Aim. Optimization of the algorithm of complex 24 chromosomes screening in programs of assisted reproductive technologies. Methods. Research of non-disjunction chromosomes in preimplantation embryos based on the results of trophectoderm nucleus diagnostics using FISH and NGS-based CCS. During the preimplantation genetic diagnosis (PGD) on the nucleus by FISH were used probes for chromosomes 13, 16, 18, 21, 22, X, Y. Results. Among the demonstrated cases of embryo diagnosis there was only one embryo that showed a coincidence in the results obtained by different investigation methods. In the other sample, where was diagnosed non-mosaic 18 and 22 monosomy by FISH, the NGS-based CCS showed only monosomy 18. The other embryo had ploidy mosaicism indicated by FISH, but according to NGS results it was evaluated as euploid. Conclusions. Embryos obtained in ART programs must be screened for chromosomal aneuploidy in the preimplantation period to increase the effectiveness in the programs of assisted reproductive technologies, using combination of FISH and NGS methods.
Keywords: preimplantation genetic diagnosis, assisted reproductive technologies, aneuploid embryos, NGS, FISH.
O5 Determination of mutation loads in preimplantation embryos to assess the effectiveness of preimplantation genetic diagnosis (PGD) for mitochondrial DNA (mtDNA) inherited disorders