Congenital malformations of the central nervous system in the Czech Republic

Introduction: Congenital developmental defects are defined as deviations from normal prenatal development of an individual that exceed the typical variability within the given population and are (at least to some extent) pathological for the affected individual. In the Czech Republic, congenital developmental defects occur in 3-5 % of newborns. The most common defects are those of the circulatory system (39.6 %), followed by defects of the skeletal and muscular systems (18.9 %). Congenital developmental defects of the nervous system, with a frequency of 2.1 %, represent a relatively less common but clinically very significant group of congenital developmental defects. Methodology: The aim of the study was an extensive retrospective epidemiological analysis of data on the occurrence of congenital defects of the central nervous system (CNS) in the Czech Republic. The data were obtained by a broader team from the National Register of Congenital Defects, maintained by the Institute of Health Information and Statistics of the Czech Republic. Data on prenatally diagnosed cases were obtained from active reporting, collected under the auspices of the Czech Society of Medical Genetics and Genomics of the Czech Medical Association of J.E. Purkyně. The study evaluated the basic incidence of individual...