First antenatally confirmed case of arterial tortuosity syndrome

Abstract

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.