Investigation of human aneuploidy and polyploidy in subcidiary reproductive technology programs
Abstract
Aim. To evaluate the frequency of aneuploidy and polyploidy among sperm, preimplantation embryos, the embryos stopped in development, developing fetuses and adults studied in the framework of subsidiary reproductive technologies. Methods. To determine the chromosomes of cells from samples of different biological material cytogenetic and molecular cytogenetic methods were used. Results. The highest frequency of aneuploidy is observed among the preimplantation embryos (69.1 %) and the embryos stopped in development (60.9 %). Aneuploid/euploid chromosome set ratio is similar for both genders in all research objects except embryos stopped in development: for females it was 1:1, for males – 1.8:1. Among the spermatozoa most frequent is aneuploidy along the 18th (27 %) and sex (30.3 %) chromosomes, among preimplantation embryos – along the 13th chromosome (31.1 %), among abortuses along the 18th chromosome (40 6 %), fetuses – along the 21st chromosome (72.2 %). Sex ratio among polyploid preimplantation embryos – 1:1, among the embryos stopped in development – 2.5:1 in favor of males. Conclusions. The high frequency of aneuploidy among the early embryos is a leading cause of implantation failure, spontaneous abortion at different timing or the presence of multiple fetal malformations. Preimplantation genetic screening is essential for reducing the incidence of chromosomal abnormalities and increase in the effectiveness of subsidiary reproductive technologies.
Keywords: chromosomal abnormalities, aneuploidy, polyploidy, karyotype, preimplantation genetic screening.References
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