一个大家族中的马凡综合征：家庭成员对筛查项目的反应
Marfan syndrome in a large family: response of family members to a screening programme.
作者信息
Bridges A B, Faed M, Boxer M, Gray J R, Bundy C, Murray A
机构信息
Department of Medicine, University of Dundee, Ninewells Hospital and Medical School.
出版信息
J Med Genet. 1992 Feb;29(2):81-5. doi: 10.1136/jmg.29.2.81.
Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome attended for both questionnaires. All patients claimed to be satisfied with the way they were informed of the results of screening; 41% of patients were more worried about their health and 48% were more worried about the future after diagnosis. Apart from 50% of the smokers reducing or stopping their intake of cigarettes there were only very minor changes in lifestyle over the first month despite the increased level of expressed anxiety. If a definitive screening test was available, 96% of patients claimed they would have chosen it, 45% felt it would have an influence on their future plans, and 78% would choose to use a method of prenatal diagnosis for Marfan syndrome if it were available.
通过两份问卷对马凡氏综合征的医学、社会和遗传影响的反应进行了评估，第一份问卷在诊断讨论前的各项检查之后进行，第二份问卷在对患者诊断进行充分讨论之后进行。已知有马凡氏综合征风险的一个家族的37名成员参加了这两份问卷调查。所有患者均表示对告知他们筛查结果的方式感到满意；41%的患者对自己的健康更加担忧，48%的患者在诊断后对未来更加担忧。除了50%的吸烟者减少或停止吸烟外，尽管焦虑情绪有所增加，但在第一个月里生活方式仅有非常小的变化。如果有确定的筛查测试，96%的患者声称他们会选择它，45%的患者认为这会对他们未来的计划产生影响，78%的患者会选择在有可用方法时使用马凡氏综合征的产前诊断方法。
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