Prenatal diagnosis of Werdnig-Hoffmann disease in China
Feng, J.; Toshiyuki, Y.
Chinese Medical Journal 116(5): 673-675
2003
ISSN/ISBN: 0366-6999 PMID: 12875676 Document Number: 558468
Objective: To establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA. Methods: Genetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8. Results: The pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated. Conclusion: This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.