Omphalocele and gastroschisis

Gastroschisis and omphalocele are defects of the abdominal wall that occur in utero and result in herniation of abdominal contents. Ultrasonography performed prenatally in the second trimester can detect abdominal wall defects by visualization of a mass outside of the abdominal wall. A careful physical exam at birth revealing abdominal contents external to the abdominal wall is diagnostic of omphalocele and gastroschisis.

No intrauterine interventions are available for the treatment of omphalocele or gastroschisis. After delivery of the infant, initial goals of management are temperature maintenance, fluid resuscitation, and preventing additional fluid loss from the abdominal contents, as well as prevention of ischemia and infarction of the intestine.

In omphalocele, as the abdominal contents have a protective membranous covering in utero, the intestines are usually healthy at birth. It is often associated with other chromosomal and congenital anomalies, including congenital cardiac defects, which can increase mortality. For example, omphalocele can be associated with Beckwith-Wiedemann syndrome and pentalogy of Cantrell which are characterized by cardiac anomalies and chromosomal defects. Surgical repair of omphalocele is elective, unless the membranous sac is ruptured.

In gastroschisis there is a lack of a protective sac. 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. Additionally, a thick inflammatory film or peel overlying the intestine from exposure to amniotic fluid in utero typically leads to a delay of return of normal bowel function after closure.

Intestinal atresia, which occurs in 10% to 15% of infants with gastroschisis, is related to ischemia of the exposed gut caused by constriction of its mesenteric blood supply at the level of the abdominal wall defect.

Gastroschisis and omphalocele are congenital defects of the abdominal wall resulting in intestinal herniation from the abdominal cavity. In contrast to omphalocele, there is no sac covering the intestines in gastroschisis. They can both be detected prenatally using fetal ultrasonography. Limited studies have attempted to categorize gastroschisis defects into subsets of simple or complex defects, with simple gastroschisis existing as an isolated defect, and complex gastroschisis occurring with other gastrointestinal anomalies such as intestinal atresia, perforation, necrosis, or volvulus.

Vanishing gastroschisis is a rare complication of gastroschisis.[1]Kiesewetter WB. Gastroschisis; report of a case. AMA Arch Surg. 1957 Jul;75(1):28-30. http://www.ncbi.nlm.nih.gov/pubmed/13434585?tool=bestpractice.com [2]Ponce MM, Hermans D, de Magnee C, et al. Vanishing gastroschisis visualized by antenatal ultrasound: a case report and review of literature. Eur J Obstet Gynecol Reprod Biol. 2018 Sep;228:186-90. http://www.ncbi.nlm.nih.gov/pubmed/29980113?tool=bestpractice.com ​​ The abdominal wall may close on the viscera during pregnancy, leading to ischemia and atresia.[2]Ponce MM, Hermans D, de Magnee C, et al. Vanishing gastroschisis visualized by antenatal ultrasound: a case report and review of literature. Eur J Obstet Gynecol Reprod Biol. 2018 Sep;228:186-90. http://www.ncbi.nlm.nih.gov/pubmed/29980113?tool=bestpractice.com