Elsevier

Fertility and Sterility

Volume 73, Issue 6, June 2000, Pages 1209-1218
Fertility and Sterility

Reproductive endocrinology
Outcome of preimplantation genetic diagnosis of translocations

https://doi.org/10.1016/S0015-0282(00)00495-7Get rights and content
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Abstract

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.

Keywords

Robertsonian translocation
reciprocal translocation
mosaicism
PGD

Cited by (0)

e

Steen Willadsen, Ph.D., Ulli Weier, Ph.D., Bill Schoolcraft, M.D. Richard Scott, M.D., Michael Lee, M.S., and Cathy Go, M.Sc.

a

Saint Barnabas Medical Center, Livingston, New Jersey.

b

Reproductive Genetics Unit, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California.

c

Resources for Molecular Cytogenetics, Life Sciences Division, University of California, E. O. Lawrence Berkeley National Laboratory, Berkeley, California.

d

S.I.S.Me.R., Bologna, Italy.