Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis

Abstract

Idiopathic infantile arterial calcification (IIAC) is a rare and nearly always fatal disorder. To date, prenatal diagnosis has been reported in fewer than 10 cases. We describe a series of three cases in which the diagnosis of IIAC was made at 23, 25 and 29 weeks' gestation. All three cases presented with a normal anatomy scan at 20 weeks' gestation with an echogenic intracardiac focus. Follow-up scans showed generalized hyperechogenicity and calcification of the walls of the large arteries, particularly the aorta and the iliac arteries. All cases developed hydrops fetalis with cardiomegaly and polyhydramnios later in gestation, resulting in intrauterine fetal death in two cases and neonatal death immediately following delivery in the third. This is the largest case series and the earliest gestational age of prenatal diagnosis of IIAC reported to date. When surveying for the disease, serial scans are important, perhaps from 20 weeks' gestation, with close examination of the iliac and aortic arteries. Detection of echogenic intracardiac focus could be an early marker in patients with a family history of the disease. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.