Prenatal ultrasound diagnosis of the Holt-Oram syndrome.
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.
Brons
J T
JT
Department of Obstetrics and Gynaecology, Academisch Ziekenhuis Vrije Universiteit, Amsterdam, The Netherlands.
van Geijn
H P
HP
Wladimiroff
J W
JW
van der Harten
J J
JJ
Kwee
M L
ML
Sobotka-Plojhar
M
M
Arts
N F
NF
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