Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells / 中华医学杂志(英文版)

ABSTRACT

<p><b>BACKGROUND</b>Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord. The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients. This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.</p><p><b>METHODS</b>Prenatal diagnosis was made in 8 fetuses with a family history of SMA. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.</p><p><b>RESULTS</b>The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA. Two fetuses were detected positive and the pregnancies were terminated.</p><p><b>CONCLUSION</b>Our method is effective and convenient in prenatal diagnosis of SMA.</p>