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.

CONCLUSION

This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.