Prenatal diagnosis in autosomal dominant Beckwith‐Wiedemann syndrome

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.