Preview

Качественная клиническая практика

Расширенный поиск

Современные аспекты эпидемиологии врождённых аномалий развития: методологические вопросы и трансляция результатов исследований в клиническую практику

https://doi.org/10.24411/2588-0519-2018-10051

Полный текст:

Аннотация

Достигнутые успехи в выявлении и характеристике факторов риска возникновения врождённых аномалий происходят в основном благодаря эпидемиологическим исследованиям, давшим многочисленные ассоциации между факторами риска и группами врождённых дефектов. Однако в клинической практике трансляция этих ассоциаций в качестве фактических причин остаётся весьма сложной. Характеристика и эпидемиологический анализ возможных факторов, в частности лекарственных средств, связанных с возникновением врождённых аномалий, имеют решающее значение для разработки профилактических мероприятий, оказывающих воздействие на распространённость дефектов. В дальнейшем уменьшению глобального бремени врождённых дефектов может способствовать интеграция исследований в области эпидемиологии, генетики и эпигенетики через персонализированные и популяционно ориентированные превентивные стратегии.

Об авторах

О. В. Решетько
ФГБОУ ВО Саратовский ГМУ им. В.И. Разумовского Минздрава России
Россия

Решетько Ольга Вилоровна, доктор медицинских наук, профессор, заведующая кафедрой фармакологии

Саратов



К. А. Луцевич
ФГБОУ ВО Саратовский ГМУ им. В.И. Разумовского Минздрава России
Россия

Луцевич Константин Александрович, кандидат медицинских наук, доцент кафедры фармакологии

Саратов



Список литературы

1. who.int [Internet]. World Health Organization. Congenital anomalies, Fact Sheet 370, World Health Organization, Geneva, Switzerland, 2016 [cited 2018 Aug 29]. Available from: http://www.who.int/mediacentre/factsheets/fs370/en/

2. Christianson AL, Howson CP, Modell B. Te March of Dimes Global Report on Birth Defects: Te Hidden Toll of Dying and Disabled Children. New York: March of Dimes Birth Defects Foundation, White Plains, 2006.

3. who.int [Internet]. World Health Assembly resolution 63.17: birth defects [updated May 21 2010; cited 2018 Aug 29]. Available from: http://apps.who.int/gb/ebwha/pdffiles/WHA63-REC1/WHA63REC1-P2-en.pdf.

4. WHO/CDC/ICBDSR. Birth defects surveillance: a manual for programme managers [Internet]. Geneva: World Health Organization; 2014 [cited 2018 Aug 29]. Available from: http: //www.cdc.gov/ncbddd/birthdefectscount/documents/bd-surveillance-manual.pdf.

5. Feldkamp ML, Carey JC, Byrne JLB, et al. Etiology and clinical presentation of birth defects: population based study. BMJ. 2017;357:j2249. DOI: 10.1136/bmj.j2249

6. Goodrum LA, Hankins GDV, Jermain D, Chanaud CM. Conference report: complex clinical, legal, and ethical issues of pregnant and postpartum women as subjects in clinical trials. J Womens Health (Larchmt). 2003;12(9):857- 867. DOI: 10.1089/154099903770948087

7. Wlodarczyk B, Palacios A, Chapa C, et al. Genetic basis of susceptibility to teratogen induced birth defects. Am J Med Genet C Semin Med Genet. 2011;157C (3):215-226. DOI: 10.1002/ajmg.c.30314

8. Rasmussen SA, Erickson JD, Reef SE, Ross DS. Teratology: from science to birth defects prevention. Birth Defects Res A Clin Mol Teratol. 2009;85(1):82- 92. DOI: 10.1002/bdra.20506

9. Hernandez-Diaz S, Oberg AS. Are epidemiological approaches suitable to study risk/preventive factors for human birth defects? Curr Epidemiol Rep. 2015;2(1):31-36. DOI: 10.1007/s40471-015-0037-5

10. Friedman JM. Big risks in small groups: the difference between epidemiology and counselling. Birth Defects Res A Clin Mol Teratol. 2009;85(8):720-724. DOI: 10.1002/bdra.20606

11. Feldkamp ML, Botto LD, Carey JC. Reflections on the etiology of structural birth defects: established teratogens and risk factors. Birth Defects Res A Clin Mol Teratol. 2015;103(8):652-655. DOI: 10.1002/bdra.23392

