ESPE Abstracts

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.

Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 2006 and December 2015. During this period, the total number of registered DS cases and the number of new registrations each year were identified. To estimate the prevalence of DS, the size of the Korean population in 2015 was ascertained from resident registration data with respect to population data gathered by the Korean Ministry of Security and Public.

Results: The prevalence of Down syndrome (per 100,000 was 2.0322 in 2006, 2.2262 in 2007, 2.6332 in 2008, 3.0711 in 2009, 2.7468 in 2010, 2.8962 in 2011, 3.0376 in 2012, 3.2481 in 2013, 3.8844 in 2014, 4.0272 in 2015. In 2015, the number of DS patients was 2,077 out of the total population of 51,574,044 South Koreans. The death rates (per 1,000) of DS were 5.996 in teenagers, 7.602 in twenties, 7.472 in thirties, 54.7 in forties, 115.18 in more than fifties. The incidence rates (per 1,000) of DS combined congenital heart diseases were higher than control group (ASD, 21.50 vs. 0.27; VSD, 9.65 vs. 0.20; PDA, 8.97 vs. 0.07).

Conclusions: DS, trisomy 21 is the most common birth defects and are more likely to accompany cardiac complications such as ASD, VSD, and PDA.