title: Outcome of preimplantation genetic diagnosis of translocations.
abstract: OBJECTIVE
  To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes.
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  Clinical IVF laboratory.
  
  
  METHODS
  Thirty-five couples with one partner carrying a chromosomal translocation.
  
  
  METHODS
  PGD of translocation after polar-body or embryo biopsy.
  
  
  METHODS
  Pregnancy outcome.
  
  
  RESULTS
  Several trends were observed. First, PGD can achieve a statistically significant reduction in spontaneous abortion, from 95% to 13%. Second, the chances of achieving pregnancy are correlated with 50% or more of the embryos being chromosomally normal. Third, patients with robertsonian translocations produced fewer abnormal gametes and more pregnancies than did patients with reciprocal translocations. Fourth, a new fluorescence in situ hybridization protocol for PGD of translocations, which involves applying telomeric probes, has proved adequately reliable with a 6% average error rate.
  
  
  CONCLUSIONS
  PGD of translocations achieves a statistically significant reduction in spontaneous abortion, both for polar-body and blastomere biopsy cases. Pregnancy outcome depended on the number of normal embryos available for transfer, with patients having <50% abnormal embryos achieving the most pregnancies. Because robertsonian translocations caused fewer abnormal embryos than reciprocal translocations, they also resulted in higher rates of implantation.
authors.affiliation: The Institute for Reproductive Medicine and Science, Saint Barnabas Medical Center, Livingston, New Jersey, USA. santi.munne@embryos.net
authors.forename: S
authors.initials: S
authors.lastname: Munné
authors.forename: M
authors.initials: M
authors.lastname: Sandalinas
authors.forename: T
authors.initials: T
authors.lastname: Escudero
authors.forename: J
authors.initials: J
authors.lastname: Fung
authors.forename: L
authors.initials: L
authors.lastname: Gianaroli
authors.forename: J
authors.initials: J
authors.lastname: Cohen
mesh_terms: D000022:Abortion, Spontaneous / Q000517:prevention & control; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D010064:Embryo Implantation; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis; D012189:Retrospective Studies; D016615:Telomere / Q000235:genetics; D014178:Translocation, Genetic