Prenatal diagnosis of Werdnig-Hoffmann disease in China
Jianhua Feng1, Yamamoto Toshiyuki
1Department of Neurology, Children's Hospital, Zhejiang University, Hangzhou 310027, China. pedjianhuafeng@sina.com
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.
