to misdiagnosis [ 2 , 12 ]. VA can also mimic other conditions like lymphatic malformations, synovial sarcoma, and cutaneous cysts, requiring the use of different imaging modalities, such as MRI, to differentiate them and provide insights into their morphologic characteristics [ 13 ].…”