Piyamongkol, WirawitVutyavanich, TerapornPiyamongkol, SirivipaWells, DaganKunaviktikul, ChairatTongsong, TheeraChaovisitsaree, SomsakSaetung, RattikaSanguansermsri, Torpong2009-05-272009-05-272006-07-03Piyamongkol 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): 918-27http://imsear.searo.who.int/handle/123456789/41623Chotmaihet Thangphaet.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.engAdultCodonDown Syndrome --diagnosisEmbryo TransferEmbryo, Mammalian --pathologyFemaleHumansMalePolymerase Chain Reaction --methodsPregnancyPreimplantation DiagnosisPrenatal Diagnosisbeta-Thalassemia --diagnosisJournal Article