Work

Embryologic and Developmental Origins of Gastroschisis: A Scoping Review of Historical and Contemporary Theories

Year: 2026

Type: article

Abstract: BACKGROUND/OBJECTIVES: Gastroschisis remains one of the most debated congenital abdominal wall defects with respect to its embryologic and developmental origins. Despite decades of investigation, no consensus exists regarding a single causative mechanism, and competing hypotheses variably explain laterality, bowel injury, and closing variants. This scoping review aims to synthesize historical and contemporary embryologic theories of gastroschisis and integrate them into a coherent developmental framework with direct relevance to prenatal assessment and clinical interpretation. METHODS: A structured literature search was conducted in PubMed, Web of Science, and Scopus from inception through December 2025. Studies proposing original embryologic mechanisms or providing primary experimental, placental, or developmental evidence were included. Eligible publications were qualitatively synthesized and classified according to evidence strength as historical descriptive, experimental, placental pathology, or integrative synthesis. Embryologic theories were organized into mechanistic categories based on affected structures, developmental timing, and proposed pathophysiology. RESULTS: Twenty-six publications met inclusion criteria, yielding fourteen distinct embryologic theories. These were categorized into four mechanistic categories: mesodermal and ventral body wall folding abnormalities, vascular disruption models, umbilical ring and extraembryonic attachment defects, and integrated multifactorial developmental concepts. No single mechanistic category alone consistently accounted for right-sided predominance, variability in bowel injury, and the occurrence of closing variants. CONCLUSIONS: Gastroschisis is best understood as a spectrum of periumbilical developmental disturbances arising from interacting mesodermal, vascular, and biomechanical factors. An integrated embryologic framework improves interpretation of dynamic prenatal imaging findings, supports refined risk stratification and counseling, and provides a biologic foundation for future translational research.

Source: Children

DOI: 10.3390/children13020270

Authors: Mohamad Abi Nassif, Emrah Aydin, Jose Peiro

Institutions: Cincinnati Children's Hospital Medical Center, University of Miami, NYU Langone Health, New York University

Language: English

Topic: Congenital Anomalies and Fetal Surgery

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,896