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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2239-2245
Number of pages7
JournalClinical Chemistry and Laboratory Medicine
Volume51
Issue number12
DOIs
Publication statusPublished - Dec 1 2013

Fingerprint

Spinal Muscular Atrophies of Childhood
Neuromuscular Diseases
Myotonic Dystrophy
Duchenne Muscular Dystrophy
Prenatal Diagnosis
Muscular Diseases
Muscle
Counseling
Spinal Muscular Atrophy
Molecular Pathology
Mutation Rate
Fetus
Technology

Keywords

  • Duchenne/Becker muscular dystrophy
  • Molecular diagnosis
  • Myotonic dystrophy type 1
  • Prenatal diagnosis
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Prenatal molecular diagnosis of inherited neuromuscular diseases : Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. / Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella.

In: Clinical Chemistry and Laboratory Medicine, Vol. 51, No. 12, 01.12.2013, p. 2239-2245.

Research output: Contribution to journalArticle

Esposito, Gabriella ; Ruggiero, Raffaella ; Savarese, Maria ; Savarese, Giovanni ; Tremolaterra, Maria Roberta ; Salvatore, Francesco ; Carsana, Antonella. / Prenatal molecular diagnosis of inherited neuromuscular diseases : Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. In: Clinical Chemistry and Laboratory Medicine. 2013 ; Vol. 51, No. 12. pp. 2239-2245.
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