Prenatal diagnosis of Werdnig-Hoffmann disease in China.
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.


CONCLUSIONS
This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.
Feng
Jianhua
J
Department of Neurology, Children's Hospital, Zhejiang University, Hangzhou 310027, China. pedjianhuafeng@sina.com
Toshiyuki
Yamamoto
Y
D002681:China; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics