Abstrakt

Objective and type of study: Retrospective epidemiological analysis of the survival of children born with Down syndrome, Edwards syndrome, and Patau syndrome in the Czech Republic (CR) during the 1994 – 2015 time period. 

Material and Methods: We used the data (for years 1994-2015) from the National Registry of Congenital Anomalies which is a part of the National Registry of Reproductive Health run by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR). In our study, we have analyzed the incidences and survival rates of children born with the three most common syndromes caused by autosomal aneuploidies. We analyzed the cases of Down syndrome – DS (Q90), Edwards syndrome - ES (Q91.0 - Q91.3), and Patau syndrome - PS (Q91.4 - Q91.7).
For the analyses, a database individual of cases was provided by IHIS CR. Time trends were tested by the exact Poisson regression and for the comparison of different cohorts, Fisher’s exact test was used.  

Results: During the 1994-2015 time period we have diagnosed 1162 cases (9 of them in stillbirths) of DS in the Czech Republic. During the same time period, we diagnosed also 138 cases of ES (9 of them in stillbirths) and 65 cases of PS (2 in stillbirths). 
For the DS, we have found a statistically significant decrease in early neonatal mortality (p = 0.027) and a statistically significant decrease in infant mortality rate (p < 0.001). In ES and PS the changes in mortality rates were not statistically significant. The mortality rates till the 12th month of age were 9.2% for DS, 84.5% for ES, and 87.3% for PS. In 46.4% of DS cases, a congenital heart defect was also present and in 8.3% of DS cases, we identified a congenital heart defect associated with another structural congenital anomaly. A congenital heart defect was also found in 20.2% of ES children and 4.8% of PS children. 
Congenital heart defect in association with another structural congenital anomaly was found in 40.3% ES children and 38.1% of PS children. 

Conclusion: In our study, we have found a statically significant decrease in early neonatal and infant mortality rates in DS children. The changes in mortality rates in ES and PS children were not statistically significant. Mortality rates found in our study do not differ from mortality rates calculated in other studies.