Genetic heterogeneity in neural tube defects

J. L. Simpson, J. Mills, G. G. Rhoads, G. C. Cunningham, M. R. Conley, H. J. Hoffman

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23 Scopus citations


In 1985-1987, the authors attempted to ascertain all cases of confirmed neural tube defects (NTD) in California and Illinois, not only among liveborn infants (postnatal) but also cases ascertained during pregnancy (prenatal). Mothers of both prenatal and postnatal NTD cases were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had anomalies not ordinarily associated with NTD. The frequency of non-NTD related anomalies was 9.4% (5/53) in anencephaly, 0/3 in craniorachischisis, 22.9% (8/35) in encephalocele 14.5% (27/186) in spina bifida, 20% (1/5) in multiple NTD cases and 19% (4/21) in other NTDs. However, relatively few postnatal NTD cases had known multiple malformation patterns; Meckel-Gruber syndrome was the most common, with 2 postnatal cases, and 3 additional prenatal cases. Maternal age, paternal age and birth order in postnatal cases were 26.7 ± 5.4 SD, 28.9 ± 5.8 and 2.8 ± 1.8, respectively. These characteristics were similar in prenatal NTD cases (27.9 ± 6.0, 30.1 ± 6.3, 2.5 + 1.5, respectively). We also found no differences in parental ages among different types of NTD. Frequency of prior spontaneous abortion differed neither between postnatal NTD (9.3%) and postnatal controls (8.1%), nor hetween prenatal NTD (10.7%) and prenatal control (8.7%). Loss rates in the pregnancy immediately prior to the index NTD cases were not significantly higher than in control subjects. The high frequency of non-NTD associated malformations (14.9%) indicates the caution must be exercised before assuming that a given NTD case is polygenic-multifactorial in etiology, especially cases of encephalocele.

Original languageEnglish (US)
Pages (from-to)279-286
Number of pages8
JournalAnnales de Genetique
Issue number3-4
StatePublished - 1991
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics


  • associated anomalies
  • epidemiology
  • heterogeneity
  • neural tube defects


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