Plauchu H, Cordier M P, Carrier H N, Dellamonica C, Dorche C, Guibaud P, Lauras B, Cotte J, Robert J M
Service de Génétique, Hôtel-Dieu, Lyon.
J Genet Hum. 1987 Aug;35(4):217-30.
Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.
在罗纳-阿尔卑斯地区的一部分(每年40000名新生儿),利用血清肌酸激酶水平测量对杜氏肌营养不良进行新生儿筛查已经开展了10年。这项检测通过早期遗传咨询避免了患病家庭出现连续病例。因此,已避免了10名潜在的杜氏肌营养不良男孩出生(即在这十年研究期间预计出生的杜氏肌营养不良患儿总数中,每五个中有一个)。文中给出了家族结构和遗传咨询效果的详细信息,并且通过对相关家庭进行DNA研究,这种效果将会得到提高。