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Keywords:

  • congenital anomalies;
  • epidemiology;
  • EUROCAT;
  • prevalence;
  • primary care data

BACKGROUND

General practice data provide large population-based cohorts of individuals with prospectively collected medical information with promising potential for studying the causes and consequences of congenital anomalies (CAs). We sought to validate these data through comparison with CA registries.

METHODS

Our study population was 794,209 children in The Health Improvement Network (THIN) primary care database, born between 1990 and 2009 with a median follow-up of 6.7 years. We compared the birth prevalence of any major and system-specific CAs with the European Surveillance of Congenital Anomalies (EUROCAT) United Kingdom registries.

RESULTS

The birth prevalence of any major CA for children in THIN diagnosed before 1 year of age was 198 per 10,000 (95% confidence interval, 195–201), which was slightly higher than the EUROCAT prevalence of 167 per 10,000 (relative risk, 1.18; 95% confidence interval, 1.16–1.20). Absolute differences in prevalence between THIN and EUROCAT were small across 16 system-specific anomaly groups. The majority of children in THIN with major CAs had recorded diagnoses before 1 year of age (72%), but including children diagnosed at any age increased the overall prevalence to 277 per 10,000 births.

CONCLUSION

The prevalence of CAs in THIN was consistent with EUROCAT for early diagnoses, demonstrating THIN to be a valuable source of data in which to investigate CAs. Age of diagnosis is an important factor in explaining a higher overall prevalence in THIN; the inclusion of diagnoses made after 1 year of age substantially improves capture of diagnoses. Birth Defects Research (Part A) 97:546-553, 2013. © 2013 Wiley Periodicals, Inc.