Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group

Am J Med Genet. 1995 Aug 28;58(2):187-94. doi: 10.1002/ajmg.1320580218.

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.

MeSH terms

  • Abdominal Muscles / abnormalities*
  • Birth Weight
  • Congenital Abnormalities / epidemiology*
  • Europe / epidemiology
  • Female
  • Gestational Age
  • Hernia, Umbilical / epidemiology*
  • Humans
  • Limb Deformities, Congenital
  • Male
  • Maternal Age
  • Neural Tube Defects / epidemiology
  • Pregnancy
  • Prenatal Diagnosis / statistics & numerical data
  • Prevalence
  • Sex Distribution