New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology

Abstract

gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. To expand the frontier of knowledge about a malformation that has showed a growing global prevalence, we have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines.

Keywords: Gastroschisis; Hernia umbilical; Vitelline duct; abdominal abnormalities; ectopia cordis; genetic predisposition to disease.

Figure 1. Embryonic development during the third and fourth weeks. Cross-sections. A. Towards the end of the third week of development, the lateral plate of the mesoderm bifurcates into two leaves: one underlying the non-neural ectoderm and the other around the endoderm that lines the yolk sac. B. The space delimited by the two leaves derived from the lateral plate of the mesoderm gives rise to the intraembryonic coelom. At this time, beginning of the fourth week of development, it is possible to observe the two lateral body folds, each constituted by the somatic sheet of the lateral mesoderm and by non-neural ectoderm. C. The growth of the two lateral body folds and their displacement in a ventral direction causes them to approach the midline by the middle of the fourth week. D. At the end of the fourth week, the two folds fuse and form the ventrolateral body wall. As a result of the folding, the yolk sac enters the body cavity of the embryo and gives rise to the primitive intestine.

Figura 1. Desarrollo embrionario durante la tercera y la cuarta semanas. Secciones transversales. A. Hacia el final de la tercera semana de desarrollo, la placa lateral del mesodermo se bifurca en dos hojas: una, subyacente al ectodermo no neural y la otra, alrededor del endodermo que reviste al saco vitelino. B. El espacio delimitado por las dos hojas derivadas de la placa lateral del mesodermo da origen al celoma intraembrionario. En este momento, inicio de la cuarta semana de desarrollo, es posible observar los dos pliegues corporales laterales, cada uno de los cuales está constituido por la hoja somática del mesodermo lateral y por ectodermo no neural. C. El crecimiento de los dos pliegues corporales laterales y su desplazamiento en dirección ventral hacen que, a mediados de la cuarta semana, se aproximen hacia la línea media. D. Al final de la cuarta semana, los dos pliegues se fusionan y forman la pared corporal ventrolateral. Como resultado del plegamiento, el saco vitelino se introduce dentro de la cavidad corporal del embrión y da origen al intestino primitivo