ISSN 2415-3060 (print), ISSN 2522-4972 (online)
  • 36 of 59
JMBS 2016, 1(1): 174–177

Regional Aspects of the Prevalence and Structure of Genetically Determined Congenital Abnormalities

Lanovenko Е.G., Doroshenko V.

In the article on the basis of official statistics assessed the magnitude of the genetic load of the Kherson population due to a congenital chromosomal abnormality. Poor health and reproduction of the population, leads to a reduction of population in Ukraine is linked with the negative of the genetic processes in the Ukrainian populations. Important informative characteristics, reflecting the integral concerning the condition of and direction of the flow of genetic processes in a population is the amount and structure of genetic load, in particular, its important component - chromosomal pathology. According to official statistics of the Ministry of health of Ukraine, the frequency of registered congenital malformation among newborns in Ukraine was 22,76 ± 0,07 ‰ (2,276± 0,007%). Among them, the proportion of genetically caused congenital amounted to 52.2%, and their prevalence in Ukraine during the years of the study did not suffer significant changes and amounted to an average of 0.99 ± 0,014‰. Children-carriers of chromosomal pathology, live births, and were more often diagnosed with down syndrome (average frequency 0,86‰), in second place in prevalence of trisomy 18 (Edwards syndrome) with a frequency of 0.027‰, the third – Turner syndrome (of 0.021‰), the fourth – trisomy 13 (patau syndrome) with a frequency 0,016‰ . And one of nosology, which refers to the ”model” malformations, over the years there was observed the tendency to reduce their frequency. With the decline of the permanent population of the Kherson region and the decrease of birth rate growth population frequency of congenital malformations in the cohort of newborns (from 24.2‰ in 2000 to a total of 35.1‰ in 2011). With the prevalence of the “model” shortcomings during this period has not changed significantly (the average frequency of 5.9 ± 0,02‰), indicating a maintain in the population a certain level of mutational process. The increase in the prevalence of malformations observed in the districts of the region (from 22.7‰ to 29.9‰) and in the regional centre (of 23.2‰ to 46.1‰). In Kherson region there has been a gradual increase in the population frequency of genetic defects among newborns (χ2 = 30,1). Comparative analysis of frequency of their occurrence over four-year periods over the years, studies have found a statistically significant increase of this indicator with 1,085‰ to 1.37‰ with maximum in 2006-2009 (a 1.54 ‰). This increase in prevalence in populations due to hereditary malformations occurred due to the increase in the frequency of down syndrome (from 0.83 to 1.04‰) with a maximum also in 2006-2009 (1,375‰) and patau syndrome (from 0.025‰ 0.04‰) with the highest rate in 2006-2009 - 0,105 ‰. The frequency of genetically determined congenital malformations of the newborns was significantly higher (1,33±0,018‰) average in Ukraine (0,99 ± 0,014‰). The leading place in the structure is the Down syndrome (population-based frequency of 1,08 ± 0,095‰; in Ukraine – 0,86‰), the second - Patau syndrome (0,057 ± 0,018‰; in Ukraine – 0,016‰), Edwards syndrome (0,028 ± 0,01‰) and Turner syndrome (0,020± 0,01‰). Moreover, the frequency of the last two chromosomal anomalies among newborns does not differ significantly from similar indices in Ukraine (respectively 0,027 ± 0,002‰ and 0,021 ± 0,003‰). General population prevalence of genetic abnormalities in infants was significantly higher than that in the regional center (3,7‰) than in districts (2,34‰). In rural populations of the region in the past five years there has been a statistically significant increase in the frequency of chromosomal pathology (from 1.09 to 1.95‰), whereas in the regional center is the opposite process – a gradual decline, which requires further monitoring studies. In the future further research should focus on identifying the causes a statistically significant increase in the prevalence of genetically determined pathology of newborns in the Kherson region in comparison with the average in Ukraine, in particular, births of children with down syndrome, and identifying causes of increased frequency of chromosomal pathology of newborns in the rural populations of the region.

Keywords: population, inherited disease, chromosomal disease, medical and genetic monitoring

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