title: Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR.
abstract: OBJECTIVE
  Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis (PND) giving couples at risk a chance to start a pregnancy with a disease-free baby. This study aimed to develop a new PGD protocol for alpha-thalassemia(-SEA) mutation, the commonest Mendelian disorder.
  
  
  METHODS
  Multiplex fluorescent PCR was employed for mutation, contamination and linkage analysis. A couple experienced termination of pregnancy following positive PND decided to join the project.
  
  
  RESULTS
  Novel primers for alpha-thalassemia(-SEA) mutation amplifying 5 DNA fragments were developed. Two PGD cycles were performed, resulting in an un-affected baby. PND confirmed the heterozygous result. From 24 embryos, 87.5% of affected genotype were of best quality compared to 0% and 18.2% of those with normal and heterozygous, respectively.
  
  
  CONCLUSIONS
  A novel PCR protocol for the common alpha-thalassemia(-SEA) mutation is reported. This test should be widely applicable. Interestingly, a potential effect of alpha-thalassemia(-SEA) mutation on preimplantation embryonic development was noticed.
authors.affiliation: Preimplantation Genetic Diagnosis Center, Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 110 Intawaroros Road, Sripoom, Mueang, Chiang Mai, 50200, 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: Torpong
authors.initials: T
authors.lastname: Sanguansermsri
mesh_terms: D000328:Adult; D004624:Embryo Transfer / Q000379:methods; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D059010:Single-Cell Analysis; D020554:Sperm Injections, Intracytoplasmic; D017085:alpha-Thalassemia / Q000235:genetics* / Q000517:prevention & control