Objective: Analysis of the incidence of birth defects in perinatal period in the Czech Republic in the period of 1994 – 2005. Mapping the proportion of individual birth defects participating in still birth, early neonatal and perinatal mortality in the Czech Republic over 12-year period were studied. Type of study: Retrospective epidemiological analysis of birth defects incidence from the Database of the National Registry of Inborn Defects in the Czech Republic and their share in perinatal mortality. Material and methods: The contribution used the data of the all-state registration of birth defects followed in the Institute of Public Health Information and Statistics of the Czech Republic in the period of 1994 – 2005. The authors analyzed the incidence of birth defects detected in the Czech Republic and the proportion of birth defects in the perinatal period. In addition to the analysis of birth defects as a whole the authors also analyzed the proportion of individual groups of birth defects. They quantified the incidence of individual diagnoses in perinatal mortality. Results: In the period of 1994 – 2005 our retrospective analysis detected on the whole 38,547 born children with birth defect and 22,450 of them were boys and 16,084 affected girls. The ration of sex M/F was 1.40 and the percentage of the affected boys are 58.24. There were 53,143 registered birth defects in born children and 30,560 of them were boys and 22,530 were girls, while sex was not identified in 44 cases. The mean incidence of birth defects in born children was 340.90/10,000 live born children. Conclusion: The contribution presents up-to-date results of the incidence of birth defects and their share in perinatal mortality in the Czech Republic. Due to successful prenatal diagnostics of severe and letal birth defects their share in perinatal mortality has been decreasing, especially in the stillbirth cases, less in early neonatal mortality. However, birth defects of the central nervous system, heart defects, birth defects of uropoetic tract and chromosomal aberrations still represent significant proportion of perinatal mortality.

        Klíčová slova: birth defect, perinatal mortality, stillbirth, early neonatal mortality, prenatal diagnostics, incidence, Czech Republic