12. Rasmussen SA, Olney RS, Holmes LB, et al. Guidelines for case classifcation for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2003;67(3):193-201. DOI: 10.1002/bdra.10012

13. Holmes LB, Westgate MN. Inclusion and exclusion criteria for malformations in newborn infants exposed to potential teratogens. Birth Defects Res A Clin Mol Teratol. 2011;91(9):807-812. DOI: 10.1002/bdra.20842

14. Lupo PJ, Symanski E, Waller DK, et al. Polytomous logistic regression as a tool for exploring heterogeneity across birth defect subtypes: an example using anencephaly and spina bifda. Birth Defects Res A Clin Mol Teratol. 2010;88(8):701-705. DOI: 10.1002/bdra.20671

15. Botto LD, Lin AE, Riehle-Colarusso T, et al. Seeking causes: classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol. 2007;79(10):714-727. DOI: 10.1002/bdra.20403

16. Correa A, Gilboa SM, Besser LM, et al. Diabetes mellitus and birth defects. Am J Obstet Gynecol. 2008;199 (3):237.e1—237.e9. DOI: 10.1016/j.ajog.2008.06.028

17. Khoury MJ. Commentary: contributions of epidemiology to the study of birth defects in humans. Teratology. 1995;52(4):186-189. DOI: 10.1002/tera.1420520403

18. Jones KL, Jones MC, Del Campo M. (eds.) Smith’s recognizable patterns of human malformation. 7th ed. Saunders: 2013. 1019 p.

19. Solomon BD, Bear KA, Kimonis V, et al. Clinical geneticists’ views of VACTERL/VATER association. Am J Med Genet A. 2012;158A(12):3087-3100. DOI: 10.1002/ajmg.a.35638

20. Perez-Aytes A, Ledo A, Boso V, et al. In utero exposure to mycophenolate mofetil: a characteristic phenotype? Am J Med Genet A. 2008;146A(1):1-7. DOI: 10.1002/ajmg.a.32117

21. Tinker SC, Gilboa S, Reefuis J, et al. Challenges in studying modifable risk factors for birth defects. Curr Epidemiol Rep. 2015;2(1):23-30. DOI: 10.1007/s40471-014-0028-y

22. Scialli AR. Te National Birth Defects Prevention Study: how to communicate data. Semin Fetal Neonatal Med. 2014;19(3):170-176. DOI: 10.1016/j.siny.2013.09.007

23. Howards PP, Johnson CY, Honein MA, Flanders WD. Adjusting for bias due to incomplete case ascertainment in case-control studies of birth defects. Am J Epidemiol. 2015;181(8):595-607. DOI: 10.1093/aje/kwu323

24. Kallen B. Te problem of confounding in studies of the effect of maternal drug use on pregnancy outcome. Obstet Gynecol Int. 2012;2012:148616. DOI: 10.1155/2012/148616

25. Werler MM. Congenital malformations and consequential epidemiology. Curr Epidemiol Rep. 2015;2(1):8-12. DOI: 10.1007/s40471-014-0029-x

26. Agopian AJ, Lupo PJ, Tinker SC, et al. Working towards a risk prediction model for neural tube defects. Birth Defects Res A Clin Mol Teratol. 2012;94(3):141-146. DOI: 10.1002/bdra.22883

27. Agopian AJ, Tinker SC, Lupo PJ, et al. Proportion of neural tube defects attributable to known risk factors. Birth Defects Res A Clin Mol Teratol. 2013;97(1):42-46. DOI: 10.1002/bdra.23100

28. Yoon P, Rasmussen SA, Lynberg M, et al. Te National Birth Defects Prevention Study. Public Health Rep. 2001;116(Suppl 1):32-40. DOI: 10.1093/phr/116.S1.32

29. Rodriguez-Pinilla E, Mejias C, Prieto-Merino D, et al. Risk of hypospadias in newborn infants exposed to valproic acid during the frst trimester of pregnancy: a case-control study in Spain. Drug Saf. 2008;31(6):537- 543. DOI: 10.2165/00002018-200831060-00008

30. Werler MM, Louik C, Mitchell AA. Case-control studies for identifying novel teratogens. Am J Med Genet C Semin Med Genet. 2011;157C(3):201-208. DOI: 10.1002/ajmg.c.30307

