宫内胎儿肌肉活检可改变杜氏和贝克型肌营养不良症的诊断及携带者风险。
In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy.
作者信息
Evans M I, Krivchenia E L, Johnson M P, Quintero R A, King M, Pegoraro E, Hoffman E P
机构信息
Department of Obstetrics and Gynecology, Hutzel Hospital/Wayne State University School of Medicine, Detroit 48201, USA.
出版信息
Fetal Diagn Ther. 1995 Mar-Apr;10(2):71-5. doi: 10.1159/000264206.
OBJECTIVES
We have previously shown that Duchenne muscular dystrophy (DMD) can be diagnosed by fetal muscle biopsy and immunohistochemical staining showing the absence of dystrophin. In Becker muscular dystrophy (BMD), there is a variable dystrophin staining pattern.
STUDY DESIGN
A 26-year-old, gravida 5, para 1, SAB 2, VIP 1, white female had a son with the diagnosis of BMD, with no other affected family members. In the current pregnancy, the male fetus inherited the same X chromosome.
RESULTS
Fetal muscle biopsy revealed no dystrophin, consistent with the diagnosis of DMD, prompting re-analysis of the sibling whose diagnosis was then changed to DMD.
CONCLUSIONS
Molecular techniques in prenatal diagnosis in this case not only led to the diagnosis of a severe disorder in the current pregnancy, but changed the diagnosis in another child, allowing for more appropriate counseling of this couple.
目的
我们之前已经表明，杜氏肌营养不良症（DMD）可通过胎儿肌肉活检及免疫组织化学染色显示肌营养不良蛋白缺失来诊断。在贝克肌营养不良症（BMD）中，肌营养不良蛋白染色模式存在差异。
研究设计
一名26岁、孕5产1、流产2次、现存1名子女的白人女性，其儿子被诊断为BMD，家族中无其他患病成员。在此次妊娠中，男性胎儿继承了相同的X染色体。
结果
胎儿肌肉活检显示无肌营养不良蛋白，符合DMD的诊断，促使对其同胞进行重新分析，其诊断随后改为DMD。
结论
该病例的产前诊断分子技术不仅在此次妊娠中诊断出一种严重疾病，还改变了另一名儿童的诊断，从而能为这对夫妇提供更合适的咨询。
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