Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells.
BACKGROUND
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
Our method is effective and convenient in prenatal diagnosis of SMA.
Wu
Ting
T
Department of Neurology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Ding
Xin-sheng
XS
Li
Wen-lei
WL
Yao
Juan
J
Deng
Xiao-xuan
XX
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics*; D005091:Exons; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016601:RNA-Binding Proteins / Q000235:genetics*; D055532:SMN Complex Proteins; D017422:Sequence Analysis, DNA; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins