Paediatria Croatica, Vol. 65 No. 2, 2021.
Original scientific paper
https://doi.org/10.13112/PC.2021.11
Epidemiological, cytogenetic and clinical characteristics of children with Down syndrome in eastern Croatia – fifteen-year postnatal experience
Višnja Tomac
orcid.org/0000-0002-1126-7523
Silvija Pušeljić
Martina Kos
Sanja Dorner
Romana Pavišić Kezan
Jasenka Wagner
orcid.org/0000-0002-1126-7523
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
Keywords
DOWN SYNDROME; HEART DEFECTS, CONGENITAL; CYTOGENETICS; PRENATAL DIAGNOSIS; MATERNAL AGE
Hrčak ID:
260301
URI
Publication date:
9.7.2021.
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