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Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome
D L Viljoen1, Z Jaquire, D L Woods
1Department of Human Genetics, University of Cape Town, South Africa.
Prenatal Diagnosis
|March 1, 1991
Abstract:
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.