Omphalocele and gastroschisis - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Gastroschisis and omphalocele are defects of the abdominal wall that occur in utero, can be detected prenatally using fetal ultrasonography, and result in herniation of abdominal contents.
The significant fluid balance changes and heat loss from exposed intestines in gastroschisis require emergency surgical intervention to establish abdominal wall closure or temporary coverage.
The lack of a protective sac in gastroschisis exposes the intestines to amniotic fluid in utero, leading to a thick inflammatory film or peel overlying the intestine and causing delay of return of normal bowel function after closure.
Intestinal atresia, occurs in 10% to 15% of infants with gastroschisis, and is related to ischemia of the exposed gut caused by constriction of its mesenteric blood supply at the level of the abdominal wall defect.
The most common cause of mortality in omphalocele relates to associated organ system and chromosomal anomalies such as pentalogy of Cantrell and Beckwith-Wiedemann syndrome, which are characterized by cardiac anomalies and chromosomal defects.

Extruded gut in abdominal wall defect

From collection of J.J. Tepas III, MD, FACS, FAAP

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Definition

Epidemiology

Etiology

Pathophysiology

Images

Immediately after delivery, an infant with gastroschisis is placed in a protective bowel bag
Note the membrane covering the abdominal contents in this omphalocele
Extruded gut in abdominal wall defect
A staged repair of gastroschisis involves the placement of a silo to reduce contents into the abdomen
Once intestinal contents are fully reduced into the abdomen, closure of the abdominal wall follows
The abdominal wall defect in omphalocele is covered with a synthetic membrane
This ruptured omphalocele is similar in appearance to gastroschisis
A ventral hernia results from synthetic wall closure of the omphalocele
The ventral hernia is repaired in a 6-year-old girl born with omphalocele

Citations

Key Articles

Torfs CP, Velie EM, Oechsli FW, et al. A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology. 1994 Jul;50(1):44-53.[Abstract]
Langer JC, Harrison MR, Adzick NS, et al. Perinatal management of the fetus with an abdominal wall defect. Fetal Ther. 1987;2(4):216-21.[Abstract]
Glick PL, Harrison MR, Adzick NS, et al. The missing link in the pathogenesis of gastroschisis. J Pediatr Surg. 1985;20:406-9.[Abstract]
Snyder CL. Current management of umbilical abnormalities and related anomalies. Semin Pediatr Surg. 2007 Feb;16(1):41-9.[Abstract]
Sipes SL, Weiner CP, Sipes DR 2nd, et al. Gastroschisis and omphalocele: does either antenatal diagnosis or route of delivery make a difference in perinatal outcome? Obstet Gynecol. 1990 Aug;76(2):195-9.[Abstract]

