Preimplantation genetic diagnosis (PGD) in carriers of chromosomal translocations: possibilities and results

Czech version

Authors: T. Mardešić; M. Kosařová; D. Zudová; L. Jelínková; V. Sobotka; V. Gregor
Authors‘ workplace: Sanatorium Pronatal, Praha, vedoucí lékař doc. MUDr. T. Mardešić, CSc.
Published in: Ceska Gynekol 2011; 76(2): 100-103

Overview

Aim of the study:
To assess the PGD results in couples with robertsonian and reciprocal translocations.

Design:
Retrospective study.

Setting:
Sanatorium Pronatal, Prague, accredited IVF unit.

Methods:
94 infertile couples with translocation (44 couples with robertsonian and 50 couples with reciprocal translocations) were included in the study. The mean woman’s age was not different: 33±4,4 in robertsonian vers. 33±3,9 in reciprocal translocations. The performance of FISH probes in specific cases was tested on patient’s lymfocytes before the treatment was started. After ovarian stimulation (recombinant FSH or hMG + GnRH agonist, „long“ protocol) and transvaginal oocyte pick-up, embryo biopsy of a single cell was performed 72 hours after fertilization. After blastomere fixation, translocated chromosomes + chromosomes 13, 18, 21, X and Y were tested using FISH. The maximum of two embryos euploid for detected chromosomes were transferred, supernumerary euploid embryos were frozen.

Results:
From the total number of 629 embryos, 126 embryos (21,9%) were detected as normal or with balanced translocation - 25,2% (68/270) in couples with robertsonian and 16,4% (59/359) with reciprocal translocation. Embryotransfer was performed in 30 cycles (68,2%) in robertsonian and 27 (54%) in reciprocal translocations. 24 pregnancies were achieved – 15 (39% per cycle and 50% per ET) for robertsonian and 9 (19% per cycle and 33% per ET) for reciprocal translocation – this diference was statistically significant (p= 0,033). Only one pregnancy in each group ended as abortion.

Summary:
IVF is a valuable option for couples with infertility problems and translocation. This technique allows in short term a conception and delivery of a healthy baby with general better prognosis for couples with robertsonian translocation.

Key words:
IVF, ICSI, preimplantation genetic diagnosis, robertsonian translocation, reciprocal translocation, pregnancy.

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