title: First successful preimplantation genetic diagnosis in Singapore--avoidance of beta-thalassaemia major.
abstract: BACKGROUND
  We report on the first successful preimplantation genetic diagnosis (PGD) in Singapore.
  
  
  METHODS
  A couple who are beta-thalassaemia carriers and have an affected daughter requested for PGD.
  
  
  METHODS
  Two cycles of PGD were performed on the couple. Beta-thalassaemia mutations were detected using a nested PCR and minisequencing strategy, and unaffected embryos were selected for transfer.
  
  
  RESULTS
  A singleton pregnancy was achieved in the second PGD cycle, resulting in the birth of a healthy baby boy with carrier genotype.
  
  
  CONCLUSIONS
  This case report documents the first successful PGD in Singapore, involving a couple at-risk of transmitting beta-thalassaemia major.
authors.affiliation: Women's Health and Fertility Centre, Mount Elizabeth Medical Centre, Singapore.
authors.forename: Christine
authors.initials: C
authors.lastname: Yap
authors.forename: Arnold S C
authors.initials: AS
authors.lastname: Tan
authors.forename: Wen
authors.initials: W
authors.lastname: Wang
authors.forename: Mui Nee
authors.initials: MN
authors.lastname: Lim
authors.forename: Samuel S
authors.initials: SS
authors.lastname: Chong
mesh_terms: D000328:Adult; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012307:Risk Factors; D012846:Singapore; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control