Abstract
The first regional case of pregnancy management in a patient with a child with spinal muscular atrophy is presented. In the present pregnancy for the purpose of prenatal diagnosis of spinal amyotrophy at 12 weeks transabdominal aspiration of chorion villi was performed, followed by molecular genetic research, which revealed the deletion of exons 7–8 of the SMN 1 gene (survival motor neuron) in the homozygous state. Due to the unfavorable prognosis abortion was performed for medical reasons. Thus, to reduce the risk of having a child with spinal muscular atrophy in families with identified mutations in the SMN 1 gene, prenatal DNA diagnosis of this hereditary pathology is recommended.
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