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.

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.

• Authors: S Munné, M Sandalinas, T Escudero, J Fung, L Gianaroli, J Cohen
• Journal: Fertility and sterility (Fertil Steril) Vol. 73 Issue 6 Pg. 1209-18 (Jun 2000) ISSN: 0015-0282 [Print] United States
• PMID: 10856485 (Publication Type: Case Reports, Journal Article)

Topics

• 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