Аналіз динаміки народження дітей з аутосомними трисоміями по Хмельницькій області

Abstract

Стаття присвячена динаміці народження дітей з трисоміями за 21, 18 та 13 парою аутосом у Хмельницький області протягом 2017–2021 років. Проведений аналіз показав, що за п’ять років в області народилося 50475 немовлят. Проте щороку спостерігалося зниження народжуваності у середньому на 705 дітей, а частота новонароджених із синдромом Дауна, Едвардса і Патау коливалася у межах 0,10–0,13 %. За досліджуваний період народилося 45 дітей з синдромом Дауна, у яких згідно із цитологічними обстеженнями виявлено повну трисомію (39 дітей, 87 %), мозаїчну форму (4 дитини, 9 %), транслокаційну форму (2 дитини, 4 %); 12 дітей із синдромом Едвардса, у яких діагностували повну трисомію (9 дітей, 67 %) та мозаїчну форму (3 дитини, 33 %); 2 дітей із синдромом Патау, що мали повну трисомію. Проаналізувавши амбулаторні дані хворих пацієнтів щодо розподілу батьків пробандів за віком, встановлено, що основна частина (38 породіль, 64 %) припадає на батьків, які не відносяться до групи ризику за віком щодо народження дитини із трисомією.

In the face of challenging modern demographic conditions, the imperative of preserving human life is becoming increasingly urgent. Environmental pollution, a deteriorating ecological landscape, imbalanced nutrition, unhealthy lifestyles, the accumulation of hereditary defects, and a rising genetic burden collectively exert adverse effects on Ukraine's gene pool. This unfortunate scenario contributes to the increased rate of early child mortality and the birth of children with disabilities [7]. The objective of this study was to analyze the trends in child births with Down, Edwards, and Patau syndromes while investigating the influence of maternal age on the incidence of these genetic anomalies in the Khmelnytskyi region from 2017 to 2021. We conducted an analysis of statistical data pertaining to newborns, utilizing information from the Main Statistical Office in the Khmelnytskyi region. This investigation was undertaken in collaboration with the medical and genetic consultation department of the KP "Khmelnytskyi City Perinatal Center." It involved a comprehensive review of outpatient records for patients born with Down, Edwards, and Patau syndromes, aimed at understanding the clinical condition of the infants and the course of pregnancy in their mothers. The analysis revealed that a total of 50,475 babies were born in the region over the course of five years. However, an annual decrease in the birth rate was observed, with an average reduction of 705 children per year. The incidence rate of newborns with Down syndrome, Edwards syndrome, and Patau syndrome ranged from 0.10% to 0.13%. During the research period, 45 children with Down syndrome were born in the Khmelnytskyi region. Cytogenetic analysis indicated that 39 of these children (87 %) had a complete trisomy, 4 had a mosaic form (9 %), and 2 (4 %) had a translocation form. Children with complete trisomy exhibited four or more phenotypic features simultaneously. In the region, 12 children were born with Edwards syndrome, including 9 with complete trisomy and 3 with a mosaic form. No newborns were identified with partial trisomy. Cases included both full-term and premature births, as well as instances of infant mortality. Two children with Patau syndrome were born (1 boy in 2017 and 1 girl in 2019), both with complete trisomy. They were born full-term but with low birth weight and multiple developmental disabilities, with one child surviving for 12 hours and the other for 31 hours. Upon analyzing the age of the parents of the probands, it was discovered that the majority (38 mothers, 64 %) were not within the age risk group for having a child with trisomy. This suggests that women of any age can be at risk of having a child with trisomy. Thus, there is a clear need for medical-genetic counseling and prenatal screening for every pregnant woman during the first trimester of pregnancy.