Prenatal diagnosis of Werdnig-Hoffmann disease in China / 中华医学杂志(英文版)

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>This approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.</p>