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Keywords:

  • birth defect;
  • epidemiology;
  • genetic;
  • myelomeningocele;
  • neural tube;
  • spina bifida

Abstract

BACKGROUND:

Myelomeningocele is a common serious malformation. In the majority of affected individuals, it is believed to be nonsyndromic and determined by the effects of multiple genetic and nongenetic factors.

METHODS:

The Spina Bifida Research Resource (SBRR) is an ongoing, family-based study, designed to identify maternal and embryonic genes related to myelomeningocele. Families that include at least one individual with myelomeningocele are eligible to participate in the SBRR. Recruitment into the SBRR has occurred in two phases. Descriptive analyses were undertaken to characterize the case individuals enrolled in Phase 1. In addition, the characteristics of subgroups of case individuals, defined by lesion level, were compared.

RESULTS:

During Phase 1, 671 families including 683 case individuals were enrolled. Families in which the case individual(s) were known or suspected to have a recognized pattern of malformations and families that did not complete the study interview were excluded from the present analyses. The case individuals in the remaining families (n = 534) were predominantly female (53%) and non-Hispanic Caucasian (87%), and in the majority (74%) the highest level of the lesion was in the lumbar region. Differences in the characteristics of the case individuals with lumbar and thoracic level lesions were detected.

CONCLUSIONS:

This article provides details regarding study design, recruitment, and data collection, and the characteristics of the SBRR Phase 1 study population. The data available from the SBRR, in combination with a rapidly evolving understanding of the variation within the human genome, provide an unprecedented opportunity to explore the genetic contribution to myelomeningocele. Birth Defects Research (Part A) 2008. © 2008 Wiley-Liss, Inc.