title: Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.
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.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Esposito
authors.forename: Raffaella
authors.initials: R
authors.lastname: Ruggiero
authors.forename: Maria
authors.initials: M
authors.lastname: Savarese
authors.forename: Giovanni
authors.initials: G
authors.lastname: Savarese
authors.forename: Maria Roberta
authors.initials: MR
authors.lastname: Tremolaterra
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.forename: Antonella
authors.initials: A
authors.lastname: Carsana
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis