Fahy M, Robbins C, Bloch M, Turnell R W, Hayden M R
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
J Med Genet. 1989 Jun;26(6):353-7. doi: 10.1136/jmg.26.6.353.
The discovery of DNA markers closely linked to the gene for Huntington's disease (HD) has allowed development of predictive and prenatal testing programmes for HD. This report describes four different approaches to prenatal testing for HD which have arisen during a pilot predictive and prenatal testing program in British Columbia, Canada. In the first approach (exclusion testing), the at risk parent cannot or prefers not to learn of his/her HD status. Two other approaches involve definitive testing of a fetus when a parent is determined to be at increased risk to have inherited the HD gene or is affected with Huntington's disease. The fourth approach is a stepwise combination of the above two methods which we refer to as 'exclusion-definitive' testing. These different approaches introduce a variety of challenging counselling and ethical issues. The role of each approach to prenatal testing in the management of Huntington's disease awaits the results of this and other predictive and prenatal testing programmes.
与亨廷顿舞蹈病（HD）基因紧密连锁的DNA标记的发现，使得HD的预测性检测和产前检测项目得以开展。本报告描述了在加拿大不列颠哥伦比亚省进行的一项预测性和产前检测试点项目中出现的四种不同的HD产前检测方法。在第一种方法（排除检测）中，高危父母无法或不愿意了解其HD状态。另外两种方法涉及当确定父母一方有更高风险遗传了HD基因或患有亨廷顿舞蹈病时，对胎儿进行确定性检测。第四种方法是上述两种方法的逐步结合，我们称之为“排除-确定性”检测。这些不同的方法带来了各种具有挑战性的咨询和伦理问题。每种产前检测方法在亨廷顿舞蹈病管理中的作用有待本项目及其他预测性和产前检测项目的结果。
