823 Epidemiological Characteristics of Down Syndrome in the Region of Western Herzegovina

Abstract

During the 15 years period (1994-2008), 46 children with Down syndrome (DS) (31 boys and 15 girls) have been registered at the Neonatology Department of the University Hospital Mostar (Bosnia and Herzegovina). The average prevelence of DS for the region of Western Herzegovina (WH) (217 944 inhabitants) is 1,5 per 1,000 newborns in that period. DS has been proved by means citogenetic analyses in 38 children. In 36 there was a regular type of trisomy 21 (94.7%) and in 2 the translocation type of DS was found. 33 parental couples (71.7%) were over 35 years of age. Early amniocentesis due to the parent's age was made in two cases only, with positive dignosis. Usually, parents are refusing prenatal diagnosis due to religous reasons. All children with DS have had five or more easily recognized minor malformations present in variable combinations. 28/46 had major malformations and three children have had mild forms of conatal hypothyreosis. Seven children (15.2%) died in neonatal or early infant period due to sepsis and complex cardiovascular anomalies. Considering evidently present major malformations and accompaning complications, DS remains very important issue for routine pediatric clinical practice.