Omphalocele and gastroschisis in Europe: A survey of 3 million births 1980–1990

Abstract

A total of 732 cases of omphalocele and 274 cases of gastroschisis was registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980-1990. The total prevalence rates were 2.52 per 10,000 for omphalocele and 0.94 per 10,000 for gastroschisis. There was significant heterogeneity in total prevalence rates among regions for omphalocele. Consistently higher than average total prevalence rates of omphalocele were found in the five centers of the British Isles. This was in large part linked to the association between omphalocele and neural tube defects. A significant female excess among the cases of omphalocele associated with neural tube defects, in comparison with an insignificant male excess for other cases of omphalocele, was observed. Geographical differences in the total prevalence of gastroschisis are partly explained by differences in maternal age distributions in the populations surveyed. Omphalocele was an isolated malformation in 46% of cases; gastroschisis was isolated in 79% of cases. The average birthweight and gestational age of both isolated and multiply malformed cases of both omphalocele and gastroschisis were low, especially for multiply malformed cases, and to a greater extent for isolated gastroschisis than for isolated omphalocele. Prenatal diagnosis leading to termination of pregnancy was reported in 33.2% of omphalocele and in 26.5% of gastroschisis cases, demonstrating the considerable impact of current prenatal screening programs. On the basis of clinical manifestations, epidemiologic characteristics, and the presence and type of additional malformations, omphalocele and gastroschisis can be considered heterogeneous conditions.

The effects of imatinib on pregnancy outcome

“…Those with bony abnormalities are especially pertinent, as similar bony defects including exencephaly, encephaloceles, and deformities of the skull bones were observed in the rodent studies. The expected incidence of exomphalos in the general population is approximately 1 in 3000 to 4000 births, 4 and the finding of 3 infants out of 180 is far higher than would be predicted. It is of note that the infants with exomphalos all had a combination of very similar, quite complex defects which would be unlikely to occur by chance and make an imatinib-induced effect more probable.…”

“…2 Information on the expected background incidence of spontaneous abortions and congenital abnormalities was obtained from published reports. [3][4][5] …”

Recreational Drug Use: A Major Risk Factor for Gastroschisis?

“…Reported levels of gastroschisis cases with multiple anomalies vary from 6% to 25% (Morrow et al 1993); (Fisher et al 1996); (Yang et al 1992); (Calzolari et al 1995); (Torfs et al 1990); (Byron-Scott et al 1998); (Calzolari et al 1993); (Roberts and Burge, 1990). These anomalies range from secondary associations such as intestinal atresia and cryptorchidism to unrelated anomalies including skeletal anomalies, encephalocele and in rare cases aneuploidy or amniotic band sequence.…”

Omphalocele Major with Absent Lower Limb

“…The incidence of omphalocele is 17 per 100,000 [1]. The defect is covered by a sac consisting of the amnion, peritoneum and Wharton's jelly.…”