Other Online Resources

American Pediatric Surgical Association

Referenced Articles

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13. Torfs CP, Velie EM, Oechsli FW, et al. A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology. 1994 Jul;50(1):44-53.[Abstract]
14. Goldbaum G, Daling J, Milham S. Risk factors for gastroschisis. Teratology. 1990 Oct;42(4):397-403.[Abstract]
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17. Langer JC, Harrison MR, Adzick NS, et al. Perinatal management of the fetus with an abdominal wall defect. Fetal Ther. 1987;2(4):216-21.[Abstract]
18. Hoyme HE, Jones MC, Jones KL. Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery. Semin Perinatol. 1983;7:294-8.[Abstract]
19. Glick PL, Harrison MR, Adzick NS, et al. The missing link in the pathogenesis of gastroschisis. J Pediatr Surg. 1985;20:406-9.[Abstract]
20. Snyder CL. Current management of umbilical abnormalities and related anomalies. Semin Pediatr Surg. 2007 Feb;16(1):41-9.[Abstract]
21. Palomaki GE, Hill LE, Knight GJ, et al. Second-trimester maternal serum alpha-fetoprotein levels in pregnancies associated with gastroschisis and omphalocele. Obstet Gynecol. 1988 Jun;71(6 Pt 1):906-9.[Abstract]
22. Martin RW. Screening for fetal abdominal wall defects. Obstet Gynecol Clin North Am. 1998 Sep;25(3):517-26.[Abstract]
23. Kirk EP, Wah RM. Obstetric management of the fetus with omphalocele or gastroschisis; a review and report of one hundred twelve cases. Am J Obstet Gynecol. 1983 Jul 1;146(5):512-8.[Abstract]
24. Wilson RD, Johnson MP. Congenital abdominal wall defects: an update. Fetal Diagn Ther. 2004 Sep-Oct;19(5):385-98.[Abstract][Full Text]
25. St-Vil D, Shaw KS, Lallier M, et al. Chromosomal anomalies in newborns with omphalocele. J Pediatr Surg. 1996 Jun;31(6):831-4.[Abstract][Full Text]
26. Feldkamp ML, Botto LD, Amar E, et al. Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43.[Abstract][Full Text]
27. Calisti A, Manzoni C, Perrelli L. The fetus with an abdominal wall defect: management and outcome. J Perinat Med. 1987;15(1):105-11.[Abstract]
28. Lewis DF, Towers CV, Garite TJ, et al. Fetal gastroschisis and omphalocele: is cesarean section the best mode of delivery? Am J Obstet Gynecol. 1990 Sep;163(3):773-5.[Abstract]
29. Moretti M, Khoury A, Rodriguez J, et al. The effect of mode of delivery on the perinatal outcome in fetuses with abdominal wall defects. Am J Obstet Gynecol. 1990 Sep;163(3):833-8.[Abstract]
30. Sipes SL, Weiner CP, Sipes DR 2nd, et al. Gastroschisis and omphalocele: does either antenatal diagnosis or route of delivery make a difference in perinatal outcome? Obstet Gynecol. 1990 Aug;76(2):195-9.[Abstract]
31. Waldhausen JHT. Surgical management of gastroschisis. Pediatrics. 2005 Nov 01;6(11):e500-7.[Full Text]
32. Government of Western Australia Child and Adolescent Health Service. Gastroschisis. Aug 2008 [internet publication].[Full Text]
33. Moran M, Mortell A. Gastroschisis: management prior to transfer to surgical centre. Sep 2020 [internet publication].[Full Text]
34. Bielicki IN, Somme S, Frongia G, et al. Abdominal wall defects-current treatments. Children (Basel). 2021 Feb 23;8(2):170.[Abstract][Full Text]
35. Skarsgard ED. Immediate versus staged repair of omphaloceles. Semin Pediatr Surg. 2019 Apr;28(2):89-94.[Abstract][Full Text]
36. Snyder CL. Outcome analysis for gastroschisis. J Pediatr Surg. 1999 Aug;34(8):1253-6.[Abstract][Full Text]
37. Raymond SL, Hawkins RB, St Peter SD, et al. Predicting morbidity and mortality in neonates born with gastroschisis. J Surg Res. 2020 Jan;245:217-24.[Abstract][Full Text]
38. Fogelström A, Caldeman C, Oddsberg J, et al. Omphalocele: national current birth prevalence and survival. Pediatr Surg Int. 2021 Nov;37(11):1515-20.[Abstract][Full Text]
39. Poaty H, Pelluard F, Lucienne IP, et al. Omphalocele: a review of common genetic etiologies. Egypt J Med Hum Genet. 2019 Dec 27;20(37).[Full Text]
40. South AP, Wessel JJ, Sberna A, et al. Hospital readmission among infants with gastroschisis. J Perinatol. 2011 Aug;31(8):546-50.[Abstract][Full Text]
41. van Eijck FC, Wijnen RM, van Goor H. The incidence and morbidity of adhesions after treatment of neonates with gastroschisis and omphalocele: a 30-year review. J Pediatr Surg. 2008 Mar;43(3):479-83.[Abstract][Full Text]
42. Riggle KM, Davis JL, Drugas GT, et al. Fatal clostridial necrotizing enterocolitis in a term infant with gastroschisis. J Pediatr surg. 2016 Nov;14:29-31.[Full Text]