title: 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.
authors.affiliation: Department of Obstetrics and Gynaecology, Academisch Ziekenhuis Vrije Universiteit, Amsterdam, The Netherlands.
authors.forename: J T
authors.initials: JT
authors.lastname: Brons
authors.forename: H P
authors.initials: HP
authors.lastname: van Geijn
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
authors.forename: J J
authors.initials: JJ
authors.lastname: van der Harten
authors.forename: M L
authors.initials: ML
authors.lastname: Kwee
authors.forename: M
authors.initials: M
authors.lastname: Sobotka-Plojhar
authors.forename: N F
authors.initials: NF
authors.lastname: Arts
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography