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Artigo em Inglês | IMSEAR | ID: sea-41623

RESUMO

OBJECTIVES: Preimplantation Genetic Diagnosis (PGD) is an alternative to prenatal diagnosis providing couples the chance to start a pregnancy with an unaffected fetus. The objective of the present study was to develop and apply quick, sensitive and accurate single cell PCR protocols for PGD of beta-thalassemia and Down's syndrome detection. MATERIAL AND METHOD: Two couples carrying beta-thalassemia codon41-42 mutation underwent routine IVF procedures. Embryo biopsy was performed on Day-3 post-fertilisation and single cell multiplex fluorescent PCR was employed for mutation analysis, contamination detection and diagnosis of trisomy 21 cases. RESULTS: Seventeen embryos were tested in two clinical PGD cycles. This resulted in the first birth following PGD for a single gene disorder in Thailand and South East Asia, confirmed by prenatal testing. Two embryos were shown to be affected by Down's syndrome. CONCLUSION: Successful strategy for PGD of beta-thalassemia and Down's syndrome detection using multiplex fluorescent PCR was introduced.


Assuntos
Adulto , Códon , Síndrome de Down/diagnóstico , Transferência Embrionária , Embrião de Mamíferos/patologia , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase/métodos , Gravidez , Diagnóstico Pré-Implantação , Diagnóstico Pré-Natal , Talassemia beta/diagnóstico
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