Sonographic prenatal diagnosis of congenital Marfan syndrome

Abstract

Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems. Familial mutations of FBN1 have been studied and identified in Marfan syndrome, but the congenital variant is often due to de novo mutations, limiting the diagnostic capabilities of genetic screening. Ultrasound is essential for early diagnosis and management, yet few cases of sonographic diagnosis have been cited in the literature. This report outlines one such case of congenital Marfan syndrome diagnosed at 24-week ultrasound. Further detailed reports should aim to improve screening, diagnosis, and treatment of congenital Marfan syndrome to advance options in family planning and disease management.