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The presence of body wall defects with "evisceration" of thoracic and/or abdominal organs associated with other congenital anomalies, with or without limb deficiencies, is considered to be the body wall complex (BWC). The BWC is different from gastroschisis, which is usually a small body wall defect lateral to the umbilical cord that is not covered by any membrane and, in most of the cases, is an isolated defect. For the present analysis we separated the BWC group into three subgroups. One group was that of body stalk anomalies characterized by severe defects of the abdominal wall with absence of, or very small, umbilical cord, or this is continuing with the placenta. The second group was made up of those infants with body wall defects without amniotic bands, and the third group was of those children with body wall defects produced by amniotic bands. We considered two additional groups in the analysis, one was of infants with gastroschisis and the other those infants with amniotic bands without body wall affectation. We also included the control group (nonmalformed infants) for comparisons. From the results of our epidemiological study, we can conclude that amniotic bands with body wall affectation and amniotic bands without body wall defects are two different entities. The results also suggest that the characteristics of infants with amniotic bands with body wall defects are more similar to the group of infants with body stalk anomalies. This may indicate that the former group is produced during the very early gestation., (Copyright 2000 Wiley-Liss, Inc.)

The spectrum of defects in cases with limb body wall complex (LBWC) is quite variable since other anomalies are also observed in infants with LBWC, and some cases do not have limb deficiencies. Van Allen et al. [Am J Med Genet 1987;28:529-548] proposed that the diagnosis of LBWC (presence of body wall defects with evisceration of thoracic and/or abdominal organs, limb deficiency, and myelocystocele) should be based on the presence of two of three of the following anomalies: exencephaly or encephalocele with facial clefts, thoraco and/or abdominoschisis, and limb defects. This approach implies that an infant with encephalocele with facial clefts and limb defects may be considered as having LBWC, which I do not think is correct. I present the results of a clinical and epidemiological analysis aimed at identifying if, from an epidemiological perspective, it is possible to identify an entity which is characterized by the presence of abdominal wall defects along with other malformations including or not limb deficiencies. The result of this analysis allows us to consider that this entity should be characterized by the presence of abdominal wall defects with a variable spectrum of anomalies (with or without limb deficiencies) and, consequently, be called body wall complex (BWC). BWC includes cases regardless of their clinical pattern and the possible etiology or pathogenetic mechanism. Thus, the BWC entity does not include amniotic band sequence without body wall defects, but does include amniotic band sequence with body wall defects.

In 1965, Torpin [1965; Am J Obstet Gynecol 91:65-75] concluded that fetal constrictions and amputations were related to amniotic membrane rupture. Since then, this view was accepted widely, although different terms were used due to the variation in the types of associated anomalies. I consider that for those cases without body wall defects, the most appropriate term is amniotic band sequence (ABS), since amnion rupture could initiate a cascade of abnormalities (consequences) leading to the final structural defects. Here I present a clinical and epidemiological analysis of a series of consecutive infants with ABS, comparing their characteristics with those of infants with body wall complex (BWC). The results of this analysis suggest that ABS, from an epidemiological standpoint, is an entity different from BWC, and that amniotic bands in cases of BWC may be considered different from amniotic bands in cases without body wall defects. The former are probably produced earlier in the development than the latter.

Gastroschisis, which is a defect in the abdominal wall, lateral to the umbilical cord, is considered to be a vascular problem, probably due to a disruption of the omphalomesenteric artery [Hoyme et al. (1981) J. Pediatr. 98:228-231]. Recently, Torfs et al. [(1996) Teratology 54:84-92] observed a significantly increased risk for aspirin and ibuprofen, two strong cyclooxygenase inhibitors. Here we present the results of a case-control study conducted by the Spanish Collaborative Study of Congenital Malformations (ECEMC) on the relationship between prenatal exposure to salicylates during the first trimester of pregnancy and gastroschisis. The results show an increased risk (OR = 3.47; P = 0.015) after controlling the possible effect of maternal age and maternal smoking during pregnancy.

We report an epidemiological study of gastroschisis and omphalocele performed through the Spanish Collaborative Study of Congenital Malformations. Among 264,502 live births analyzed from April 1976 to September 1981, 12 gastroschisis and 40 omphaloceles were identified. The overall incidence of gastroschisis was 0.4 per 10,000 live births and 1.5 for omphalocele. The incidence of gastroschisis showed a significant secular trend with a mean annual increase of 0.38 per 10,000 livebirths. The mean maternal age was 21.42, which is significantly lower than the control group (p less than 0.01). Among isolated omphaloceles the maternal ages showed a U-shape distribution. Maternal vaginal bleeding, gestational age, and birth weight were significantly different between gastroschisis and omphaloceles and the controls. Mortality within the first 3 days of life was significantly higher in gastroschisis, syndromic omphaloceles, and those associated with other malformations when compared to controls. No significant consanguinity or familial cases were observed for either gastroschisis or omphaloceles.