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Prenatal diagnosis of spinal muscular atrophy: Indian scenario
Author(s) -
Kesari Akanchha,
Rennert Hanna,
Leonard Debra G. B.,
Phadke Shubha R.,
Mittal Balraj
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1212
Subject(s) - spinal muscular atrophy , medicine , prenatal diagnosis , atrophy , pregnancy , obstetrics , pathology , anatomy , fetus , biology , disease , genetics
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. Copyright © 2005 John Wiley & Sons, Ltd.