出生缺陷是指胚胎由于染色体畸变、基因突变等遗传原因,或者物理、化学、生物等环境原因,或二者的交互作用所引起的先天性异常。导致出生缺陷的因素不论从环境因素、还是遗传因素等研究进展迅速,本文系统介绍出生缺陷的影响因素及其最新研究结果和主要观点,以期对出生缺陷原因有更全面的了解,进一步提出有针对性的预防干预措施。
Abstract
Birth defects refer to congenital abnormalities of embryos caused by chromosome aberration,gene mutation,or physical,chemical,biological and other environmental factors or gene-environment interaction. Influencing factors of birth defects have made rapid progress on both environmental and genetic factors. This review systematically introduces the influencing factors of birth defects as well as the latest research results and main points of view,in order to have a more comprehensive understanding of the causes of birth defects,thereby further proposing targeted preventive interventions.
关键词
出生缺陷 /
环境 /
遗传 /
交互作用
Key words
birth defects /
environment /
heredity /
interaction
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参考文献
[1] Pasinska M,Lazarczyk E,Julga K,et al. Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)[J]. BMC Medical Genomics,2018.doi:10.1186/s12920-018-0384-4.
[2] Zoha K.Novelm Utations in VANGL 1 in neural tube defects[J].Hum Mutat,2009,30(7):706-715.
[3] Moumne O,Chowdhurry R,Doll C,et al. Mechanism sharing between genetic and gestational hypoxia-induced cardiac anomalies[J]. Frontiers in Cardiovascular Medicine,2018.doi:10.3389/fcvm.2018.00100.
[4] Lin S,Lin ZQ,Qu YQ,et al. Maternal ambient heat exposure during early pregnancy in summer and spring and congenital heart defects-a large US population-based,case-control study[J]. Environ Int,2018,118:211-221.
[5] Lie RT,Wilcox AJ,Skjaerven A. A population-based study of the risk of recurrence of birth defects[J]. N Engl J Med,1994,331:1-4.
[6] Liu Z,He CH,Chen M,et al. The effects of lead and aluminum exposure on congenital heart disease and the mechanism of oxidative stress[J]. Reprod Toxicol,2018,81:93-98.
[7] Schaefer C. Drug safety in pregnancy-a particular challenge[J]. Bundes Gesundheitsblatt Gesundheitsforschung Gesundheitsschutz,2018,61(9):1129-1138.
[8] Leeper C,Lutzkanin A. Infections during pregnancy[J]. Pr imary Care,2018,45(3):567-570.
[9] Gil SM,Nicholas CS,Spence A,et al. Effect of assisted reproductive technology on the occurrence of birth defects:a population-based study[J]. Obstet Gynecol,2017,129:170-195.
[10] Yang M,Fan XB,Wu JN,et al. Association of assisted reproductive technology and multiple pregnancies with the risks of birth defects and stillbirth:a retrospective cohort study[J]. Sci Rep,2018.doi:10.1038/s41598-018-26567-2.
[11] 张康,马明月.环境因素与遗传因素及两者交互作用与出生缺陷发生的关系[J]. 沈阳医学院学报,2017,19(6):514-518.
[12] Carpenter DO. Polychlorinated biphenyls (PCBs): routes of exposure and effects on human health[J]. Ev Environ Health,2006,21(1):1-23.
[13] Zlatnik MG. Endocrine-disrupting chemicals and reproductive health[J]. J Midwifery Womens Health,2016,61(4):442-455.
[14] Perry M,Mulcahy H,De Franco E. Influence of periconception smoking behavior on birth defect risk[J]. Obstet Gynecol,2017,129(5):15-25.
[15] Hao W,Chen HH,Su ZH. China:alcohol today [J] . Addiction,2005,100(6):737-741.
[16] Bailey BA,Sokol RJ. Pregnancy and alcohol use:evidence and recommendations for prenatal care [J].Clin Obstet Gynecol,2008,51(2):436-444.
[17] Liu XQ,Nie ZQ,Chen JM,et al. Does maternal environmental tobacco smoke interact with social-demographics and environmental factors on congenital heart defects?[J]. Environ Pollu,2018,234:214-222.
[18] Van Gool JD,Hirche H,Lax H,et al. Folic acid and primary prevention of neural tube defects:a review[J]. Reprod Toxicol,2018,80:73-84.
[19] Ramakrishnan U,Imhoff-Kunsch B,Martorell R. Maternal nutrition interventions to improve maternal,newborn,and child health outcomes[J]. Nestle Nutr Inst Workshop Ser,2014,78:71-80.
[20] 朱鹏飞,张翼,班婕,等.中国空气污染与不良出生结局的研究进展[J].中华流行病学杂志,2017,38(3):393-399.
[21] Marta W. The potential influence of maternal stress hormones on development and mental health of the offspring [J].Brain Behav Immun,2005,19(4):296-308.
[22] Yuan Y,Chen WC,Ma XJ,et al. Pedigree-based analysis of inherited and noninherited risk factors of congenital heart defects[J]. Early Hum Dev,2015,91(12):713-718.
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