Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations.
PGT-SR
blastocysts
meiotic segregation patterns
next-generation sequencing
reciprocal translocation
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
21
02
2022
accepted:
11
04
2022
entrez:
20
6
2022
pubmed:
21
6
2022
medline:
21
6
2022
Statut:
epublish
Résumé
Reciprocal translocations are the most common structural chromosome rearrangements and may be associated with reproductive problems. Therefore, the objective of this study was to analyze factors that can influence meiotic segregation patterns in blastocysts for reciprocal translocation carriers. Segregation patterns of quadrivalents in 10,846 blastocysts from 2,871 preimplantation genetic testing cycles of reciprocal translocation carriers were analyzed. The percentage of normal/balanced blastocysts was 34.3%, and 2:2 segregation was observed in 90.0% of the blastocysts. Increased TAR1 (ratio of translocated segment 1 over the chromosome arm) emerged as an independent protective factor associated with an increase in alternate segregation (p = 0.004). Female sex and involvement of an acrocentric chromosome (Acr-ch) were independent risk factors that reduced alternate segregation proportions (p < 0.001). Notably, a higher TAR1 reduced the proportion of adjacent-1 segregation (p < 0.001); a longer translocated segment and female sex increased the risk of adjacent-2 segregation (p = 0.009 and p < 0.001, respectively). Female sex and involvement of an Acr-ch enhanced the ratio of 3:1 segregation (p < 0.001 and p = 0.012, respectively). In conclusion, autosomal reciprocal translocation carriers have reduced proportions of alternate segregation in blastocysts upon the involvement of an Acr-ch, female sex, and lower TAR1. These results may facilitate more appropriate genetic counseling for couples with autosomal reciprocal translocation regarding their chances of producing normal/balanced blastocysts.
Identifiants
pubmed: 35719400
doi: 10.3389/fgene.2022.880208
pii: 880208
pmc: PMC9201810
doi:
Types de publication
Journal Article
Langues
eng
Pagination
880208Informations de copyright
Copyright © 2022 Xie, Hu, Peng, Tan, Luo, Gong, Lu and Lin.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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