Prenatal prediction of spinal muscular atrophy by SMN deletion analysis.

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dc.contributor.authorDhamcharee, Ven_US
dc.contributor.authorMutirangura, Aen_US
dc.contributor.authorTannirandom, Yen_US
dc.contributor.authorJongpiputvanich, Sen_US
dc.contributor.authorRomyanan, Oen_US
dc.date.accessioned2009-05-27T15:11:09Z
dc.date.available2009-05-27T15:11:09Z
dc.date.issued1999-12-13en_US
dc.descriptionThe Southeast Asian Journal of Tropical Medicine and Public Health.en_US
dc.description.abstractThe 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.en_US
dc.description.affiliationDepartment of Anatomy, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.en_US
dc.identifier.citationDhamcharee V, Mutirangura A, Tannirandom Y, Jongpiputvanich S, Romyanan O. Prenatal prediction of spinal muscular atrophy by SMN deletion analysis. The Southeast Asian Journal of Tropical Medicine and Public Health. 1999 ; 30 Suppl 2(): 186-7en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/32136
dc.language.isoengen_US
dc.source.urihttps://www.tm.mahidol.ac.th/seameo/publication.htmen_US
dc.subject.meshAmniocentesisen_US
dc.subject.meshCyclic AMP Response Element-Binding Proteinen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Deletionen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshHumansen_US
dc.subject.meshNerve Tissue Proteins --geneticsen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshRNA-Binding Proteinsen_US
dc.subject.meshSMN Complex Proteinsen_US
dc.subject.meshSpinal Muscular Atrophies of Childhood --diagnosisen_US
dc.titlePrenatal prediction of spinal muscular atrophy by SMN deletion analysis.en_US
dc.typeJournal Articleen_US
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