杜氏肌营养不良症新生儿筛查的可行性
Feasibility of neonatal screening for Duchenne muscular dystrophy.
作者信息
Skinner R, Emery A E, Scheuerbrandt G, Syme J
出版信息
J Med Genet. 1982 Feb;19(1):1-3. doi: 10.1136/jmg.19.1.1.
Abstract
During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This study confirms that neonatal screening for Duchenne muscular dystrophy is feasible in a British hospital setting and is here most conveniently carried out on the 5th day of life along with routine testing for phenylketonuria.
摘要
在1976年11月至1980年9月期间，爱丁堡一家医院出生的2703名婴儿在新生儿期通过检测血清肌酸激酶水平来筛查杜氏肌营养不良症。在接受检测的2336名男婴中，没有一例被证实患病，只有16名婴儿需要再次采集样本。总体而言，该研究中的假阳性率为0.78%。这项研究证实，在英国医院环境中对杜氏肌营养不良症进行新生儿筛查是可行的，而且在这里最方便在出生后第5天与苯丙酮尿症的常规检测一起进行。
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