title: A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Successful strategy for PGD of beta-thalassemia and Down's syndrome detection using multiplex fluorescent PCR was introduced.
authors.affiliation: Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, Thailand. wpiyamon@mail.med.cmu.ac.th
authors.forename: Wirawit
authors.initials: W
authors.lastname: Piyamongkol
authors.forename: Teraporn
authors.initials: T
authors.lastname: Vutyavanich
authors.forename: Sirivipa
authors.initials: S
authors.lastname: Piyamongkol
authors.forename: Dagan
authors.initials: D
authors.lastname: Wells
authors.forename: Chairat
authors.initials: C
authors.lastname: Kunaviktikul
authors.forename: Theera
authors.initials: T
authors.lastname: Tongsong
authors.forename: Somsak
authors.initials: S
authors.lastname: Chaovisitsaree
authors.forename: Rattika
authors.initials: R
authors.lastname: Saetung
authors.forename: Torpong
authors.initials: T
authors.lastname: Sanguansermsri
mesh_terms: D000328:Adult; D003062:Codon; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D004624:Embryo Transfer; D004622:Embryo, Mammalian / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D003062:Codon