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

摘要

Holt-Oram syndrome (HOS) is an autosomaldominant disorder consisting of a congenital heart defect incombination with upper limb abnormalities. This report pre-sents the ultrasonographic follow-up of a fetus at risk for thissyndrome. An abnormal four-chamber view of the heart andslight shortening of the forearm were found by prenatal ultra-sound performed at 16 weeks of gestation. At 25 weeks ofgestation, detailed sonographic examination clearly revealedabnormalities in the upper limbs and heart of the fetus. At39 weeks of gestation, spontaneous labor and delivery produceda female infant weighting 2940 g. Postnatal examination of theinfant confirmed the prenatal sonographic findings. 3-D ultra-sound has an important role in prenatal diagnosis of HOS,which is essential for proper genetic counseling.