Are omphalocele and neural tube defects related congenital anomalies? Data from 21 registries in europe (EUROCAT)

E. Calzolari, F. Bianchi, H. Dolk, D. Stone, M. Milan, M. Lechat, P. Leurquin, S. Goyens, G. Astolfi, S. Volpato, S. Aymé, A. Calabro, M. Clementi, R. Tenconi, M. Cornel, A. Cuschieri, S. Garcia-Minaur, E. Garne, Y. Gillerot, J. GoujardD. Hansen-Koening, M. Roulleaux, P. J. Howard, Z. Johnson, D. F. Lillis, N. C. Nevin, V. Nelen, T. Pexieder, A. Pierini, C. Stoll, I. Svel

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We have analyzed the association between omphalocele and neural tube defects (O/NTD) previously reported in epidemiological studies of EUROCAT registry data [Dolk et al., 1991; Calzolari et al., 1995]. By examining differences in prevalence between the United Kingdom and Ireland (UKI) and Continental Europe and Malta (CEM) and differences in sex ratio, the possible etiopathogenetic differences between O/NTD association and omphalocele without NTD and NTD without omphalocele were investigated. The distribution of O/NTD cases according to NTD site in the two geographic areas shows in the UKI a tendency for omphalocele to associate with anencephaly/spina bifida and with anencephaly. In CEM centers, these types of NTD are much rarer. The pattern of other anomalies occurring in combination with O/NTD association in the same babies was also analysed.

Original languageEnglish
Pages (from-to)79-84
Number of pages6
JournalAmerican journal of medical genetics
Issue number1
Publication statusPublished - 3 Oct 1997
Externally publishedYes


  • Congenital anomalies
  • Etiology
  • NTD
  • Omphalocele

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