The antenatal ultrasonographic detection of the Holt-Oram syndrome.
The Holt-Oram syndrome is an autosomal dominant disease with 100% penetrance. No correlation exists between the maternal clinical expression and that of the affected offspring. The syndrome includes a wide range of cardiac and skeletal malformations. Real-time ultrasound, with a detailed study of the fetal heart and skeletal system, can play a crucial role in the counselling of affected pregnant women. This study describes the ultrasonographic findings of 2 affected fetuses at risk (at 34 and 14 weeks' gestational age). Ultrasonography detected and correctly estimated the severity of the cardiac and skeletal expressions.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D014463:Ultrasonography