| Title | Prenatal diagnosis of spinal muscular atrophy: Indian scenario. |
| Publication Type | Journal Article |
| Year of Publication | 2005 |
| Authors | Kesari A, Rennert H, Leonard DGB, Phadke SR, Mittal B |
| Journal | Prenat Diagn |
| Volume | 25 |
| Issue | 8 |
| Pagination | 641-4 |
| Date Published | 2005 Aug |
| ISSN | 0197-3851 |
| Keywords | Chorionic Villi Sampling, Cyclic AMP Response Element-Binding Protein, Exons, Family, Female, Gene Deletion, Genetic Carrier Screening, Humans, India, Male, Muscular Atrophy, Spinal, Nerve Tissue Proteins, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Preconception Care, Pregnancy, Prenatal Diagnosis, RNA-Binding Proteins, SMN Complex Proteins, Survival of Motor Neuron 1 Protein |
| 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. |
| DOI | 10.1002/pd.1212 |
| Alternate Journal | Prenat Diagn |
| PubMed ID | 16049987 |
Related Faculty:
Hanna Rennert, Ph.D.