Simpson Sheila A, Zoeteweij Moniek W, Nys Kurt, Harper Peter, Dürr Alexandra, Jacopini Gioia, Yapijakis Christos, Evers-Kiebooms Gerry
Clinical Genetics: ForesterHill, Aberdeen, UK.
Eur J Hum Genet. 2002 Nov;10(11):689-93. doi: 10.1038/sj.ejhg.5200871.
This European study involving seven genetic centres from six countries - Aberdeen, Cardiff (UK), Leiden (Netherlands), Leuven (Belgium), Paris (France), Rome (Italy), Athens (Greece) has gathered information on prenatal testing by direct mutation analysis and exclusion testing for Huntington's disease (HD) from the six European countries during the period 1993-1998. Data describing the parent belonging to the HD family was collected; this included their sex and age as well as their risk of developing HD. Information about previous pregnancies, the rank of the pregnancy being tested and its outcome was also gathered. In addition the number of previous prenatal tests for HD was recorded. Three hundred and five results were recorded by the participating countries between 1993 and 1998. The largest groups came from the UK (157) and the Netherlands (90). The mean age for the parent from the HD family was 30.8 years. In half of the tests the prospective parent was an asymptomatic gene carrier, 42% remained at risk, and 6% of the prospective parents were already showing clinical features of HD. 65% of tests performed used mutation analysis.
这项欧洲研究涉及来自六个国家的七个基因中心——阿伯丁、加的夫（英国）、莱顿（荷兰）、鲁汶（比利时）、巴黎（法国）、罗马（意大利）、雅典（希腊），收集了1993年至1998年期间六个欧洲国家通过直接突变分析和排除检测进行亨廷顿舞蹈病（HD）产前检测的信息。收集了描述HD家族中父母的资料；这包括他们的性别、年龄以及患HD的风险。还收集了关于既往妊娠情况、本次检测妊娠的序号及其结果的信息。此外，还记录了既往HD产前检测的次数。1993年至1998年期间，参与国家记录了305例检测结果。最大的群体来自英国（157例）和荷兰（90例）。HD家族中父母的平均年龄为30.8岁。在一半的检测中，准父母是无症状基因携带者，42%仍有患病风险，6%的准父母已表现出HD的临床特征。65%的检测采用了突变分析。
