A 28-year-old woman (G2P1) was referred to our antenatal unit at 17 weeks of gestation for a second opinion ultrasound due to an omphalocele. There was no known family history of congenital disease and the patient did take any medications. The nuchal translucency was 1 mm (CRL 60 mm) and the triple test was normal.
 

Our ultrasound found an omphalocele measuring 24 x 22 mm, and a small perimembranous ventricular septal defect of the heart. At 30 weeks macrosomia and macroglossia were observed. The kidneys were of normal appearance.

Amniocentesis was also performed, but revealed normal karyotype 46,XX.

The patient had delivered spontaneously at 32 weeks and the diagnosis of omphalocele and macroglossia were confirmed. Genetic testing revealed Beckwith-Wiedemann syndrome of the neonate.

Images 1, 2, 3, and 4: the images show omphalocele of the fetus.