Prenatal ultrasound diagnosis of the Holt-Oram syndrome

Abstract

The Holt‐Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow‐up of two fetuses at risk for the Holt‐Oram syndrome. In the first fetus, the existence of Holt‐Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt‐Oram syndrome.