Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity

Genet Test. 1999;3(3):265-72. doi: 10.1089/109065799316572.


This study presents race/ethnicity-specific prevalence estimates of neural tube defects (NTDs) in California using 5 years of population-based data. NTD prevalence estimates include prenatally diagnosed cases, as well as cases diagnosed at birth. The California NTD Registry contains NTD case reports identified through the California Maternal Serum Alpha-Feto Protein (AFP) Screening Program, the California Birth Defects Monitoring Program, and additional reports from clinicians and clinics throughout the state. These data were used to estimate NTD prevalence in a large population-based study (n = 1,618,279). The overall NTD prevalence among White, Black, Hispanic, and Asian women are reported, as well as race/ethnic prevalence, for anencephaly, spina bifida, and encephalocele. Rates are expressed as the number of cases per 1,000 women screened between 1990 and 1994. Among 1,457 women with an NTD-affected pregnancy, the overall rate for anencephaly, spina bifida, and encephalocele was 0.49 (95% CI 0.46-0.53), 0.42 (95% CI 0.38-0.45), and 0.08 (95% CI 0.07-0.09), respectively. When these types of NTDs are combined, Hispanic women had the highest overall rate (1.12, 95% CI 1.04-1.21), followed by Whites (0.96, 95% CI 0.89-1.04), Blacks (0.75, 95% CI 0.59-0.91), and Asians (0.75, 95% CI 0.60-0.90). Hispanic women were 45% more likely than White women to have a pregnancy affected with anencephaly (odds ratio = 1.45, 95% CI 1.24-1.70), while Asian women were over two times less likely to have a pregnancy affected with spina bifida (odds ratio = 0.44, 95% CI 0.29-0.65). Considerable variation exists in the prevalence of NTDs by race/ethnicity and by type of NTD, with Hispanic women exhibiting the highest overall NTD rate.

MeSH terms

  • Anencephaly / epidemiology
  • Anencephaly / ethnology
  • California / epidemiology
  • Encephalocele / epidemiology
  • Encephalocele / ethnology
  • Ethnicity*
  • Female
  • Genetic Testing
  • Humans
  • Logistic Models
  • Male
  • Neural Tube Defects / epidemiology*
  • Neural Tube Defects / ethnology
  • Odds Ratio
  • Pregnancy
  • Prevalence
  • Racial Groups*
  • Registries*
  • Spinal Dysraphism / epidemiology
  • Spinal Dysraphism / ethnology