title: Prenatal diagnosis of Werdnig-Hoffmann disease in China.
abstract: OBJECTIVE
  To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.
  
  
  METHODS
  Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.
  
  
  RESULTS
  The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.
  
  
  CONCLUSIONS
  This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.
authors.affiliation: Department of Neurology, Children's Hospital, Zhejiang University, Hangzhou 310027, China. pedjianhuafeng@sina.com
authors.forename: Jianhua
authors.initials: J
authors.lastname: Feng
authors.forename: Yamamoto
authors.initials: Y
authors.lastname: Toshiyuki
mesh_terms: D002681:China; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics