Roberts Theresa, Schwarz Martin J, Kerr-Liddell Rowan, Hinks Joanna L, Super Maurice
Department of Clinical Genetics, Royal Manchester Children's Hospital, Manchester, UK.
Paediatr Respir Rev. 2003 Dec;4(4):293-8.
It is good medical practice to offer carrier tests and counselling to the relatives of those affected by recessive disorders. Many are concerned about their own chances of having affected offspring. Cystic fibrosis carrier tests have been feasible since the discovery of the gene in 1989. It was generally agreed that although population screening was not practical, testing should be offered to relatives and their partners. There is evidence that such offers have not always been made and relatives have sometimes found it difficult to be tested. An active cascade programme of the counselling and testing of cystic fibrosis patients' relatives and their partners has operated from Royal Manchester Children's Hospital since 1993. The service operates with dedicated staff, backed up by a specialist cystic fibrosis molecular genetics laboratory and a specialist genetic counselling service. The main target groups are couples or individuals of child-bearing age. There is discouragement of the testing of young children and of grandparents beyond reproductive age, although, if parents or individuals are insistent, testing is often performed, after counselling. An audit of users has shown satisfaction, very few feeling that they were pressured into having the tests. The experience of other centres with cascade-testing in cystic fibrosis is summarised. Cascades can start whenever a sufferer or carrier is identified, although care should be exercised in instituting active cascades in the extended families of newborns identified as carriers in neonatal screening programmes.
为隐性疾病患者的亲属提供携带者检测和咨询是良好的医疗实践。许多人担心自己生育患病后代的几率。自1989年发现该基因以来，囊性纤维化携带者检测已切实可行。人们普遍认为，尽管群体筛查不切实际，但应向亲属及其伴侣提供检测。有证据表明，这种检测并非总是能提供，亲属有时会发现检测很困难。自1993年以来，皇家曼彻斯特儿童医院一直在开展一项针对囊性纤维化患者亲属及其伴侣的积极的级联咨询和检测项目。该服务由专业人员提供，有一个专门的囊性纤维化分子遗传学实验室和专业的遗传咨询服务作为后盾。主要目标群体是育龄夫妇或个人。不鼓励对幼儿和超过生育年龄的祖父母进行检测，不过，如果父母或个人坚持，在咨询后通常会进行检测。对用户的一项审计显示他们感到满意，很少有人觉得自己是被迫进行检测的。总结了其他中心在囊性纤维化级联检测方面的经验。无论何时确定了患者或携带者，级联检测都可以启动，不过，在新生儿筛查项目中确定为携带者的新生儿的大家庭中启动积极的级联检测时应谨慎行事。
