Abstract

We report genetic counseling and prenatal diagnostics in the Obstetrics and Gynecology Department of the Clinical Center Brcko District (BiH) which works for more than 4 years in prevention of giving birth to children with hereditary diseases and congenital malformations. Pregnant women from Brcko District, Tuzla Canton and wider area of BiH underwent genetic counseling. In the period from 2003 to 2007, 1234 pregnant woman underwent amniocentesis and genetic counseling. Among them 27 foetuses with chromosome disorders were discovered (2.19%). There were 9 (0.72%) cases of autosomal numerical aberrations, 9 (0.72%) of numerical anomalies of sex chromosomes and 12 (1.07%) of structural chromosome aberrations. Chordocentesis was performed in 86 pregnant women: 7 foetuses were found carrying chromosome aberrations (8.14%). Frequency of chromosomes in comparison to the Centre of Medicine Genetics in the Children Clinic in Novi Sad (Serbia) indicates that it is significantly higher (1.67% compared to 2,19%), and in both cases the populations are significantly large (12210:1234) - there is a large difference in structural chromosomal aberrations (0.39% - 1.07%). This could point to harmful factors of the environment which contribute to induced genome damages. Frequency of chromosomopathies found by prenatal diagnostics is high. The causes for this have to be looked for, but the increase of structural anomalies points to environmental factors.

Key words: genetic consulting, prenatal diagnostic, screening Down syndrome, Brcko District BiH.