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Vol. 24, No. 4, 2008
Issue release date: January 2009
Section title: Paper
Fetal Diagn Ther 2008;24:400–404
(DOI:10.1159/000170095)

Utility of Fetal Muscle Biopsy for Diagnosis of Nemaline Myopathy

Kasperski S.B. · Brennan A.M. · Corteville J.E. · Finkel R.S. · Golden J. · Johnson M.P. · Wilson R.D.
aThe Center for Fetal Diagnosis and Treatment at the Children’s Hospital of Philadelphia, Philadelphia, Pa., Departments of bObstetrics, cNeurology and dPathology, University of Pennsylvania School of Medicine, Philadelphia, Pa., and eMetro Health Center, Cleveland, Ohio, USA

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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 12/21/2007
Accepted: 3/11/2008
Published online: 11/6/2008

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 2

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT

Abstract

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.


Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 12/21/2007
Accepted: 3/11/2008
Published online: 11/6/2008

Number of Print Pages: 5
Number of Figures: 2
Number of Tables: 2

ISSN: 1015-3837 (Print)
eISSN: 1421-9964 (Online)

For additional information: http://www.karger.com/FDT


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Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

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