Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome.
A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.
Viljoen
D L
DL
Department of Human Genetics, University of Cape Town, South Africa.
Jaquire
Z
Z
Woods
D L
DL
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging*; D001724:Birth Weight; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006529:Hepatomegaly / Q000000981:diagnostic imaging; D006801:Humans; D008260:Macroglossia / Q000000981:diagnostic imaging; D008265:Macrostomia / Q000000981:diagnostic imaging; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal