A Successful Strategy for Preimplantation Genetic Diagnosis of beta-Thalassemia and Simultaneous Detection of Down’s Syndrome Using Multiplex Fluorescent PCR
Wirawit Piyamongkol MD, PhD*, Teraporn Vutyavanich MD, MMedSc*, Sirivipa Piyamongkol PhD**, Dagan Wells PhD***, Chairat Kunaviktikul MD*, Theera Tongsong MD*, Somsak Chaovisitsaree MD*, Rattika Saetung****, Torpong Sanguansermsri MD****
Affiliation : * Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, Chiang Mai ** Department of Pharmaceutical Sciences, Faculty of Pharmacy, Chiang Mai University, Chiang Mai *** Department of Obstetrics, Gynecology & Reproductive Sciences, Yale University, New Haven, USA **** Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai
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.
Materials and Methods : 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.
Keywords : beta-thalassemia, Down’s syndrome, Embryo selection, Preimplantation genetic diagnosis (PGD), Prenatal diagnosis (PND), Multiplex fluorescent single cell PCR, Trisomy 21
