У статті на підставі офіційних статистичних даних проведена оцінка
величини генетичного тягаря херсонської популяції, обумовленого
вродженою хромосомною патологією. Частота генетично обумовлених
вроджених вад розвитку новонароджених виявилася істотно вищою (1,33 ±
0,018%о) за середні показники в Україні (0,99 ± 0,014%). Провідне місце в їх
структурі займає синдром Дауна (популяційна частота 1,08 ± 0,09%; в
Україні - 0,86%), друге - синдром Патау (0,057 ± 0,018%; в Україні - 0,016%),
синдром Едвардса (0,028 ± 0,01%) і Тернера (0,020 ± 0,01%). Причому
частота двох останніх хромосомних аномалій серед немовлят суттєво не
відрізнялася від аналогічних показників в Україні (відповідно 0,027 ± 0,002%
і 0,021 ± 0,003%). У сільських популяціях області протягом останніх п’яти
років спостерігається статистично достовірне збільшення частоти
хромосомної патології (з 1,09 до 1,95%), тоді як в обласному центрі
відбувається протилежний процес - поступове зниження цього показника, що
потребує подальшого моніторингового дослідження.
В статье на основании официальных статистических данных
проведена оценка величины генетического груза херсонской
популяции, обусловленного врожденной хромосомной патологией. Час -
тота генетически обусловленных врожденных пороков развития
новорожденных оказалась существенно выше (1,33 ± 0,018%), чем
средние показатели в украинских популяциях (0,99 ± 0,014%). Ведущее
место в их структуре занимает синдром Дауна (популяционная частота
1,08 ± 0,095%; в Украине - 0,86%), далее - синдром Патау (0,057 ± %о; в
Украине - 0,016%), синдромы Едвардса (0,028 ± 0,01%) и Тернера (0,020 ±
0,01%). Причем частота двух последних хромосомных аномалий среди
живорожденных существенно не отличается от аналогичных показателей в
Украине (соответственно 0,027 ± 0,002% и 0,021 ± 0,003%). В сельских
популяциях области в течение последних пяти лет наблюдается
статистически достоверное увеличение частоты хромосомной патологии (з
1,09 до 1,95%), тогда как в обласном центре происходит противоположный
процесс - постепенное снижение этого показателя, что требует проведения
дальнейшего мониторингового исследования.
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
1,9 016% . 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 (%2 = 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 20062009 (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 (populationbasedfrequency
of1,08 ± 0,095%; in Ukraine - 0,86%),thesecond - 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
9. 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.
