Prenatal prediction of spinal muscular atrophy by SMN deletion analysis.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 186-7
Artigo
em Inglês
| IMSEAR
| ID: sea-32136
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Diagnóstico Pré-Natal
/
Feminino
/
Humanos
/
Gravidez
/
Atrofias Musculares Espinais da Infância
/
Reação em Cadeia da Polimerase
/
Proteínas de Ligação a RNA
/
Deleção de Genes
/
Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico
/
Proteínas do Complexo SMN
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
/
Estudo prognóstico
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1999
Tipo de documento:
Artigo
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