Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography / Diagnóstico pré-natal da síndrome de Beckwith-Wiedemann pela ultrassonografia bidimensional e tridimensional

ABSTRACT

Beckwith-Wiedemann syndrome is a genetic syndrome characterized by macroglossia, omphalocele, fetal gigantism and neonatal hypoglycemia. The authors report a case of Beckwith-Wiedemann syndrome diagnosed in a 32-year-old primigravida in whom two-dimensional ultrasonography revealed the presence of abdominal wall cyst, macroglossia and polycystic kidneys. Three-dimensional ultrasonography in rendering mode was of great importance to confirm the previous two-dimensional ultrasonography findings.