Fig. 1
Newborn infant with omphalocele. The omphalocele defect occurs within the umbilicus and is covered with a transparent sac (Source: Centers for Disease Control and Prevention, Atlanta, GA. http://www.cdc.gov/ncbddd/birthdefects/Omphalocele-graphic.html. Downloaded 17 Dec 2013)
(a)
Embryology: defect in umbilical ring occurs during 3rd week of gestation when yolk sac resides on the outside of the embryo.
(b)
Epidemiology: associated with Beckwith-Wiedemann syndrome, Lower midline syndrome, Pentalogy of Cantrell, and trisomies 13–18, and 21. More prevalent in males.
(i)
Beckwith-Wiedemann: gigantism, macroglossia, umbilical defect, visceromegaly, pancreatic islet cell hyperplasia; also associated with tumors: Wilms’, neuroblastoma, adrenocortical.
(ii)
Lower midline syndrome: exstrophy of the bladder or cloaca, ambiguous genitalia, vesicointenstinal fissure, colonic atresia, imperforate anus, and sacral vertebral defects.
(iii)
Cantrell’s Pentalogy: omphalocele, anterior diaphragmatic hernia, sternal cleft, cardiac defects including ectopia cordis.
2.
Diagnosis: usually by fetal sonography at 20 weeks gestation. Amniocentesis can diagnose chromosome abnormalities.
3.
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Treatment:
(a)
Vaginal delivery is still possible. A cesarean section is considered if the omphalocele is extremely large.
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