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Updated: May 9, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Potential of general practice data for congenital anomaly research: Comparison with registry data in the United
Rachel Sokal1, Kate M Fleming, Laila J Tata
1Division of Epidemiology and Public Health, University of Nottingham, Nottingham, United Kingdom. mcxrs7@nottingham.ac.uk
Insights
The Health Improvement Network (THIN) database shows congenital anomaly (CA) prevalence similar to registries like EUROCAT for early diagnoses. Including later diagnoses improves CA detection in primary care data.
Area of Science:
- Epidemiology
- Public Health
- Medical Informatics
Background:
- General practice databases offer large, prospectively collected medical information for studying congenital anomalies (CAs).
- Validation of these data against established CA registries is crucial for their reliable use.
Purpose of the Study:
- To validate the utility of The Health Improvement Network (THIN) primary care database for studying congenital anomalies (CAs).
- To compare CA prevalence data from THIN with established European Surveillance of Congenital Anomalies (EUROCAT) registries.
Main Methods:
- Utilized data from 794,209 children in the THIN database born between 1990-2009.
- Compared birth prevalence of major and system-specific CAs in THIN with EUROCAT UK registries.
Main Results:
- THIN showed a birth prevalence of major CAs (diagnosed before 1 year) of 198/10,000, slightly higher than EUROCAT's 167/10,000.
- Small absolute prevalence differences were observed across 16 system-specific anomaly groups.
- Including diagnoses made after 1 year of age increased THIN's overall major CA prevalence to 277/10,000.
Conclusions:
- THIN data are consistent with EUROCAT for early congenital anomaly diagnoses, confirming THIN as a valuable data source.
- The age of diagnosis significantly impacts overall CA prevalence figures in primary care databases.
- Incorporating diagnoses made after the first year of life enhances the capture of congenital anomalies in population-based studies.
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.
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