ISSN 2415-3060 (print), ISSN 2522-4972 (online)
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JMBS 2020, 5(6): 292–298
https://doi.org/10.26693/jmbs05.06.292
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Neonatal Screening for Monogenic Inborn Pathology in Ukraine

Omelchenko E. M., Polka O. O., Karamzina L. A.
Abstract

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

Keywords: congenital pathology, neonatal screening

Full text: PDF (Ukr) 378K

References
  1. WHO. Congenital anomalies [Electronic resourse]. Available from: https://www.who.int/ru/news-room/fact-sheets/detail/congenital-anomalies/en
  2. Shoraka HR, Haghdoost AA, Baneshi MR, Bagherinezhad Z, Zolala F. Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis. Clin Exp Pediatr. 2020: 63(2): 34-43. https://doi.org/10.3345/kjp.2019.00465
  3. Guthrie R. Screening for ‘inborn errors of metabolism’ in the newborn infant - a multiple test program. Birth defects Original Article Series IV. 1962: 92-98.
  4. MaCcready RA, Hussey MG. Newborn phenylketonuria detection program in Massachusetts. Am J Public Health Nations Health. 1964: 54: 2075-81. https://doi.org/10.2105/AJPH.54.12.2075
  5. Health Departments of the United Kingdom. Second Report of the National Screening Committee. London: Department of Health; 2000. 26 р.
  6. Nakaz MOZ Ukrayiny № 457 vid 13.11.2001. Pro zakhody shchodo udoskonalennya medychnoyi dopomogy khvorym na fenilketonuriyu v Ukrayini [On measures to improve medical care for patients with phenylketonuria in Ukraine]. [Ukrainian]. https://doi.org/10.1097/00019616-200111000-00005
  7. Nakaz MOZ Ukrayiny № 641/84 vid 31.12.2003. Pro udoskonalennya medyko-genetychnoyi dopomogy v Ukrayini [On the improvement of medical and genetic care in Ukraine]. [Ukrainian]
  8. Nakaz MOZ Ukrayiny № 221 vid 23.03.2012. Pro zatverdzhennya Tymchasovogo poryadku provedennya skryningu novonarodzhenykh na adrenogenitalnyy syndrom, mukovistsydoz i otsinky yogo rezultativ [On approval of the Interim Procedure for screening newborns for adrenogenital syndrome, cystic fibrosis and evaluation of its results]. [Ukrainian]
  9. Ukaz Prezydenta Ukrayiny №214/2019 vid 11.05.2019. Pro dodatkovi zakhody shchodo derzhavnoyi pidtrymky sim'yi, okhorony materynstva, batkivstva ta dytynstva [On additional measures for state support of the family, maternity, fatherhood and childhood]. [Ukrainian]. Available from: https://zakon.rada.gov.ua/laws/show/214/2019#Text
  10. Evropeyskaya Komyssiya. Nezavysymaya ekspertnaya gruppa. 25 rekomendatsyy po etyke, yurydycheskym y sotsyalnym posledstvyyam genetycheskogo testyrovanyya [25 recommendations on ethics, legal and social consequences of genetic testing]. Luxemburg: Office for Official Publications of European Communities; 2004. 26 s. [Russian]
  11. European Commission. The Independent expert group. Ethical, legal and social aspects of genetic testing: research, development and clinical application. Luxemburg: Office for Official Publications of European Communities; 2004. 100 p.
  12. UNESCO International Bioethics Committee. International Declaration on Human Genetic Data. Paris; 2003. 12 p.
  13. Grechanina OYa, Grechanina YuB, Ozerova LS, Zdybska OP, Molodan LV, Bugayova OV, et al. Medychna genetyka (samostiyna pidgotovka studentiv) [Medical genetics (independent training of students)]. Navchalnyy posibnyk. Kharkiv: KhNMU; 2010. 190 s. [Ukrainian]
  14. Paramonova NS, Petrovych SA, Karpovych EA, Markevych AT. Chastota vstrechaemosty vrozhdennykh porokov razvytyya ploda v Grodnenskoy oblasty y vozmozhnosty ykh korrektsyy [Frequency of congenital malformations of the fetus in the Grodno region and the possibility of their correction]. V: Paramonova NS, otv redaktor. Sovremennoe sostoyanye zdorovya detey: sb mat IV regyon nauch-prakt konf s mezhdunar uchastyem; 2015 Apr 14-16. Grodno: GrGMU; 2016. 2016: 196-198. [Russian]
  15. Turdalyeva BS, Tashenova GT, Koshymbekov MK, Yemberdyev AM, Sharypov MK. Profylaktyka vrozhdennykh porokov razvytyya u detey v Respublyke Kazakhstan [Prevention of congenital malformations in children in the Republic of Kazakhstan]. Vestnyk KazNMU. 2018; 1: 411-413. [Russian]
  16. Ershova-Pavlova AA, Karpenko GA, Rynkevych EP, Slavshchyk AA, Khmel RD, Naumchyk YV, et al. Systema monytorynga v otsenke narushenyy embryonalnogo razvytyya v populyatsyy Belarusy [Monitoring system in the assessment of embryonic development disorders in the population of Belarus]. Sb trudov III Mezhdunarodnoy konferentsyy «Genetyka y byotekhnologyya XXI veka: problemy, dostyzhenyya, perspektyvy», posvyashchennaya 115-letyyu so dnya rozhdenyya akademyka AR Zhebraka, XI sezda Belorusskogo obshchestva genetykov y selektsyonerov. 2016. s. 65. [Russian]
  17. Mokhyreva LA, Cherepkova EA, Emelyanova EV, Kyseleva MM. Skrynyng dyagnostyka kak effektyvnoe sredstvo vyyavlenyya porokov rannego razvytyya [Screening diagnosis as an effective means of detecting defects in early development]. In: Rezultaty sovremennykh nauchnykh yssledovanyy y razrabotok. Minsk: Vydavetstva «Navukovy svet»; 2017. s. 214-220. [Russian]
  18. Tebyeva YS, Lagkueva FK, Logachev MF. Opyt myrovoy y otechestvennoy praktyky neonatalnogo skrynynga na nasledstvennye zabolevanyya [Experience of world and domestic practice of neonatal screening for hereditary diseases]. Pedyatryya. 2012: 91(1): 128-132. [Russian]
  19. Pass K, Green NS, Lorey F, Comeau AM. Pilot programs in newborn screening. Mental Retardation and Developmental Disabilities Research Reviews. 2006; 12 (4): 293-300. https://doi.org/10.1002/mrdd.20122
  20. Zakharova EYu, Izhevskaya VL, Baydakova GV, Ivanova TA, Chumakova OV, Kutsev SI. Massovyy skrining na nasledstvennye bolezni: klyuchevye voprosy [Newborn screening for inherited metabolic diseases: key issues]. Medical Genetics. 2017; 16(10): 3-13. [Russian]