title: Preimplantation genetic diagnosis of chromosome translocations by analysis of polymorphic short tandem repeats.
abstract: BACKGROUND
  We aimed to develop and implement a short tandem repeat (STR) polymerase chain reaction alternative to fluorescence in situ hybridisation (FISH) for the preimplantation genetic diagnosis (PGD) of chromosomal translocations.
  
  
  METHODS
  Selected informative STRs located on translocated arms of relevant chromosomes were used to discriminate between normal and unbalanced chromosome states in each embryo.
  
  
  RESULTS
  PGD cycles were performed on five couples where one spouse carried a balanced translocation. 27 embryos were analysed, of which 12 were normal/balanced, 12 were abnormal/unbalanced and three were indeterminate. Four PGD cycles proceeded to embryo transfer, of which two led to pregnancy. The first pregnancy showed a normal male karyotype, and a healthy baby was delivered at term. A second pregnancy unexpectedly miscarried in the second trimester from unknown causes.
  
  
  CONCLUSIONS
  STR analysis is a simple and suitable alternative to FISH for detecting unbalanced chromosomal states in preimplantation embryos.
authors.affiliation: KKIVF, Department of Reproductive Medicine, KK Women's and Children's Hospital, Singapore.
authors.forename: Seong Feei
authors.initials: SF
authors.lastname: Loh
authors.forename: Peng Cheang
authors.initials: PC
authors.lastname: Wong
authors.forename: Boran
authors.initials: B
authors.lastname: Jiang
authors.forename: Gare Hoon
authors.initials: GH
authors.lastname: Yeo
authors.forename: Arnold S C
authors.initials: AS
authors.lastname: Tan
authors.forename: Ethiraj Balaji
authors.initials: EB
authors.lastname: Prasath
authors.forename: Joyce
authors.initials: J
authors.lastname: Mathew
authors.forename: Melinda L H
authors.initials: ML
authors.lastname: Chan
authors.forename: Wei Chin
authors.initials: WC
authors.lastname: Tan
authors.forename: Mahesh
authors.initials: M
authors.lastname: Choolani
authors.forename: Christine H A
authors.initials: CH
authors.lastname: Yap
authors.forename: Samuel S
authors.initials: SS
authors.lastname: Chong
mesh_terms: D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic / Q000235:genetics*