Moznosti a výsledky preimplantacní genetické diagnostiky (PGD) u párů s chromozomální translokací
[Preimplantation genetic diagnosis (PGD) in carriers of chromosomal translocations: possibilities and results]
Jazyk čeština Země Česko Médium print
Typ dokumentu anglický abstrakt, časopisecké články
PubMed
21649991
- MeSH
- fertilizace in vitro MeSH
- heterozygot * MeSH
- infertilita genetika terapie MeSH
- lidé MeSH
- novorozenec MeSH
- preimplantační diagnóza * MeSH
- těhotenství MeSH
- translokace genetická * MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
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 difference 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.