MONITORING PRINCIPLES OF GENETIC PATHOLOGY AND CONGENITAL MALFORMATIONS IN CHILDREN
Abstract
The aim of the study is to summarize the literature data on the monitoring of genetic diseases and congenital malformations in children. Material and methods. We studied publications of foreign and domestic authors, reviews of randomized controlled studies from various sources of scientific literature, including platforms PubMed, CyberLeninka, etc. The search depth was 20 years. A literature search was conducted by keywords: genetic diseases, monitoring, children. Results. There is an urgent need for a differentiated approach to the organization of monitoring for chromosomal, gene-related diseases and congenital malformations since this is about increased mortality, disability of children, and a decrease in the quality of family life. There are features of the population genetics of various types of genetic diseases, malformations, which determines the validity of creating registers of
patients with these diseases.
patients with these diseases.
About the Authors
D. Zh. Zhanataeva
University Medical Center Corporate
Foundation Office, National Research Center for Maternity and Childhood, Nur-Sultan, Surgut State University
Russian Federation
Geneticist, Clinical Genetic Testing Department, Postgraduate, Department of Children Diseases
Russian Federation
Geneticist, Clinical Genetic Testing Department, Postgraduate, Department of Children Diseases
V. V. Meshcheryakov
Surgut State University
Russian Federation
Doctor of Science (Medicine), Professor, Head, Department of Children Diseases, Medical Institute
Russian Federation
Doctor of Science (Medicine), Professor, Head, Department of Children Diseases, Medical Institute
References
1. Durnev A. D., Seredenin S. B. Mutageny: skrining i farmakologicheskaia profilaktika vozdeistvii. Moscow : Meditsina, 1998. 328 p. (In Russian).
2. Ginter E. K., Zinchenko R. A. Hereditary Diseases in Russian Populations // The Herald Vavilov Soc Genet Breed Sci. 2006. No. 1. Vol. 10. P. 106–125. (In Russian).
3. Bochkov N. P., Chebotarev A. N. Nasledstvennost cheloveka i mutageny vneshnei sredy. Moscow : Meditsina. 1989. 272 p. (In Russian).
4. Demikova N. S. Monitoring vrozhdennykh porokov razvitiia i ego znachenie v izuchenii ikh epidemiologii // Pediatriia. 2003. No. 4. P. 13–14. (In Russian).
5. Jackson J. M., Crider K. S., Olney R. S. Populationbased Surveillance for Rare Congenital and InheritedDisorders: Models and Challenges // Adv Exp Med Biol.
6. Vol. 686. P. 133–150.
7. Krikunova N. I., Nazarenko L. P., Shapran N. V. Tomskii geneticheskii registr kak sistema nabliudenii za dinamikoi gruza nasledstvennoi patologii v populiatsiiakh Sibiri // Med. genetika. 2002. No. 3. P. 141–144. (In Russian).
8. Demikova N. S., Kozlova S. I. Monitoring vrozhdennykh porokov razvitiia // Vestnik RAMN. 2010. No. 11. P. 29–32. (In Russian).
9. Kobrinskii B. A., Tester I. B., Demikova N. S. Kontseptsiia i realizatsiia federalnoi kompiuternoi sistemy dlia semei s nasledstvennymi zabolevaniiami. // Med. tekhnika. 2010. No. 3. P. 37–39. (In Russian).
10. Novikov P. V. Semiotika nasledstvennykh boleznei u detei: symptom – sindrom–bolezn. Moscow : Triada-Kh, 2009. 432 p. (In Russian).
11. Germanov V. T. Geneticheskii monitoring vrozhdennoi i nasledstvennoi patologii. Lugansk : NFV STEK, 2004. 312 p. (In Russian).
12. Muller R. F, Jong I. D. Emery’s Elements of Medical Genetics. Churchill Livingston, 2001. P. 225–237.
13. Czeizel A. E., Intody L., Modell B. What Proportion of Congenital Abnormalities can be Prevented // BMJ. 1993. Vol. 306. P. 499–503.
14. Hook E. B. Timely Monthly Surveillance of Birth Prevalence Rates of Congenital Malformations and Genetic Disorders Ascertained by Registries or Other
15. Systematic Data Bases // Teratology. 1990. No. 41, Vol. 2. P. 177–184.
16. Greenlees R., Neville A., Addor M. C. et al Paper 6: EUROCAT Member Registries: Organization and Activities // Birth Defects Res A Clin Mol Teratol. 2011.
17. Vol. 91. Suppl 1. P. S51–S100.
18. Smertina L. P., Kolbasin L. N. Issues of Diagnosis and Treatment of Orphan Diseases. Clinical Case of Late-Onset Glycogenosis Type II in an Adult // Vestnik
19. SurGU. Medicina. 2019. No. 1. P. 34–35. (In Russian).
20. Källén B., Winberg J. Predictive Value and Completeness of the Registration of Congenital Abnormalities in Three Danish Population-Based Registries // Scand J Public Health. January. 2003. Vol. 31. P. 12–16.
