Epidemiological, cytogenetic and clinical characteristics of children with Down syndrome in eastern Croatia – fifteen-year postnatal experience

Abstract

This study presents a retrospective data analysis of 101 postnatally detected cases of Down syndrome, routinely diagnosed among 1879 postnatal investigations performed during a 15-year period (2005-2020) at a single tertiary centre. All patients with features of Down syndrome were examined at the Department of Paediatrics, Osijek University Hospital Centre. Karyotyping was performed at the Laboratory of Medical Genetics, Faculty of Medicine in Osijek. Among 101 Down syndrome patients, 55% patients were male and 45% were female patients. Trisomy 21 as the most common karyotype was found in 95%, Robertsonian translocation in 4% and mosaic form in 1% of Down syndrome patients. The average age of the mothers was 33 years. Congenital heart defects were present in 38/89 (42.7%) patients. There was no marked decrease in the prevalence of live birth Down syndrome in eastern Croatia over the 15-year period. The usage of prenatal diagnosis was low, so women’s, as well as physicians’ knowledge and attitudes towards the prenatal diagnosis of Down syndrome should be evaluated.