Preimplantation genetic diagnosis (PGD) in carriers of chromosomal translocations: possibilities and results
Mardesić, T.; Kosarová, M.; Zudová, D.; Jelínková, L.; Sobotka, V.; Gregor, V.
Ceska Gynekologie 76(2): 100-103
2011
ISSN/ISBN: 1210-7832 PMID: 21649991 Document Number: 653428
To assess the PGD results in couples with robertsonian and reciprocal translocations. Retrospective study. Sanatorium Pronatal, Prague, accredited IVF unit. 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. 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 difference was statistically significant (p = 0.033). Only one pregnancy in each group ended as abortion. 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.