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• W2934470272 abstract "The infant mortality rate in Ukraine has been progressively decreasing over the past decade, but remains very high compared with the countries of the European Union. The mortality rate of infants in the first year of life in Ukraine is 2.5–3 times higher than in the EU countries, while the mortality rate of newborns during the first month of life exceeds the average European level by 6.6 times. This indicates a significant backlog of our country in the implementation of modern standards of medical care for both pregnant women and newborns using modern diagnostic and treatment methodologies.One of the most effective way that allowed to reduce significantly infant mortality and disability rates in the developed countries of the world proved to be introduction of expanded newborn screening as a tool of early detection of wide spectrum of inherited metabolic disorders (IMD) – orphan diseases caused by genetic defects of particular enzymes leading to alterations in specific metabolic pathways. As a rule, IMDs occurrence cannot be established during medical examination of newborns due to the absence of clinical symptoms. Therefore, IMDs are diagnosed in two ways: (i) with clinical manifestation in the form of “neonatal catastrophes” and/or sudden infant death syndrome, (ii) according to the results of a biochemical examination of the blood of all (asymptomatic) newborns (i.e. screening). Delays or errors in the diagnosis of these diseases often lead to irreversible damage of many organs, first of all, the brain (neurological deficits, mental retardation, oligophrenia). Newborn screening – measurement in dried blood spots, sampled in asymptomatic newborns, concentrations of a specific set of substances which characterize key processes of protein, carbohydrate and lipid metabolism as a tool of early IMDs identification and prompt treatment initiation of affected children to prevent metabolic decompensation episodes and disability development was started in the 1960s in the United States with just one disease – phenylketonuria.By now, newborn screening programs have been implemented in more than 50 countries of the world and provide diagnostics of more than 45 IMDs. A significant (8–10 times) expanding the spectrum of IMDs that can be detected upon examination of dried blood spots on filter paper has been achieved by application of a high-throughput quantitative bioanalysis method – tandem mass spectrometry (TMS) in the late 1990s. Unlike routinely applied immunofluorimetric method allowing to measure just one biochemical agent in one blood sample, TMS allowed to analyze concentrations of several dozen substances in one dried blood spot.Currently, in Ukraine newborn screening is carried out for 4 diseases: phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, and cystic fibrosis using the low-throughput immunofluorimetric method. In some cases, expanded newborn screening using TMS method is performed on a commercial basis in foreign laboratories. At the same time, according to the Law of Ukraine No. 2461 “On ensuring the prevention and treatment of rare diseases” dated April 15, 2014, and the Orders of the Ministry of Health of Ukraine No. 778 dated 10.27.2014, No. 919 dated December 30, 2015, and No. 731 dated June 29, 2017, “The list of rare (orphan) diseases, that lead to a reduction of patient’s lifespan or their disability, and for these diseases there are well-established methods of treatment comprises more than 60 inherited metabolic disorders.This indicates a significant backlog of our country in the issue of not only ethical and medical significance, but great social and economic importance.The key issue of the expanded newborn screening implementation using high-throughput and accurate TMS method in Ukraine is the absence of modern analytical instruments and supplementary equipment in the state medico-genetic laboratories, as well as analysts with sufficient level of training. TMS is a technically complex method based on application of expensive vacuum and chromatographic equipment, special software, isotopic labeling reagents, high-purity gases, instruments maintenance with the aid of foreign experts, as well as qualified lab staff.Such private clinical diagnostic laboratory, where TMS-measurements are performed routinely at site and biomaterials are not transferred abroad exists in Ukraine. This laboratory is capable to perform the full range of measurements at the initial stage of newborn screening (TMS-analysis) and the secondary confirmatory testing using gas-chromatography/mass-spectrometry (GC/MS) and high performance liquid chromatography (HPLC) methods, as well as enzymes activity assessment and molecular-genetic studies. On the basis of reached agreement in September 2017 it was started the development of the Program of improving the diagnostics of inherited metabolic diseases in newborns and older children in Ukraine. This Program has been initiated by the National Academy of Medical Sciences of Ukraine with the participation of “Association of Pediatricians of Ukraine” and “Association of Neonatologists of Ukraine”, as well as membership of the “Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of NAMS of Ukraine”, medical universities and regional health-care providers.The purpose of the Program is to expand up to 29 the list of inherited metabolic disorders to be diagnosed in newborns and older children that allows early start of treatment and follow-up of affected patients. Wide implementation of the Program allows reducing the levels of neonatal, infant and child mortality and disability.The Program is based on the following principles: (i) a clear distribution of the responsibilities between participants considering newborn screening procedures and processes; (ii) implementation of electronic document management system to register transferring of biomaterial from the moment of sampling to presentation of laboratory measurement results, it’s expert evaluation and medical recommendations for further actions; (iii) documented customer feedback to report the results and it’s expert evaluation; (iv) creation of the database for calculating the threshold concentrations of biochemical markers and its’ ratios (cut-off) for the Ukrainian population in order to reduce the number of false-negative and false-positive results.Financing of the Program have relied on funding of regional budgets, extra-budgetary funds and own funds of parents.The implementation of the preparatory phase of the Program was launched in Spring, 2018. The launch of the pilot part of the Program in 5 regions: Kiev, Kiev Region, Lugansk and Donetsk Regions, and the city Chernivtsi is scheduled for April 2019. The program is planned to be expanded throughout Ukraine at the end of 2020." @default.
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• W2934470272 date "2019-03-26" @default.
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• W2934470272 title "PRACTICAL STEPS TO IMPROVE THE DIAGNOSTICS OF INHERITED METABOLIC DISEASES IN NEWBORNS AND OLDER CHILDREN IN UKRAINE" @default.
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