Prevention of chromosomal aberrations in the fetuses of patients undergoing assisted procreation programs with Robertsonian translocations in the karyotype


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Abstract

Objective: to reveal the level of chromosomal aberrations in the embryos of patients with Robertsonian translocations in the karyotype. Setting: V. I. Kulagin Research Center of Obstetrics, Gynecology, and Perinatology, Russian Agency for Medical Technologies, Moscow Subjects: males with chromosomal changes in the karyotype, who were included into the assisted procreation (AP) programme and who needed an intraplasma oocystic cytoplamic spermatozoon injection (ICSI) procedure, as well as embryos of two married couples in whom the male karyotype was presented as 45,XY, der(13/l4)(q10;q10). Methods: molecular cytogenetic study. Results: in one married couple, embryonic genetic study revealed in two cycles 62% of embryos suitable for transfer by genetic criteria; trisomy in 38% by the study chromosomes. The other had no embryos suitable for transfer in two AP programs. Chromosomal aneuploidies were exhibited by the following abnormalities: monosomy of chromosome 13 or 14 (37.5%) and trisomy of chromosome 13 or 14 (62.5%). Singleton pregnancy occurred in the first married couple in the second cycle of AP. Conclusion: the high frequency of embryonic genetic abnormalities in patients with karyotypic translocations shows it unadvisable to transfer embryos without their genetic study and necessary to make preimplantation genetic diagnosis in patients with chromosomal aberrations.

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