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遗传测试和遗传咨询 被引量:2

Genetic testing and genetic consultation
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摘要 遗传物质的突变,包括基因突变或染色体畸变,是遗传病发生的根源,也是区别于其他疾病的基本特点。大力开展遗传测试及筛查,及时检出遗传病患者及致病基因携带者,是提高人口素质,促进家庭幸福、社会繁荣、国家昌盛的唯一可行的方法。遗传咨询对于检出遗传病患者及致病基因携带者,并进行有效、可行的婚姻指导、生育指导,以减少或防止遗传病患儿的发生和发病,发挥着相当重要的作用。在产前诊断中涉及疾病胎儿处理的道德选择问题上,遵循四项基本准则:第一,尊重夫妇双方的选择;第二,对个人和家庭不产生伤害;第三,产前诊断的结果可靠;第四,产前诊断和遗传咨询的自愿性。这些准则无疑在世界各国有着共同性。 the mutation genetic material,including genetic mutations or chromosome aberration,is the source of genetic disease happen,is also different from other diseases of the basic characteristics.Vigorously developing test and genetic screening,timely detection genetic disease patients and virulence genes carriers,is the only feasible method to improve population quality,promote a happy family,social prosperity,prosperous country.Genetic counseling for detection genetic disease patients and virulence genes carriers,and effective and feasible marriage guidance,birth guidance,play an important role in reducing the birth of the sick children and preventing the happening of the disease of children.In prenatal diagnosis of the fetus involved in disease treatment of moral choice in the problem,follow the four basic principles: first,respect the couple’s choice;second,don’t damage the individual and family;third,reliable prenatal diagnosis results;fourth,voluntary prenatal diagnosis and genetic counseling.These standards in all countries of the world have undoubtedly commonalities.
作者 郁凯明
出处 《生命科学》 CSCD 2012年第11期1277-1282,共6页 Chinese Bulletin of Life Sciences
关键词 遗传疾病 遗传测试 遗传咨询 伦理 genetic diseases genetic testing genetic counseling ethic
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参考文献7

  • 1Wald N J, Kennard A, Hackshaw A, et al. Antenatal screening for Down's syndrome. J Med Screen, 1997, 4: 181-240.
  • 2Parker LS, Majeske RA. Standards of care and ethical concerns in genetic testing and screening. Clin Obstr Gynecol, 1996, 39(4): 873.
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  • 6郁凯明.医学伦理学在产前遗传咨询中的应用探讨[J].科学,2004,56(2):24-26. 被引量:2
  • 7Milunsky A. Genetic disorders and the fetus[M].New York: Plenum Publishing Corp, 1986: 819.

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