A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR.

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dc.contributor.authorPiyamongkol, Wirawiten_US
dc.contributor.authorVutyavanich, Terapornen_US
dc.contributor.authorPiyamongkol, Sirivipaen_US
dc.contributor.authorWells, Daganen_US
dc.contributor.authorKunaviktikul, Chairaten_US
dc.contributor.authorTongsong, Theeraen_US
dc.contributor.authorChaovisitsaree, Somsaken_US
dc.contributor.authorSaetung, Rattikaen_US
dc.contributor.authorSanguansermsri, Torpongen_US
dc.date.accessioned2009-05-27T19:42:00Z
dc.date.available2009-05-27T19:42:00Z
dc.date.issued2006-07-03en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractOBJECTIVES: 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.en_US
dc.description.affiliationDepartment of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, Thailand. wpiyamon@mail.med.cmu.ac.then_US
dc.identifier.citationPiyamongkol W, Vutyavanich T, Piyamongkol S, Wells D, Kunaviktikul C, Tongsong T, Chaovisitsaree S, Saetung R, Sanguansermsri T. A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR. Journal of the Medical Association of Thailand. 2006 Jul; 89(7): 918-27en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/41623
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshAdulten_US
dc.subject.meshCodonen_US
dc.subject.meshDown Syndrome --diagnosisen_US
dc.subject.meshEmbryo Transferen_US
dc.subject.meshEmbryo, Mammalian --pathologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPolymerase Chain Reaction --methodsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPreimplantation Diagnosisen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.subject.meshbeta-Thalassemia --diagnosisen_US
dc.titleA successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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