Differentiation of urban and rural populations of Kherson region on the frequency of congenital malformations and reproductive losses

Abstract

The problem of differential prevalence of congenital malformation and reproductive losses in Ukrainian populations becomes especially relevant in the context of increasing the impact of environmental and genetic and demographic factors that can influence their gene pool. The purpose of the study is to determine, during long-term monitoring, the statistically significant differences between the rural populations of Kherson oblast on the incidence of birth defects, involuntary miscarriages and stillbirths, in order to further identify the causes of detected heterogeneity. In calculating the frequency of these indicators in urban and rural populations, the materials of the regional medical-statistical register (medical form 21, 13, 49) are used. The statistical computation of the results obtained (calculation of confidence intervals and the reliability of the differences) was carried out using STATISTICA and Microsoft Excel 9-2000 programs. It has been established that there are significant differences between urban and rural populations in the prevalence of congenital malformations and reproductive losses. In Kherson, for the period of 2000–2013, the average incidence of developmental defects (37.8±11.3‰) and stillbirths (8.2±1.1‰) significantly exceeded similar rates in rural populations (respectively 23.9±1.4‰ and 4.8±0.6‰). However, in rural populations, the incidence of involuntary miscarriages was significantly higher (31.2 ± 1.9 ‰) than in the oblast center (18.9 ± 2.1 ‰). In addition, according to these indicators there is a significant differentiation between rural populations. The prevalence of birth defects in infants in the region is due to an increase in the frequency of “model” defects (r=0.69, p<0.05), which have a significant hereditary component. It was found that in the urban Kherson population, the relatively high frequency of postnatal violations testifies to the weakening of the “sifting” effect of natural selection. On the contrary, selection in rural populations eliminates most of the non-viable embryos in the early stages of pregnancy, as evidenced by the relatively high prevalence of involuntary miscarriages. In the long term, it is necessary to establish the correlation between the indices of the incidence of congenital and hereditary pathology in populations and the parameters of their genetic and demographic structure.

Assessment of Risk Factors for Development of Birth Defects Among Newborns in Lviv Region in 2002-2020 (Part 1)

“…The main aims of monitoring include studying the epidemiology of BD [11], assessing the effectiveness of prevention programs at the population level, and detecting and controlling new teratogenic environmental factors. The combination of genome sequencing and chromosome microarray analysis in all future monitoring programs will significantly improve the diagnosis of BD associated with genetic mechanisms [12,13].…”