【摘要】 假性肥大型肌营养不良症(DMD)是一种严重伴性遗传病,产前诊断的方法只能检查胎儿性别,将男胎流产。本文报告了用取胎儿肌活检诊断DMD胎儿的一例成功经验,为产前诊断胎儿神经肌病开辟一条途径。更多还原

【Abstract】 There is now good evidence of histological alnormalities being detectable in the mus cle from a proportion of fetus at high risk of having Duchennes muscular dystrophy (DMD). Therefore it is desirable to looking for a technique of antenatal diagnosis to detect the pathological change of fetal muscle. The present report describes a successful experience in an affected fetus diagnosed by fetal muscle biopsy under the guidance of fetoscopy. The histological examination confirmed the diagnosis. The fetus was aborted. The muscle of aborted fetus was reexamined and shown typical histological changes of DMD.更多还原