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Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research
Marcia L Feldkamp1, John C Carey, Thomas W Sadler
1Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA. mfeldkamp@utah.gov
Insights
Gastroschisis, a birth defect, is increasing globally. A new hypothesis suggests abnormal ventral body wall folding during embryonic development causes this defect, offering insight into its origins.
Area of Science:
- Developmental biology
- Pediatric surgery
- Medical genetics
Background:
- Gastroschisis is a congenital ventral body wall defect with increasing prevalence worldwide.
- The etiology and pathogenesis of gastroschisis remain largely unknown, posing a challenge for researchers and clinicians.
- Existing embryologic hypotheses do not fully explain the occurrence of gastroschisis.
Purpose of the Study:
- To propose an alternative hypothesis for the embryogenesis of gastroschisis.
- To provide a potential explanation for the observed increase in gastroschisis rates.
- To offer insights into the developmental origins of ventral wall defects.
Main Methods:
- Review and critique of existing embryologic hypotheses for gastroschisis.
- Proposal of a novel hypothesis based on established embryonic events.
- Analysis of potential implications for understanding ventral wall defects.
Main Results:
- Four primary embryologic hypotheses for gastroschisis were evaluated.
- A new hypothesis is presented: abnormal body wall folding leads to herniation of abdominal contents.
- This hypothesis may explain gastroschisis and other ventral wall developmental anomalies.
Conclusions:
- The proposed hypothesis offers a plausible mechanism for gastroschisis development.
- Understanding abnormal embryonic folding may elucidate the cause of this increasing birth defect.
- This framework could guide future research into the pathogenesis of ventral wall defects.
Abstract:
Gastroschisis, a ventral body wall defect, is a continuing challenge and concern to researchers, clinicians, and epidemiologists seeking to identify its cause(s) and pathogenesis. Concern has been renewed in recent years because, unlike most other birth defects, rates of gastroschisis are reportedly increasing in many developed and developing countries. No tenable explanation or specific causes have been identified for this trend. Rates of gastroschisis are particularly high among pregnancies of very young women. Such an intriguing association, not observed to this degree with other birth defects, may afford clues to the defect's cause. Understanding the causes of gastroschisis may provide insight to the defect's origin. In pursuing such causal studies, it would be helpful to understand the embryogenesis of gastroschisis. To date, four main embryologic hypotheses have been proposed: (1) Failure of mesoderm to form in the body wall; (2) Rupture of the amnion around the umbilical ring with subsequent herniation of bowel; (3) Abnormal involution of the right umbilical vein leading to weakening of the body wall and gut herniation; and (4) Disruption of the right vitelline (yolk sac) artery with subsequent body wall damage and gut herniation. Although based on embryological phenomena, these hypotheses do not provide an adequate explanation for how gastroschisis would occur. Therefore, we propose an alternative hypothesis, based on well described embryonic events. Specifically, we propose that abnormal folding of the body wall results in a ventral body wall defect through which the gut herniates, leading to the clinical presentation of gastroschisis. This hypothesis potentially explains the origin of gastroschisis as well as that of other developmental defects of the ventral wall.
