Epidemiological characteristics of children born with Down syndrome in western Herzegovina in the period of the last twenty years (1994-2013).

BACKGROUND Children with Down syndrome (DS) are an everyday casuistry of pediatric clinical medicine. The prevalence of DS is dependent on socio-demographic and cultural conditions of a community. Antenatal screening is not carried out mainly due to religious views, and the prevalence of DS in our region is really considered a "natural phenomenon". The aim of the study was to analyze some epidemiological characteristics of infants with Down syndrome in the western region of Herzegovina in the period between year 1994-2013. SUBJECTS AND METHODS We performed a retrospective analysis of hospital records of children who were supervised and treated at Children's Hospital through the twenty-year period. RESULTS In this period there were 44,100 liveborn infants. Down syndrome was detected in 78 children (54 male and 24 female). The prevalence is estimated at 1.8/1,000 of live births. Aborted fetuses and stillbirths were not analyzed. 37 (47%) of the parent couples were over 35 years of age. Out of that 65 cytogenetic analysis, a regular type of trisomy 21 was found in 94% of cases, and the translocation in 6%. From major malformations (MM) heart failure was more often present (47%), then the anomaly of the gastrointestinal and genitourinary systems. Ten children (12%) died, most often in the early period of infancy due to complications of the cardiovascular system. CONCLUSION The prevalence of DS throughout these two decades has been uniform in the region of western Herzegovina. Improvement in perinatal care in recent years caused higher survival and a better quality of life for the children with DS and thus their families. DS is less a desirable family tragedy, and increasingly a tolerable family fate.