31. Poletta FA, Gili JA, Castilla EE. Latin American Collaborative Study of Congenital Malformations (ECLAMC): a model for health collaborative studies. Public Health Genomics. 2014;17(2):61-67. DOI: 10.1159/000356568

32. Hernán MA, Hernández-Díaz S, Werler MM, Mitchell AA. Causal knowledge as a prerequisite for confounding evaluation: an application to birth defects epidemiology. Am J Epidemiol. 2002;155(2):176-184. DOI: 10.1093/aje/155.2.176

33. Wilcox AJ, Weinberg CR, Basso O. On the pitfalls of adjusting for gestational age at birth. Am J Epidemiol. 2011;174(9):1062-1068. DOI: 10.1093/aje/kwr230

34. Holmes LB. Human teratogens: update 2010. Birth Defects Res A Clin Mol Teratol. 2011;91(1):1-7. DOI: 10.1002/bdra.20748

35. Obican S, Scialli AR. Teratogenic exposures. Am J Med Genet C Semin Med Genet. 2011;157C(3):150-169. DOI: 10.1002/ajmg.c.30310

36. Simeone RM, Feldkamp ML, Reefuis J, et al. CDC Grand Rounds: understanding the causes of major birth defects — steps to prevention. MMWR Morb Mortal Wkly Rep. 2015;64(39):1104-1107. DOI: 10.15585/mmwr.mm6439a3

37. Srivastava D. Genetic regulation of cardiogenesis and congenital heart disease. Annu Rev Pathol. 2006;1:199-213. DOI: 10.1146/annurev.pathol.1.110304.100039

38. Zhu H, Kartiko S, Finnell RH. Importance of gene-environment interactions in the etiology of selected birth defects. Clin Genet. 2009;75(5):409- 423. DOI: 10.1111/j.1399-0004.2009.01174.x

39. Friedman JM. Using genomics for birth defects epidemiology: can epigenetics cut the GxE Gordian knot? Birth Defects Res A Clin Mol Teratol. 2011;91(12):986-989. DOI: 10.1002/bdra.22875

40. Parker SE, Mai CT, Canfeld MA, et al. Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1008-1016. DOI: 10.1002/bdra.20735

41. Carmichael SL. Birth defects epidemiology. Eur J Med Genet. 2014;57(8):355-358. DOI: 10.1016/j.ejmg.2014.03.002.

42. Graham JM Jr, Hennekam RC. Genetics of common malformations. Eur J Med Genet. 2014;57(8):353-354. DOI: 10.1016/j.ejmg.2014.05.007

43. Martínez-Frías ML. Talidomida: 50 an˜os despue´s [Te thalidomide experience: review of its effects 50 years later]. Med Clin (Barc). 2012;139(1):25- 32. DOI: 10.1016/j.medcli.2011.10.011. [Article in Spanish].

44. Webber DM, MacLeod SL, Bamshad MJ, et al. Developments in our understanding of the genetic basis of birth defects. Birth Defects Res A Clin Mol Teratol. 2015;103(8):680-691. DOI: 10.1002/bdra.23385

45. Hobbs CA, Chowdhury S, Cleves MA, et al. Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA Pediatr. 2014;168(4):371-377. DOI: 10.1001/jamapediatrics.2013.4858

46. Houk V, Oakley G Jr, Erickson JD, et al. Recommendations for the use of folic acid to reduce the number of cases of spina bifda and other neural tube defects. MMWR Recomm Rep. 1992;41(RR-14):1-7.

47. Leslie EJ, Murray JC. Evaluating rare coding variants as contributing causes to non-syndromic clef lip and palate. Clin Genet. 2013;84(5):496-500. DOI: 10.1111/cge.12018

48. Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009;18(R2):R113-129. DOI: 10.1093/hmg/ddp347

49. Gelb B, Brueckner M, Chung W, et al. Te Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res. 2013;112(4):698-706. DOI: 10.1161/CIRCRESAHA.111.300297

50. Dixon MJ, Marazita ML, Beaty TH, Murray JC. Clef lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12(3):167-178. DOI: 10.1038/nrg2933

51. Rana MS, Christoffels VM, Moorman AF. A molecular and genetic outline of cardiac morphogenesis. Acta Physiol (Oxf). 2013;207(4):588-615. DOI: 10.1111/apha.12061.

52. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013;112(4):707-720. DOI: 10.1161/CIRCRESAHA.112.300853

53. Rosa FW. Teratogenicity of isotretinoin. Lancet. 1983;2(8348):513.

54. van der Zanden LF, van Rooij IA, Feitz WF, et al. Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet. 2011;43(1):48-50. DOI: 10.1038/ng.721

55. Geller F, Feenstra B, Carstensen L, et al. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Nat Genet. 2014;46(9):957-963. DOI: 10.1038/ng.3063.

56. Birnbaum S, Ludwig KU, Reutter H, et al. Key susceptibility locus for nonsyndromic clef lip with or without clef palate on chromosome 8q24. Nat Genet. 2009;41(4):473-477. DOI: 10.1038/ng.333

57. Grant SF, Wang K, Zhang H, et al. A genome-wide association study identifes a locus for nonsyndromic clef lip with or without clef palate on 8q24. J Pediatr. 2009;155(6):909-913. DOI: 10.1016/j.jpeds.2009.06.020

58. Beaty TH, Ruczinski I, Murray JC, et al. Evidence for gene-environment interaction in a genome wide study of nonsyndromic clef palate. Genet Epidemiol. 2011;35(6):469-478. DOI: 10.1002/gepi.20595

59. Garcia-Barceló MM, Yeung MY, Miao XP, et al. Genome-wide association study identifes a susceptibility locus for biliary atresia on 10q24.2. Hum Mol Genet. 2010;19(14):2917-2925. DOI: 10.1093/hmg/ddq196

60. Mangold E, Ludwig KU, Birnbaum S, et al. Genome-wide association study identifes two susceptibility loci for nonsyndromic clef lip with or without clef palate. Nat Genet. 2010;42(1):24-26. DOI: 10.1038/ng.506

61. Olshan AF, Hobbs CA, Shaw GM. Discovery of genetic susceptibility factors for human birth defects: an opportunity for a National Agenda. Am J Med Genet A. 2011;155A(8):1794-1797. DOI: 10.1002/ajmg.a.34103

62. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-454. DOI: 10.1038/nature05329

63. Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009;10:451- 481. DOI: 10.1146/annurev.genom.9.081307.164217

64. Huisman SA, Redeker EJ, Maas SM, et al. High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet. 2013;50(5):339- 344. DOI: 10.1136/jmedgenet-2012-101477

65. Tapper WJ, Foulds N, Cross NC, et al. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. PLoS One. 2014;9(1):e86940. DOI: 10.1371/journal.pone.0086940

66. Glidewell J, Reefuis J, Rasmu ssen SA, et al. Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study — United States, 1997-2007. Genet Med. 2014;16(4):329-337. DOI: 10.1038/gim.2013.143

67. Dempfle A, Scherag A, Hein R, et al. Gene-environment interactions for complex traits: defnitions, methodological requirements and challenges. Eur J Hum Genet. 2008;16(10):1164-1172. DOI: 10.1038/ejhg.2008.106

68. Burton PR, Hansell AL, Fortier I, et al. Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol. 2009;38(1):263-273. DOI: 10.1093/ije/dyn147

69. Galea S. An argument for a consequentialist epidemiology. Am J Epidemiol. 2013;178(8):1185-1191. DOI: 10.1093/aje/kwt172

70. Horgan RP, Clancy OH, Myers JE, Baker PN. An overview of proteomic and metabolomic technologies and their application to pregnancy research. BJOG. 2009;116(2):173-181. DOI: 10.1111/j.1471-0528.2008.01997.x

71. Mitchell AA, Gilboa SM, Werler MM, et al. Medication use during pregnancy, with particular focus on prescription drugs: 1976-2008. Am J Obstet Gynecol. 2011;205(1):51.e1-51.e8. DOI: 10.1016/j.ajog.2011.02.029

72. Correa A, Marcinkevage J. Pregnancy obesity and the risk of birth defects: an update. Nutr Rev. 2013;71(Suppl 1):S68—S77. DOI: 10.1111/nure.12058

