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

[holt-oram syndrome]

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 .