Markel D S, Young A B, Penney J B
Am J Med Genet. 1987 Feb;26(2):295-305. doi: 10.1002/ajmg.1320260207.
One hundred fifty-five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteristics, experience with HD, and attitudes toward presymptomatic and prenatal testing in HD. About two-thirds (63.2%) of the persons indicated they would take a presymptomatic test even if no specific treatment was available. Although one-half (49%) of the respondents stated they would make use of a prenatal test, only 43% of these individuals would decide to terminate a heterozygous fetus. Presymptomatic test results indicating carrier status would influence some of the respondents' decisions about marriage and childbearing. This strong interest of at-risk persons to make use of both presymptomatic and prenatal diagnosis in HD indicates the need for well-organized testing programs. These programs must be designed to address the genetic, psychosocial, and ethical issues that may arise in the use of this type of genetic test.
155名有50%几率遗传亨廷顿舞蹈症(HD)的个体接受了问卷调查,内容涉及他们的社会人口学特征、HD经历以及对HD症状前检测和产前检测的态度。约三分之二(63.2%)的人表示,即使没有特定治疗方法,他们也会接受症状前检测。尽管一半(49%)的受访者表示会使用产前检测,但这些人中只有43%会决定终止携带杂合子基因的胎儿。症状前检测结果显示携带者状态会影响一些受访者关于婚姻和生育的决定。高危人群对HD症状前检测和产前诊断的强烈兴趣表明需要组织完善的检测项目。这些项目必须设计用于解决使用此类基因检测可能出现的遗传、心理社会和伦理问题。