73. Davies MJ, Moore VM, Willson KJ, et al. Reproductive technologies and the risk of birth defects. N Engl J Med. 2012;366(19):1803-1813. DOI: 10.1056/NEJMoa1008095

74. Okun N, Sierra S. Pregnancy outcomes afer assisted human reproduction. J Obstet Gynaecol Can. 2014;36(1):64-83. DOI: 10.1016/S1701-2163(15)30685-X

75. Alwan S, Chambers CD. Findings from the National Birth Defects Prevention Study: interpretation and translation for the clinician. Birth Defects Res A Clin Mol Teratol. 2015;103(8):721-728. DOI: 10.1002/bdra.and23394

76. Tinker SC, Devine O, Mai C, et al. Estimate of the potential impact of folic acid fortifcation of corn masa flour on the prevention of neural tube defects. Birth Defects Res A Clin Mol Teratol. 2013;97(10):649-657. DOI: 10.1002/bdra.23158

77. Werler MM, Ahrens KA, Bosco JL, et al. Use of antiepileptic medications in pregnancy in relation to risks of birth defects. Ann Epidemiol. 2011;21(11):842-850. DOI: 10.1016/j.annepidem.2011.08.002

78. Hernandez-Diaz S, Smith CR, Shen A, et al. Comparative safety of antiepileptic drugs during pregnancy. Neurology. 2012;78(21):1692-1699. DOI: 10.1212/WNL.0b013e3182574f39

79. Shinde MU, Vuong AM, Brender JD, et al. Prenatal exposure to nitrosatable drugs, vitamin C, and risk of selected birth defects. Birth Defects Res A Clin Mol Teratol. 2013;97(8):515-531. DOI: 10.1002/bdra.23137

80. Benedum CM, Yazdy MM, Mitchell AA, Werler MM. Impact of periconceptional use of nitrosatable drugs on the risk of neural tube defects. Am J Epidemiol. 2015; 182(8):675-684. DOI: 10.1093/aje/kwv126

81. Kim GW, Lin JE, Blomain ES, Waldman SA. Antiobesity pharmacotherapy: new drugs and emerging targets. Clin Pharmacol Ter. 2014;95(1):53-66. DOI: 10.1038/clpt.2013.204

82. Adam MP, Polifa JE, Friedman JM. Evolving knowledge of the teratogenicity of medications in human pregnancy. Am J Med Genet C Semin Med Genet. 2011;157C(3):175-182. DOI: 10.1002/ajmg.c.30313

83. Centers for Disease Control and Prevention (CDC). Smoking during pregnancy--United States, 1990-2002. MMWR Morb Mortal Wkly Rep. 2004;53(39):911-915.

84. Tong VT, Dietz PM, Morrow B, et al. Trends in smoking before, during, and afer pregnancy — Pregnancy Risk Assessment Monitoring System, United States, 40 sites, 2000-2010. MMWR Surveill Summ. 2013;62(6):1-19.

85. Mokdad AH, Serdula MK, Dietz WH, et al. Te spread of the obesity epidemic in the United States, 1991-1998. JAMA. 1999;282(16):1519-1522. DOI: 10.1001/jama.282.16.1519

86. Ogden CL, Carroll MD, Kit BK, Flegal KM. Prevalence of obesity in the United States, 2009-2010. NCHS Data Brief. 2012;(82):1-8.

87. England LJ, Anderson BL, Tong VT, et al. Screening practices and attitudes of obstetricians-gynecologists toward new and emerging tobacco products. Am J Obstet Gynecol. 2014;211(6):695.e1-7. DOI: 10.1016/j.ajog.2014.05.041


Для цитирования:


Решетько О.В., Луцевич К.А. Современные аспекты эпидемиологии врождённых аномалий развития: методологические вопросы и трансляция результатов исследований в клиническую практику. Качественная клиническая практика. 2018;(3):56-65. https://doi.org/10.24411/2588-0519-2018-10051

For citation:


Reshetko O.V., Lutsevich K.V. Modern aspects of epidemiology of congenital anomalies of development: methodological issues and the translation of research fndings into clinical practice. Kachestvennaya klinicheskaya praktika. 2018;(3):56-65. (In Russ.) https://doi.org/10.24411/2588-0519-2018-10051

Просмотров: 267


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2588-0519 (Print)
ISSN 2618-8473 (Online)