Document Detail

Utility of fetal muscle biopsy for diagnosis of nemaline myopathy.
MedLine Citation:
PMID:  18987477     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal muscle biopsy. METHODS: A consanguineous couple, with a history of a child with a clinical diagnosis of NM but no molecular genetic confirmation, was referred for prenatal diagnosis in two subsequent pregnancies. Fetal muscle biopsy with ultrasound guidance was undertaken at 22 and 21 weeks, respectively. RESULTS: Immunohistochemical and ultrastructural analysis of the fetal muscle specimen from the first 'at-risk' pregnancy was consistent with a diagnosis of NM and that pregnancy was terminated. Analysis of the fetal muscle specimen from the subsequent pregnancy revealed no pathologic abnormality. The pregnancy continued, and the child is unaffected. CONCLUSION: This represents the first reported prenatal diagnosis of NM by fetal muscle biopsy. Pathologic changes characteristic of NM can be identified in mid-second trimester fetal muscle.
Stefanie B Kasperski; Allison M Brennan; Jane E Corteville; Richard S Finkel; Jeff Golden; Mark P Johnson; R Douglas Wilson
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-11-06
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  24     ISSN:  1421-9964     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:  2008  
Date Detail:
Created Date:  2009-01-30     Completed Date:  2009-04-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  400-4     Citation Subset:  IM    
Copyright Information:
Copyright 2008 S. Karger AG, Basel.
The Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.
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MeSH Terms
Fetal Diseases / pathology*
Gestational Age
Muscle, Skeletal / pathology*
Myopathies, Nemaline / pathology*
Pregnancy Trimester, Second
Prenatal Diagnosis / methods*

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