The International Clearinghouse for Surveillance and Research on Congenital Defects is collecting data from surveillance of birth defects and research programs around the world to investigate, prevent and mitigate birth defects. In Ukraine, data collection on the prevalence of congenital malformations is carried out by the national profile regulator – the Ministry of Health. There is a spectrum of risk factors that increase the prevalence of genetic birth defects leading to neonatal and infant mortality, mental retardation and lifelong disability. Screening programs, including neonatal genetic screening, help to avoid such risks. Such testing with a stable detection result is carried out only for 3 diseases: phenylketonuria, hypothyroidism, cystic fibrosis today in Ukraine. The purpose of the study was to evaluate the results of screening for monogenic pathology among newborns in Ukraine. Material and methods. The results of screening for hereditary pathology of newborns in Ukraine were evaluated over a 10-year period: from 2010 to 2019. The information base was the data of official medical statistics. Out of 4,308,100 live births, 9,199,817 newborns were covered by neonatal genetic screening. The presence of genetic pathology was identified and confirmed at 1313 children. Results and discussion. According to a group of researchers from the Wadsworth Center (New York, USA), the development of the science of newborn screening, especially with new technologies, providing new types of information (genetic and physiological) for each new condition, is possible only with pilot programs. During 2010-2019 in Ukraine neonatal genetic screening covered phenylketonuria in 89.56% of newborns, hypothyroidism in 84.43% of newborns, and cystic fibrosis in 39.55% of newborns. It is necessary to create a state program of mass examination for hereditary diseases that can be treated. The main purpose of such a program is to predict the dynamics of genetic load among the population to develop the necessary medical and social measures. A decrease in the number of births of children with congenital malformations is possible in the context of government programs aimed at reducing risk factors causing congenital anomalies, as well as taking preventive measures. The main goal of such a program is to predict the dynamics of the genetic load among the population in order to develop the necessary medical and social measures. Conclusion. In Ukraine today there are no targeted programs for comprehensive prevention of congenital pathology. Improvement of the situation is possible through the involvement of high technologies, allowing to expand the panel of genetic screening to start early treatment and reduce negative results. Genetic screening has been shown to be an effective tool for detecting congenital metabolic disorders
ÄÓ Óêðà¿íñüêèé ³íñòèòóò ñòðàòåã³÷íèõ äîñë³äaeåíü ÌÎÇ Óêðà¿íè, ì. Êè¿â Ìåòà: ïðîâåäåííÿ ïîð³âíÿëüíîãî àíàë³çó âïðîâàäaeåííÿ íîâèõ îðãàí³çàö³éíî-ïðàâîâèõ òà ô³íàíñîâî-åêîíîì³÷íèõ ìåõàí³çì³â ó ï³ëîòíèõ ðåã³îíàõ (³ííèöüêà, Äí³ïðîïåòðîâñüêà îáëàñò³, ì. Êè¿â).Ìàòåð³àëè ³ ìåòîäè. Áóëè âèêîðèñòàí³ ñòàòèñòè÷í³ äàí³ ï³ëîòíèõ ðåã³îí³â; çàñòîñîâàí³ åêîíîì³÷íèé, ñòàòèñòè÷íèé, ìåòîäè ïîð³âíÿëüíîãî àíàë³çó.Ðåçóëüòàòû. Ó ï³ëîòíèõ ðåã³îíàõ âïðîâàäaeåíî íîâ³ ï³äõîäè äî îðãàí³çàö³¿ ðîáîòè çàêëàä³â îõîðîíè çäîðîâÿ òà ¿õ êàäðîâîãî çàáåçïå÷åííÿ: íà áàç³ ³ñíóþ÷î¿ ìåðåae³ çàêëàä³â ñòâîðåíî ñòðóêòóðîâàíó çà âèäàìè ìåäè÷íî¿ äîïîìîãè ñèñòåìó ìåäè÷íîãî îáñëóãîâóâàííÿ; îðãàí³çîâàíî ðîáîòó öåíòð³â ïåðâèííî¿ ìåäè÷íî¿ äîïîìîãè; ïåðåïðîô³ëüîâàíî çàêëàäè îõîðîíè çäîðîâÿ, ùî íàäàþòü âòîðèííó (ñïåö³àë³çîâàíó) ìåäè÷íó äîïîìîãó, ç óðàõóâàííÿì ³íòåíñèâíîñò³ ¿¿ íàäàííÿ; ñòâîðåíî öåíòðè åêñòðåíî¿ ìåäè÷íî¿ äîïîìîãè; îïòèì³çîâàíî êàäðîâå çàáåçïå÷åííÿ.Âèñíîâêè. Íåîáõ³äíî çàïðîâàäèòè íàáóòèé ó ï³ëîòíèõ ðåã³îíàõ äîñâ³ä ðåôîðìóâàííÿ ñèñòåìè îõîðîíè çäîðîâÿ íà íàö³îíàëüíîìó ð³âí³.ÊËÞ×β ÑËÎÂÀ: ï³ëîòí³ ðåã³îíè, ïåðâèííà ìåäè÷íà äîïîìîãà, åêñòðåíà ìåäè÷íà äîïîìîãà, âòîðèííà ìåäè÷íà äîïîìîãà, åôåêòèâí³ñòü, ÿê³ñòü ìåäè÷íî¿ äîïîìîãè.
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