唐氏综合征筛查是不道德的：当今研究伦理委员会的观点。

Down's syndrome screening is unethical: views of today's research ethics committees.

作者信息

Reynolds T M

机构信息

Clinical Chemistry Department, Queen's Hospital, Burton on Trent, Staffordshire, UK.

出版信息

J Clin Pathol. 2003 Apr;56(4):268-70. doi: 10.1136/jcp.56.4.268.

DOI:10.1136/jcp.56.4.268

PMID:12663637

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1769927/

Abstract

BACKGROUND

Screening for Down's syndrome forms part of routine obstetric practice. Ethical considerations relating to genetic screening form a major part of the workload of research ethics committees. This study investigated the attitudes of research ethics committee members to several conditions varying in clinical severity and prognosis, including Down's syndrome.

METHODS

The members of 40 randomly chosen research ethics committees were surveyed. A simple questionnaire comprising 19 clinical scenarios based around four "clinical" conditions was designed to review conditions that were potentially embarrassing, affecting life span but not mental ability, premature death, and intellectual impairment with a risk of neonatal cardiac defects (Down's syndrome). Screening tests with different degrees of effectiveness were described and the diagnostic test descriptions ranged from having no risk to an unaffected fetus to causing spontaneous abortion of two normal fetuses for each affected fetus identified. Replies were graded on a scale of 1 to 5.

RESULTS

Seventy seven replies were received from 28 different research ethics committees. Screening was supported for treatment of a life threatening condition (95% in favour) but screening for conditions of a slight increase in premature death (14% in favour) or cosmetic features (10% in favour) were considered unethical. Views were ambiguous (49% in favour) about conditions involving significant shortening of lifespan. Down's syndrome screening was considered more ethical when described as a serious condition (56% in favour) than when the clinical features were described (44% in favour). Once increased rates of spontaneous abortion on confirmatory testing were added, 79% (21% in favour) and 86% (14% in favour) stated that screening was unethical (for "serious" and "clinical features" descriptions, respectively).

CONCLUSIONS

Down's syndrome screening raises ethical concerns about genetic testing in general that need to be dealt with before the introduction of any prenatal screening test.

摘要

背景

唐氏综合征筛查是常规产科实践的一部分。与基因筛查相关的伦理考量是研究伦理委员会工作量的主要组成部分。本研究调查了研究伦理委员会成员对几种临床严重程度和预后不同的疾病的态度，包括唐氏综合征。

方法

对随机选取的40个研究伦理委员会的成员进行了调查。设计了一份简单问卷，包含围绕四种“临床”疾病的19个临床场景，以审查可能令人尴尬、影响寿命但不影响智力、过早死亡以及伴有新生儿心脏缺陷风险（唐氏综合征）的智力障碍等情况。描述了不同有效性程度的筛查测试，诊断测试描述从对未受影响的胎儿无风险到每识别出一个受影响的胎儿会导致两个正常胎儿自然流产。回答按1至5分进行评分。

结果

从28个不同的研究伦理委员会收到了77份回复。对于治疗危及生命的疾病的筛查得到支持（95%赞成），但对于过早死亡略有增加的情况（14%赞成）或外观特征（10%赞成）的筛查被认为是不道德的。对于涉及寿命显著缩短的情况，观点不明确（49%赞成）。当唐氏综合征筛查被描述为一种严重疾病时（56%赞成），比描述临床特征时（44%赞成）被认为更符合伦理。一旦在确诊测试中增加自然流产率，分别有79%（21%赞成）和86%（14%赞成）表示筛查是不道德的（分别针对“严重”和“临床特征”描述）。