Prenatal Diagnosis of Idiopathic Infantile Arterial Calcification

Abstract

AbstractIdiopathic infantile arterial calcification is a rare disorder which is generally fatal and characterized by extensive calcification of large- and medium-sized arteries. The diagnosis is usually made at autopsy or in the neonatal period, when there is cardiac failure. Prenatal diagnosis is possible in the latter half of pregnancy when there are hyperechoic vessel walls, hypertrophied ventricular musculature, and nonimmune fetal hydrops. There are only few cases reported to have been diagnosed antenatally. The inheritance is autosomal recessive and most of the affected individuals have mutations in ENPP1 and ABCC6 genes. Molecular genetic tests and genetic counseling should be offered to provide early prenatal diagnosis in subsequent pregnancies.