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亨廷顿病高危人群对预测性检测的态度。

Attitudes of persons at risk for Huntington disease toward predictive testing.

作者信息

Kessler S, Field T, Worth L, Mosbarger H

出版信息

Am J Med Genet. 1987 Feb;26(2):259-70. doi: 10.1002/ajmg.1320260204.

Abstract

Attitudes of 69 persons at risk for Huntington disease (HD) were obtained by means of semistructured interviews and questionnaires. About 79% of the individuals said that they would use a presymptomatic predictive test if it were available. All believed that the test should be made available even though there was no cure for HD. Nearly 2/3 of subjects would use the test for prenatal diagnosis, and of these 71% would terminate a pregnancy if the fetus was found to carry the HD gene. Most subjects believed that pretest counseling should be mandatory and many said that testing should be withheld from persons who were psychologically unstable or were threatening self-harm. The data suggest that about 2-6% of persons at risk for HD may have severe psychiatric or suicidal responses to a positive outcome of predictive testing. This underscores the need for adequate pretest counseling and the availability of professional and community resources to deal with the impact of predictive testing on individuals and their relatives.

摘要

通过半结构化访谈和问卷调查,了解了69名亨廷顿舞蹈症(HD)高危人群的态度。约79%的人表示,如果有症状前预测性检测,他们会使用。所有人都认为即使HD无法治愈,也应该提供这种检测。近三分之二的受试者会将该检测用于产前诊断,其中71%表示如果发现胎儿携带HD基因,会终止妊娠。大多数受试者认为检测前咨询应是强制性的,许多人表示对于心理不稳定或有自残倾向的人不应进行检测。数据表明,约2 - 6%的HD高危人群可能会因预测性检测结果呈阳性而出现严重的精神或自杀反应。这凸显了进行充分检测前咨询的必要性,以及提供专业和社区资源以应对预测性检测对个人及其亲属影响的重要性。

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