Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

Gabriella Esposito; Raffaella Ruggiero; Maria Savarese; Giovanni Savarese; Maria Roberta Tremolaterra; Francesco Salvatore; Antonella Carsana

doi:10.1515/cclm-2013-0209

Artikel

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

Gabriella Esposito , Raffaella Ruggiero , Maria Savarese , Giovanni Savarese , Maria Roberta Tremolaterra , Francesco Salvatore und Antonella Carsana

Veröffentlicht/Copyright: 23. Mai 2013

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Aus der Zeitschrift Clinical Chemistry and Laboratory Medicine (CCLM) Band 51 Heft 12

Abstract

Background: Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA).

Methods: We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis.

Results: We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time.

Conclusions: Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

Keywords: Duchenne/Becker muscular dystrophy; molecular diagnosis; myotonic dystrophy type 1; prenatal diagnosis; spinal muscular atrophy

Corresponding author: Francesco Salvatore, Ceinge-Biotecnologie Avanzate scarl, Via Gaetano Salvatore 486, 80145 Naples, Italy, Phone: +39-0817463133, Fax +39-0817463650, E-mail: salvator@unina.it

Grants from Regione Campania (DGRC 1901/09) are gratefully acknowledged. We are indebted to Jean Ann Gilder (Scientific Communication srl) for editing the text.

Conflict of interest statement

Authors’ conflict of interest disclosure: The authors stated that there are no conflicts of interest regarding the publication of this article.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Informed consent: All patients underwrote the informed consent to allow to use anonymously their clinical and laboratory data for scientific purposes.

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Received: 2012-12-19

Accepted: 2013-03-08

Published Online: 2013-05-23

Published in Print: 2013-12-01

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https://doi.org/10.1515/cclm-2013-0209

Schlagwörter für diesen Artikel

Duchenne/Becker muscular dystrophy; molecular diagnosis; myotonic dystrophy type 1; prenatal diagnosis; spinal muscular atrophy