Prenatal diagnosis of Holt-Oram syndrome: role of 3-D ultrasonography

Abstract

Holt-Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow-up of a fetus at risk for this syndrome. An abnormal four-chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3-D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.