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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