title: [Preimplantation genetic diagnosis for beta-thalassemia].
abstract: OBJECTIVE
  To investigate the effect of in vitro fertilization and embryo transfer (IVF-ET) and preimplantation genetic diagnosis (PGD) for the couples at risk of having children with beta-thalassemia.
  
  
  METHODS
  Four couples carrying different thalassemia mutations received standard IVF treatment. Embryo biopsy was conducted. Single blastomeres were genotyped by a protocol involving primer extension preamplification, nested polymerase chain reaction and reverse dot-blot analysis. Only the unaffected embryos were transferred to the uterus.
  
  
  RESULTS
  A total of 97 oocytes were retrieved from the four female carriers. Among them, 83% showed two pronuclei. Embryo biopsy was performed on 47 of these embryos. The amplification efficiency was 84.8%. The average ADO rate was 14.9%. Ten unaffected embryos were transferred. A twin pregnancy with one blighted ovum was confirmed at 7 weeks' gestation by ultrasonography and one normal baby and one carrier of thalassemia mutation were born finally.
  
  
  CONCLUSIONS
  This unaffected pregnancy resulting from PGD for beta-thalassemia demonstrates that PGD technique can be a powerful diagnostic tool for couples carrying beta-thalassemia mutations who desire a healthy child and wish to avoid abortion of an affected fetus.
authors.affiliation: Reproductive Medical Center, First Affiliated Hospital of Sun Yet-sen University, Guangzhou 510080, China.
authors.forename: Ze-xu
authors.initials: ZX
authors.lastname: Jiao
authors.forename: Guan-lun
authors.initials: GL
authors.lastname: Zhuang
authors.forename: Can-quan
authors.initials: CQ
authors.lastname: Zhou
authors.forename: Yi-min
authors.initials: YM
authors.lastname: Shu
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Liang
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Min-fang
authors.initials: MF
authors.lastname: Zhang
authors.forename: Ming-fen
authors.initials: MF
authors.lastname: Deng
mesh_terms: D001706:Biopsy; D004622:Embryo, Mammalian / Q000473:pathology; D005260:Female; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics