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[唐氏综合征产前筛查的伦理问题]

[Ethical aspects of prenatal screening for Down's syndrome].

作者信息

Tóth A, Szabó J

机构信息

Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Szent-Györgyi Albert Orvos- és Gyógyszerésztudományi Centrum.

出版信息

Orv Hetil. 2000 Oct 15;141(42):2293-8.

Abstract

Trisomy 21, the chromosomal base of Down's syndrome, results in severe mental and physical handicap. Owing to the development of medical genetics reliable screening and diagnostic procedures for the detection of the disorder are available in Hungary. To achieve the goals of prenatal screening it is important to address the main ethical issues arising through the application of technical-professional skills. The core objective of prenatal screening for Down's syndrome is to give information about the genetic condition of the fetus in order to enhance the autonomy of the parents in family planning. Screening programs should respect the ethical requirements of the principles of "do no harm", beneficence and autonomy of the patients, which are the most important ethical norms of doctor-patient relationship. Regarding the social aspects of screening it is essential to claim that voluntary participation and nondirective genetic counselling can exclude eugenic purposes. Though introduction of prenatal tests does not imply the discrimination of the disabled, anxiety of handicapped people deserves more attention. Abortion of affected fetuses isn't among the objectives of prenatal genetic screening but patient's autonomy is supported in decisions concerning the future of the pregnancy. Social justice can be taken into consideration by providing the test to all women without respect to their social position, educational level or their age. An open debate about the issues of prenatal screening for Down's syndrome could promote the formation of a consensus between professionals and the public.

摘要

21三体综合征是唐氏综合征的染色体基础,会导致严重的智力和身体残疾。由于医学遗传学的发展,匈牙利已有用于检测该病症的可靠筛查和诊断程序。为实现产前筛查的目标,解决因应用技术专业技能而产生的主要伦理问题很重要。唐氏综合征产前筛查的核心目标是提供有关胎儿遗传状况的信息,以增强父母在计划生育方面的自主权。筛查项目应尊重“不伤害”、行善和患者自主权原则的伦理要求,这些是医患关系中最重要的伦理规范。关于筛查的社会层面,必须强调自愿参与和非指导性遗传咨询可以排除优生目的。虽然引入产前检测并不意味着对残疾人的歧视,但残疾人的焦虑值得更多关注。对受影响胎儿进行流产并非产前基因筛查的目标之一,但在有关妊娠未来的决策中支持患者的自主权。通过向所有女性提供检测,而不考虑她们的社会地位、教育水平或年龄,可以考虑社会公平。关于唐氏综合征产前筛查问题的公开辩论可以促进专业人员和公众之间达成共识。

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