title: Prenatal prediction of spinal muscular atrophy by SMN deletion analysis.
abstract: The objective of this study was to provide prenatal prediction of spinal muscular atrophy (SMA) by survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with previous child affected with SMA. The SMN gene is absent or interrupted in approximately 95% of SMA patients independence of clinical severity. We study four families with one previous child affected in each by performing the SMN deletion analysis in the index case. When a homozygous deletion in exon 7 or exon 8 is found, we offer prenatal prediction to the family. All four index cases had homozygous deletions of the SMN gene. Prenatal diagnosis by amniocentesis was performed in all pregnancies. Two pregnancies were positive for the homozygous deletion of the SMN gene, non-directive counseling was given and the two pregnancies were terminated. The other two pregnancies showed no deletion of the SMN gene. The unborn child is yet to be followed up. The prenatal prediction of SMA shows considerable requirements and potential effectiveness in prevention of the SMA in families at risk which cut the cost of care in this incurable disease.
authors.affiliation: Department of Anatomy, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors.forename: V
authors.initials: V
authors.lastname: Dhamcharee
authors.forename: A
authors.initials: A
authors.lastname: Mutirangura
authors.forename: Y
authors.initials: Y
authors.lastname: Tannirandom
authors.forename: S
authors.initials: S
authors.lastname: Jongpiputvanich
authors.forename: O
authors.initials: O
authors.lastname: Romyanan
mesh_terms: D000649:Amniocentesis; D017362:Cyclic AMP Response Element-Binding Protein; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins