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

Q4 Medicine

Paediatria Croatica Pub Date : 2021-06-25 DOI:10.13112/pc.2021.11

V. Tomac, S. Puseljic, Martina Kos, S. Dorner, Romana Pavišić Kezan, J. Wagner

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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.

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克罗地亚东部唐氏综合征儿童的流行病学、细胞遗传学和临床特征——15年产后经验

本研究对101例出生后检测到的唐氏综合症病例进行了回顾性数据分析，这些病例是在一个三级中心进行的15年（2005-2020年）的1879项产后调查中常规诊断的。所有具有唐氏综合症特征的患者都在奥西耶克大学医院中心的儿科接受了检查。在奥西耶克医学院医学遗传学实验室进行了核型分析。在101名唐氏综合症患者中，55%为男性，45%为女性。唐氏综合征患者中，最常见的染色体组型为21三体，占95%，罗伯逊易位占4%，镶嵌型占1%。这些母亲的平均年龄为33岁。38例（42.7%）患者存在先天性心脏缺陷。克罗地亚东部活产唐氏综合症的患病率在15年期间没有显著下降。产前诊断的使用率很低，因此应该评估女性以及医生对唐氏综合症产前诊断的知识和态度。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Paediatria Croatica 医学-小儿科

CiteScore

0.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： In the inaugural 1956 issue of the journal, the editor Dr Feđa Fischer Sartorius outlined the journal''s vision and objectives saying that the journal will publish original papers on the development, pathology, and health care of children from the prenatal period to their final biological, emotional and social maturity. The journal continues this vision by publishing original research articles, clinical and laboratory observations, case reports and reviews of medical progress in pediatrics and child health.