The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers.
Alternate segregation
Interchromosomal effect (ICE)
PGT-SR
Robertsonian translocation
Segregation patterns of trivalent structure
Journal
Journal of assisted reproduction and genetics
ISSN: 1573-7330
Titre abrégé: J Assist Reprod Genet
Pays: Netherlands
ID NLM: 9206495
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
12
01
2022
accepted:
31
05
2023
pmc-release:
01
08
2024
medline:
27
7
2023
pubmed:
20
6
2023
entrez:
20
6
2023
Statut:
ppublish
Résumé
To analyze factors affecting segregation and ploidy results from Robertsonian carriers, and determine chromosomes involved impact chromosome stability during meiosis and mitosis. This retrospective study include 928 oocyte retrieval cycles from 763 couples with Robertsonian translocations undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) using next-generation sequencing (NGS) between December 2012 and June 2020.The segregation patterns of the trivalent of 3423 blastocysts were analyzed according to the carrier's sex and age. A total of 1492 couples who received preimplantation genetic testing for aneuploidy (PGT-A) were included as the control group and matched according to maternal age and testing time stage. A total of 1728 (50.5%) normal/balanced embryos were identified from 3423 embryos diagnosed. The rate of alternate segregation in male Robertsonian translocation carriers was significantly higher than that in female carriers (82.3% vs. 60.0%, P < 0.001). However, the segregation ratio exhibited no difference between young and older carriers. Further, increasing maternal age decreased the proportion of transferable embryo cycle in both female and male carriers. And the ratio of chromosome mosaic from the Robertsonian translocation carrier group was significantly higher than that in the PGT-A control group (1.2% vs. 0.5%, P < 0.01). The meiotic segregation modes were affected by the carrier sex and were independent of the carrier's age. Advanced maternal age decreased the probability of obtaining a normal/balanced embryo. In additional, the Robertsonian translocation chromosome could increase the possibility of chromosome mosaicism during mitosis in blastocysts.
Identifiants
pubmed: 37338749
doi: 10.1007/s10815-023-02853-5
pii: 10.1007/s10815-023-02853-5
pmc: PMC10371959
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1995-2002Subventions
Organisme : National Natural Science Foundation of China
ID : grant 81873478
Organisme : Natural Science Foundation of Hunan Province
ID : Grant 2022JJ30414 and 2019JJ50397
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Références
Reprod Biomed Online. 2018 Nov;37(5):511-520
pubmed: 30228073
Cell. 2019 Aug 22;178(5):1132-1144.e10
pubmed: 31402175
Urol Int. 1997;58(3):166-76
pubmed: 9188138
Nature. 2022 Jul;607(7919):604-609
pubmed: 35831506
Reprod Biomed Online. 2005 Mar;10(3):363-9
pubmed: 15820044
Hum Genet. 1997 Jul;100(1):1-21
pubmed: 9225963
Eur J Obstet Gynecol Reprod Biol. 1998 Dec;81(2):171-6
pubmed: 9989862
J Assist Reprod Genet. 2019 Sep;36(9):1963-1969
pubmed: 31392661
J Assist Reprod Genet. 2018 Jan;35(1):177-186
pubmed: 28921398
Front Genet. 2022 Jun 02;13:880208
pubmed: 35719400
PLoS Genet. 2012;8(10):e1003025
pubmed: 23133396
Fertil Steril. 2010 Jun;94(1):283-9
pubmed: 20034626
J Assist Reprod Genet. 2019 Dec;36(12):2547-2555
pubmed: 31696386
Syst Biol Reprod Med. 2011 Dec;57(6):268-78
pubmed: 22092077
Obstet Gynecol. 1981 Sep;58(3):282-5
pubmed: 6455611
Genetics. 2020 Nov;216(3):621-631
pubmed: 33158985
Fertil Steril. 2014 Mar;101(3):656-663.e1
pubmed: 24355045
Fertil Steril. 2013 Apr;99(5):1369-76
pubmed: 23312224
J Cell Sci. 2001 Aug;114(Pt 16):2953-65
pubmed: 11686299
Hum Reprod. 2002 Dec;17(12):3201-7
pubmed: 12456624
Fertil Steril. 2003 Jun;79 Suppl 3:1528-34
pubmed: 12801555
Ann Hum Genet. 1989 Jan;53(1):49-65
pubmed: 2658738
Cytogenet Genome Res. 2005;111(3-4):317-36
pubmed: 16192711
J Assist Reprod Genet. 2013 Sep;30(9):1141-5
pubmed: 23893157
Fertil Steril. 2010 Mar 1;93(4):1061-5
pubmed: 19135658
Cytogenet Genome Res. 2021;161(5):225-226
pubmed: 34407535
Cell Mol Life Sci. 2019 Mar;76(6):1135-1150
pubmed: 30564841
Cell. 2021 May 27;184(11):2860-2877.e22
pubmed: 33964210
Hum Reprod. 1999 Aug;14(8):2097-101
pubmed: 10438432
Reprod Biomed Online. 2006 Dec;13(6):869-74
pubmed: 17169213