title: Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
abstract: OBJECTIVE
  To study the psychosocial issues associated with prenatal diagnosis of SMA in India and the use of SMN1 copy number analysis for carrier detection prior to offering prenatal diagnosis.
  
  
  METHODS
  Homozygous deletion of SMN1 gene was done by PCR-RFLP. Copy number analysis of SMN1 gene was performed by quantitative PCR.
  
  
  RESULTS
  We report our experience of eight cases of prenatal diagnosis for SMA and the use of carrier detection prior to offering prenatal diagnosis. Quantitative PCR results show that SMN1 copy number analysis is useful to identify couples at risk.
  
  
  CONCLUSIONS
  Case analyses depict unique psychosocial issues associated with prenatal diagnosis of SMA from India.
authors.affiliation: Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
authors.forename: Akanchha
authors.initials: A
authors.lastname: Kesari
authors.forename: Hanna
authors.initials: H
authors.lastname: Rennert
authors.forename: Debra G B
authors.initials: DG
authors.lastname: Leonard
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D015193:Chorionic Villi Sampling; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D007194:India; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D016742:Preconception Care; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein