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[遗传咨询与人类残疾]

[Genetic counselling and human handicap].

作者信息

Rett A

出版信息

Wien Klin Wochenschr. 1982 Jun 11;94(12):315-7.

PMID:6214893
Abstract

Nowadays a responsible health policy cannot exist without a human genetics counselling service which is both scientifically founded and freely accessible to the whole population. Human genetics counselling is concerned with the application of knowledge of the causes of congenital developmental disturbances such as chromosomal aberrations, genetic defects and metabolic disorders to medical practice. However, the early diagnosis of a chromosomal aberration by means of amniocentesis directly intervenes in the life of a woman and the existence of the embryo, leading, in turn, to a decision-making process which is influenced by a variety of factors on the part of the woman and on the part of the physician. The counselling physician will be influenced by his own medical experience, his ethical views, and his knowledge of the social, physical, psychological and educational problems arising in the case of developmental disturbances. His personal style of counselling and his sensitivity and receptivity in dealing with the problems of the individual patient will determine the weight of his advice. Modern human genetics, if optimally applied, can change the whole scene of handicap by limiting congenital developmental disturbances on the basis of an understanding of the underlying causation obtained by comprehensive investigation. Only then can patients be adequately counselled and prevention become possible.

摘要

如今,一项负责任的健康政策离不开一项科学合理且全体民众均可免费获得的人类遗传学咨询服务。人类遗传学咨询涉及将先天性发育障碍(如染色体畸变、基因缺陷和代谢紊乱)的病因知识应用于医疗实践。然而,通过羊膜穿刺术对染色体畸变进行早期诊断会直接干预女性的生活以及胚胎的存续,进而引发一个决策过程,这一过程会受到女性和医生方面各种因素的影响。咨询医生会受到自身医疗经验、伦理观念以及对发育障碍病例中出现的社会、身体、心理和教育问题的了解程度的影响。他个人的咨询风格以及处理个体患者问题时的敏感度和接受能力将决定其建议的分量。如果得到最佳应用,现代人类遗传学可以通过基于全面调查所获得的潜在病因的理解来限制先天性发育障碍,从而改变整个残疾状况。只有这样,才能为患者提供充分的咨询并实现预防。

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