The other pregnancy resulted in an intrauterine death at 26 weeks, and the fetus showed an omphalocele but no other evidence of the Beckwith-Wiedemann syndrome. She was referred in this pregnancy at 21 weeks gestation because of a fetal abdominal wall defect. The biometry was appropriate for gestational age, the amount of amniotic fluid was normal, and no other malformations were evident. Amniotic fluid levels of alpha-fetoprotein and acetylcholinesterase were normal. Midsagittal scan showing omphalocele and hydramnios at 27 weeks gestation.
Arrow indicates macroglossia.
Profile of same neonate's face 4 weeks after birth. The diagnosis of Beckwith-Wiedemann syndrome was made based on the combination of macroglossia and an omphalocele. At 31 weeks a cesarean section was performed because of fetal distress after premature rupture of the membranes. One hour after delivery, a pediatric surgeon was able to reduce the contents of the omphalocele into the abdominal cavity. Ultrasonography of the kidneys was normal.