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In utero Fetal Muscle Biopsy Alters Diagnosis and Carrier Risks in Duchenne and Becker Muscular Dystrophy

 

作者: Mark I. Evans,   Erich.L Krivchenia,   Mark P. Johnson,   Ruben A. Quintero,   Mary King,   Elena Pegoraro,   Eric P. Hoffman,  

 

期刊: Fetal Diagnosis and Therapy  (Karger Available online 1995)
卷期: Volume 10, issue 2  

页码: 71-75

 

ISSN:1015-3837

 

年代: 1995

 

DOI:10.1159/000264206

 

出版商: S. Karger AG

 

关键词: Duchenne muscular dystrophy;Becker muscular dystrophy;In utero fetal muscle biopsy;Prenatal diagnosis;Molecular analysis

 

数据来源: Karger

 

摘要:

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 reanalysis 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.

 

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