Brock D J
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Eur J Hum Genet. 1995;3(1):2-13. doi: 10.1159/000472268.
In the 5 years since the cloning of the cystic fibrosis (CF) gene, several experimental trials of CF carrier screening have been performed and reported. Two particular groups have been targetted: young adults near reproductive age, and pregnant women. The three trials directed at young adults have shown that the method of presentation is a major determinant of take-up rates; an offer of screening by personal intervention gives high acceptance while an offer by mail or leaflet produces disappointing results. There is a strong suggestion that screening is being foisted on an unreceptive group, whose response is one of politeness rather than conviction--'supply push' rather than 'demand pull'. Trials of screening during pregnancy have been more extensive and more satisfactory. Two models have been tested. In sequential delivery, women are screened first and their partners only tested when they are found positive for CF alleles. This can lead to anxiety, during the period while positive women await their partner's result. In couple screening both partners agree to be treated as a unit and reported as high risk only when both are positive. In other situations they are regarded as negative. Couple screening has turned out to be remarkably efficient, trouble-free and consumer-friendly, and has become the method of choice for integration into routine health care.
自囊性纤维化（CF）基因被克隆以来的5年里，已经开展并报告了多项CF携带者筛查的实验性试验。有两个特定群体成为目标对象：接近生育年龄的年轻人和孕妇。针对年轻人的三项试验表明，宣传方式是接受率的一个主要决定因素；通过个人干预提供筛查的接受度很高，而通过邮件或传单提供筛查的结果则令人失望。有强烈迹象表明，筛查是强加给一个不接受的群体，他们的反应是出于礼貌而非信服——是“供应推动”而非“需求拉动”。孕期筛查试验更为广泛且更令人满意。测试了两种模式。在序贯检测中，先对女性进行筛查，只有当她们被检测出CF等位基因呈阳性时，才对其伴侣进行检测。这可能会在检测结果呈阳性的女性等待其伴侣结果的期间导致焦虑。在夫妇联合检测中，双方同意作为一个整体接受检测，只有当双方都呈阳性时才被报告为高风险。在其他情况下，他们被视为阴性。夫妇联合检测已证明非常高效、无问题且对消费者友好，已成为纳入常规医疗保健的首选方法。
