Norman A M, Rogers C, Sibert J R, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
J Med Genet. 1989 Sep;26(9):560-4. doi: 10.1136/jmg.26.9.560.
A register of families with Duchenne muscular dystrophy (DMD) in Wales was set up in 1973 and has been regularly maintained ever since. All women at significant risk in these families were offered estimation of their carrier status by creatine kinase and pedigree analysis. A total of 225 of the 512 women tested was assigned a risk of carrying the DMD gene of less than 5%. One hundred and twenty live births from this group were notified to the register and only one was an affected male. This was the expected number and shows that the risks given were largely accurate. Women given a risk of 5% or greater were offered fetal sexing with termination of any male. Amniocentesis was of limited value and chorionic villus sampling, introduced in 1984, was acceptable to more women at risk. The incidence of DMD in Wales dropped from one in 3435 at the beginning of the study to one in 4046 by 1982, and the proportion of recurrent cases from 40% to 22%. Common reasons for recurrence were birth of a second affected boy before diagnosis of the first, and failure of families with affected dead members in previous generations to be notified to the register. Maintaining an accurate register of DMD families is an essential tool in their management.
威尔士于1973年建立了杜氏肌营养不良症（DMD）家庭登记册，此后一直定期维护。通过肌酸激酶和系谱分析，为这些家庭中所有有重大风险的女性提供了携带者状态评估。在接受检测的512名女性中，共有225名被判定携带DMD基因的风险低于5%。该组中有120例活产儿被通知登记在册，只有1例是患病男性。这是预期的数字，表明所给出的风险在很大程度上是准确的。对于被判定风险为5%或更高的女性，提供了胎儿性别鉴定，若为男性则终止妊娠。羊膜穿刺术价值有限，1984年引入的绒毛取样被更多有风险的女性所接受。威尔士DMD的发病率从研究开始时的3435分之一降至1982年的4046分之一，复发病例的比例从40%降至22%。复发的常见原因是在第一个患病男孩被诊断之前又出生了第二个患病男孩，以及前几代有患病死亡成员的家庭未被通知登记在册。维护DMD家庭的准确登记册是其管理的重要工具。
