Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers

By

Tonyan, Ziravard
Puppo, Irina L.
Saifitdinova, Alsu
Vavilova, Tatyana V.
Glotov, Andrey S.

Type

Article

Date of Publication

2024

Original Publication

Comparative cytogenetics : international journal of plant & animal cytogenetics, karyosystematics and molecular systematics

Volume

18

Pages

1--13

Subjects

Chromosome segregation , PGT-SR , quadrivalent asymmetry , reciprocal translocation , Segregation , terminal breakpoints

Contributed by

Pensoft Publishers

Language

English

Published by

St. Petersburg, Russia [Published] with technical support of Zoological Institute RAS [2007]-

Identifiers

DOI: https://doi.org/10.3897/compcytogen.18.115070

 

Abstract

Patterns of meiotic chromosome segregation were analyzed in cleavage stage and blastocyst stage human embryos from couples with autosomal reciprocal translocations (ART). The influence of quadrivalent asymmetry degree, the presence of terminal breakpoints, and the involvement of acrocentric chromosomes in the rearrangement were analyzed to evaluate their contribution to the formation of non-viable embryos with significant chromosomal imbalance due to pathological segregation patterns and to assess the selection of human embryos by the blastocyst stage. A selection of viable embryos resulting from alternate and adjacent-1 segregation and a significant reduction in the detection frequency of the 3 : 1 segregation pattern were observed in human embryos at the blastocyst stage. The presence of terminal breakpoints increased the frequency of 3 : 1 segregation and was also associated with better survival of human embryos resulting from adjacent-1 mode, reflecting the process of natural selection of viable embryos to the blastocyst stage. The demonstrated patterns of chromosome segregation and inheritance of a balanced karyotype in humans will contribute to optimizing the prediction of the outcomes of in vitro fertilization programs and assessing the risks of the formation of unbalanced embryos for ART carriers.