Encephalocele in the Czech Republic – incidence, prenatal diagnostics and international comparison

Czech version

Authors: A. Šípek- ^{1 4}; V. Gregor ^1,2; J. Klaschka ^5,6; M. Malý ^5,7; J. Jírová ⁸; N. Friedová ^1,9; A. Šípek jr. ^1,4,9
Authors‘ workplace: Oddělení lékařské genetiky, Thomayerova nemocnice, Praha ¹; Oddělení lékařské genetiky, Sanatorium Pronatal, Praha ²; Oddělení lékařské genetiky, Gennet, Praha ³; Ústav lékařské genetiky 3. LF UK, Praha ⁴; Ústav informatiky Akademie věd ČR, Praha ⁵; Ústav biofyziky a informatiky 1. LF UK, Praha ⁶; Státní zdravotní ústav, Praha ⁷; Ústav zdravotnických informací ČR, Praha ⁸; Ústav biologie a lékařské genetiky 1. LF UK a VFN v Praze ⁹
Published in: Cesk Slov Neurol N 2021; 84/117(1): 66-70
Category: Original Paper
doi: https://doi.org/10.48095/cccsnn202166

Overview

Aim: The aim of this study was to analyse the total incidence of an encephalocele and to evaluate the effectiveness of its prenatal diagnostics in the Czech Republic.

Methods: We used the official data from the National Registry of Congenital Anomalies kept within the Register of Reproductive Health in the Institute of Health Information and Statistics of the Czech Republic during the time period 1994–2015. The second source were data on prenatal diagnostics collected under the guidance of the Society of Medical Genetics and Genomics CMA JEP. In our work, we analysed the annual frequencies and their changes in both born children and prenatally-diagnosed cases. We also analysed weeks of pregnancy in prenatally-diagnosed cases.

Results: During the 1994–2015 time period, a total of 279 cases of encephalocele were diagnosed in the Czech Republic. Among those, 216 cases were prenatally diagnosed (and electively terminated) due to a serious developmental defect, while 63 cases were reported in newborns. In relative numbers (per 10,000 live births) the total incidence of encephalocele was 1.24 (0.96 in prenatally-diagnosed cases and 0.28 in births). During the selected time period, the frequency of prenatally-diagnosed cases increased significantly (P < 0.001), but after 2008 the growth stopped and the level remained roughly the same. The number of encephalocele in births decreased slightly, but they did not show a statistically significant trend (P = 0.585).

Conclusion: The effectiveness of prenatal diagnostics of encephalocele increased significantly during the selected time period. This trend can be observed especially till 2008; in the 2009–2015 time period, the changes were not significant anymore.

Keywords:

encephalocele – prenatal diagnostics – nervous system malformations – Czech Republic

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