Evans M I, Hoffman E P, Cadrin C, Johnson M P, Quintero R A, Golbus M S
Department of Obstetrics and Gynecology, Hutzel Hospital/Wayne State University School of Medicine, Detroit, Michigan.
Obstet Gynecol. 1994 Dec;84(6):913-7.
To develop a fetal muscle biopsy technique for immunohistochemical diagnosis of Duchenne and Becker muscular dystrophies.
Data from two clinical centers and one reference laboratory were combined to show 12 completed cases, ten at risk for Duchenne muscular dystrophy, one for Becker muscular dystrophy, and one for mitochondrial myopathy. Samples of fetal gluteal muscle were obtained percutaneously under ultrasound guidance (some with endoscopic assistance) with a biopsy gun. The samples were frozen and assayed for dystrophin by immunohistochemical techniques.
Samples were obtained in 11 of 12 (92%) cases, and spontaneous abortion after the procedure occurred in two of 12 (17%) cases. Laboratory diagnoses were possible on small samples, and four of 12 fetuses (33%) were affected. Endoscopy with direct visualization might aid in the procedure.
The development of fetal muscle biopsy allows for an expansion of the diagnostic possibilities for myopathies. The experiences of our two clinical centers show that the procedure can be done with accuracy and acceptable safety. The evolving laboratory experience has reduced the amount of tissue necessary for the diagnosis, increased the sophistication of the immunohistochemical analysis, allowed the diagnosis of abnormalities in different parts of the dystrophin gene, and expanded the indications for the use of fetal muscle biopsy. Fetal muscle biopsy can be used successfully for the diagnosis in otherwise uninformative cases, and there is a wide variety of indications beyond traditional Duchenne muscular dystrophy possible, including female fetuses at risk because of X-autosomal translocations.
开发一种用于杜氏和贝克型肌营养不良症免疫组织化学诊断的胎儿肌肉活检技术。
合并来自两个临床中心和一个参考实验室的数据，以展示12例完整病例，其中10例有患杜氏肌营养不良症的风险，1例有患贝克型肌营养不良症的风险，1例有患线粒体肌病的风险。在超声引导下经皮（部分在内镜辅助下）使用活检枪获取胎儿臀肌样本。样本冷冻后采用免疫组织化学技术检测肌营养不良蛋白。
12例中有11例（92%）成功获取样本，术后有2例（17%）发生自然流产。小样本即可进行实验室诊断，12例胎儿中有4例（33%）患病。直接可视化的内镜检查可能有助于该操作。
胎儿肌肉活检技术的发展扩大了肌病的诊断可能性。我们两个临床中心的经验表明，该操作可以准确完成且安全性可接受。不断发展的实验室经验减少了诊断所需的组织量，提高了免疫组织化学分析的精细程度，能够诊断肌营养不良蛋白基因不同部位的异常，扩大了胎儿肌肉活检的应用指征。胎儿肌肉活检可成功用于诊断其他情况下无法提供信息的病例，除了传统的杜氏肌营养不良症外，还有多种应用指征，包括因X - 常染色体易位而有风险的女性胎儿。
