Prenatal ultrasound diagnosis of the Holt-Oram syndrome |
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| Authors: | J T J Brons H P Van Geijn J W Wladimiroff J J van der Harten M L Kwee M Sobotka-Plojhar N F Th Arts |
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| Institution: | 1. Department of Obstetrics and Gynaecology, Academisch Ziekenhuis Vrije Universiteit, Amsterdam, The Netherlands;2. Department of Obstetrics and Gynaecology, University Hospital Dijkzigt, Rotterdam, The Netherlands;3. Department of Pathology, Academisch Ziekenhuis Vrije Universiteit, Amsterdam, The Nethelands;4. Department of Clinical Genetics, Vrije Universiteit, Amsterdam, The Netherlands;5. Department of Pediatric Cardiology, Vrije Universiteit, Amsterdam, The Netherlands |
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| 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. |
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| Keywords: | Holt-Oram syndrome Prenatal diagnosis Diagnostic ultrasound |
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