Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
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.
Kesari
Akanchha
A
Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Rennert
Hanna
H
Leonard
Debra G B
DG
Phadke
Shubha R
SR
Mittal
Balraj
B
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
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