Prenatal diagnosis of spinal muscular atrophy: Indian scenario. Academic Article uri icon

Overview

abstract

  • OBJECTIVES: 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. CONCLUSION: Case analyses depict unique psychosocial issues associated with prenatal diagnosis of SMA from India.

publication date

  • August 1, 2005

Research

keywords

  • Cyclic AMP Response Element-Binding Protein
  • Family
  • Muscular Atrophy, Spinal
  • Nerve Tissue Proteins
  • Prenatal Diagnosis
  • RNA-Binding Proteins

Identity

Scopus Document Identifier

  • 23844544703

Digital Object Identifier (DOI)

  • 10.1002/pd.1212

PubMed ID

  • 16049987

Additional Document Info

volume

  • 25

issue

  • 8