Outcome of preimplantation genetic diagnosis of translocations

Fertil Steril. 2000 Jun;73(6):1209-18. doi: 10.1016/s0015-0282(00)00495-7.


Objective: To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes.

Design: Retrospective study.

Setting: Clinical IVF laboratory.

Patient(s): Thirty-five couples with one partner carrying a chromosomal translocation.

Intervention(s): PGD of translocation after polar-body or embryo biopsy.

Main outcome measure(s): Pregnancy outcome.

Result(s): 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.

Conclusion(s): 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.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Spontaneous / prevention & control
  • Adult
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Embryo Implantation
  • Female
  • Humans
  • Male
  • Pregnancy
  • Pregnancy Outcome*
  • Preimplantation Diagnosis*
  • Retrospective Studies
  • Telomere / genetics
  • Translocation, Genetic*