Trisomy 21

Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey

I. Acikbas, Tomatir, A. G., Akdag, B., and Köksal, A., “Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey”, vol. 11, pp. 4640-4645, 2012.

Down syndrome (DS) is the most frequent chromosome abnormality among live births. Its prevalence increases with maternal age, and can be diagnosed by antenatal screening. We examined prevalence variations of DS in Denizli, Turkey, through a retrospective study. Sixteen years of survey data were retrieved from the two main state hospital registries from records between 1994 and 2010. We identified 113 DS live births in Denizli for 16 years. The prevalence of DS was 9.07 per 10,000 live births before the year 2000 and 9.90 after 2000. The prevalence did not change significantly.

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

J. M. Biselli, Goloni-Bertollo, E. M., Zampieri, B. L., Haddad, R., Eberlin, M. N., and Pavarino-Bertelli, E. C., “Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil”, vol. 7, pp. 33-42, 2008.

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who had no children with DS were evaluated.

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