Friedova Natalie, Sipek Antonin, Klaschka Jan, Maly Marek, Calda Pavel, Liska Frantisek, Sipek Antonin
Charles University, First Faculty of Medicine and General University Hospital, Institute of Biology and Medical Genetics, Prague, Czech Republic.
Thomayer University Hospital, Department of Medical Genetics, Prague, Czech Republic.
J Appl Biomed. 2025 Jun;23(2):91-95. doi: 10.32725/jab.2025.009. Epub 2025 Jun 20.
Congenital microcephaly is a diverse group of congenital anomalies characterized by a significantly reduced head circumference at birth. The incidence varies widely across regions. This study focuses on the incidence of microcephaly in the Czech Republic.
A retrospective analysis was conducted using data from the National Registry of Congenital Anomalies of the Czech Republic. All cases coded as microcephaly (Q02 code in the 10th revision of the International Classification of Diseases) between 2000 and 2020 were included.
A total of 274 cases of congenital microcephaly were identified, with an incidence rate of 1.22 per 10,000 births. The sex ratio was significantly skewed toward females (0.63:0.37). Microcephaly was significantly more frequent among mothers aged less than 25 years (1.68 per 10,000) and over 35 years (1.51 per 10,000), compared to those aged 25-34 years (1.03 per 10,000).
This research provides the most detailed population-based estimate of congenital microcephaly in the Czech Republic. The study reports a lower relative incidence compared to many other countries. The findings highlight significant associations with maternal age and a notable female predominance, warranting further investigation into genetic and biological mechanisms.
先天性小头畸形是一组多样的先天性异常，其特征为出生时头围显著减小。不同地区的发病率差异很大。本研究聚焦于捷克共和国小头畸形的发病率。
利用捷克共和国先天性异常国家登记处的数据进行回顾性分析。纳入2000年至2020年间所有编码为小头畸形（国际疾病分类第10版中的Q02编码）的病例。
共识别出274例先天性小头畸形病例，发病率为每10000例出生中有1.22例。性别比显著偏向女性（0.63:0.37）。与25至34岁的母亲（每10000例中有1.03例）相比，小头畸形在年龄小于25岁（每10000例中有1.68例）和35岁以上（每10000例中有1.51例）的母亲中更为常见。
本研究提供了捷克共和国基于人群的先天性小头畸形最详细的估计。该研究报告的相对发病率低于许多其他国家。研究结果突出了与母亲年龄的显著关联以及明显的女性优势，有必要进一步研究遗传和生物学机制。