21. Boyd P., Armstrong B., Dolk H., Wellesley D. Congenital Anomaly Surveillance in England: the Ascertainment Deficiencies in the National System // BMJ. 2005.
22. No. 1. P. 27–37.
23. Genetika / ed. V. I. Ivanova. Moscow : Akademkniga, 2006. 638 p. (In Russian).
24. Kobrinskii B. A., Demikova N. S. Piatiletnii opyt raboty po monitoringu vrozhdennykh porokov razvitiia v Rossii // Sovremennye tekhnologii v pediatrii i
25. detskoi khirurgii : III Congress Proceedings, Oktober 20–22. Moscow, 2004. P. 377–378. (In Russian).
26. Klinberg M. A., Papier C. M., Jacob H. Birth Defects Monitoring // Am J Indust Medicine. 1983. Vol. 4. P. 309–328.
27. Mosquera C., Moro C., Badia J. L. S. Registry of Congenital Defects in Asturias (Spain) // Eur J Epidemiol. 1991. No. 7. Vol. 6. P. 723–724.
28. Dutton S. J., Owens J. R., Harris F. Ascertainment of Congenital Malformations: a Comparative Study of Two Systems // J Epidemiol and Community Health. 1991. No. 45. Vol. 4. P. 294–298.
29. Laziuk G. I. Teratologiia cheloveka. Moscow : Meditsina, 1999. 479 p. (In Russian).
30. Antonov O. V. Kliniko-epidemiologicheskoe izuchenie vrozhdennykh porokov razvitiia u detei v Omske // Pediatriia. 2006. No. 5. P. 108–110. (In Russian).
31. Ailamazian E. K., Baranov V. S. Prenatalnaia diagnostika nasledstvennykh i vrozhdennykh boleznei. Moscow : MedPress-inform, 2006. 416 p. (In Russian).
32. Boyd P. A., Tonks A. M., Rankin J., Rounding C., Wellesley D., Draper E. S. Monitoring the Prenatal Detection of Structural Fetal Congenital Anomalies in England and Wales: Register-Based Study // J Med Screen. 2011. No. 18 (1). P. 2–7.
33. Baranov V. S., Kuznetsova T. V. Tsitogenetika embrionalnogo razvitiia cheloveka: Nauchnoprakticheskie aspekty. Saint-Petersburg : Izdatelstvo
34. N-L, 2007. 640 p. (In Russian).
35. Gasnikov V. K., Obukhova L. N., Khochenkova N. N. Razrabotka spetsializirovannykh meditsinskikh registrov na regionalnom urovne // Informatizatsiia protsessov upravleniia v regionalnom zdravookhranenii. Izhevsk, 2004. P. 100–103. (In Russian).
36. Veselkov A. V., Korobko A. A., Serebrennikov A. V. Opyt ekspluatatsii informatsionnoi sistemy “Registr SD” // Informatsionno-analiticheskie sistemy i tekhnologii v zdravookhranenii i OMS : Proceedings of the All-Russian Conference. September 14–17, 2002. Krasnoyarsk : KMIATs, 2002. P. 295–300. (In Russian).
37. Barashnev Iu. I., Bakharev V. A. Embriofetopatii. Diagnostika i profilaktika anomalii tsentralnoi nervnoi sistemy i skeleta. Moscow : Triada-Kh, 2010. 480 p.
38. (In Russian).
39. Abildinova G., Zhanatayeva D., Nagymtayeva A. Genetic cargo in the population of Kazakhstan according to the information-analytical system “Umit”
40. // Journal of Clinical Medicine of Kazakhstan. 2017. No. 3. P. 51–54. (In Russian).
41. Sbitneva V. N., Sedashkina O. A., Vialkova A. A., Zhukova E. G. Desiatiletnii monitoring vrozhdennykh porokov razvitiia v Orenburgskoi oblasti // Med. genetika. 2010. No. 5. P. 161. (In Russian).
42. Pankova E. E., Matulevich S. A. Rezultaty desiatiletnego monitoringa vrozhdennykh porokov razvitiia v Krasnodarskom krae // Sovremennye tekhnologii v
43. pediatrii i detskoi khirurgii : VIII Congress Proceedings. Oktober 20–22. Мoscow, 2009. P. 86–87. (In Russian).
Review
For citations:
Zhanataeva D.Zh., Meshcheryakov V.V. MONITORING PRINCIPLES OF GENETIC PATHOLOGY AND CONGENITAL MALFORMATIONS IN CHILDREN. Vestnik SurGU. Meditsina. 2019;(3 (41)):38-43. (In Russ.)
Views:
329
Email this article 
