A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
24 01 2023
24 01 2023
Historique:
received:
19
08
2022
accepted:
19
01
2023
entrez:
24
1
2023
pubmed:
25
1
2023
medline:
27
1
2023
Statut:
epublish
Résumé
Recent studies suggest that chromosomal polymorphic variations are associated with infertility. A systematic review of chromosomal polymorphisms in assisted reproduction found an association with higher rates of miscarriage. Aim of this study is to analyse the influence of specific types or number of chromosomal polymorphic variations on reproductive outcomes of couples undergoing ICSI treatment. We analysed data from 929 fresh and frozen embryo transfer cycles of 692 women who underwent karyotyping analysis using Giemsa-Trypsin-Leishman (GTL) banding prior to the ICSI procedure at the Fertility Centre of Lanka Hospitals Corporation Plc, Sri Lanka, from January 2016 to December 2018. The outcomes of interest were the pregnancy, miscarriage and live birth rate per cycle. There was no evidence of a difference in the reproductive outcomes between carriers or non-carriers of any type or number of chromosomal polymorphic variation. Our data, in contrast to previous studies, does not support a deleterious effect for the type or number of chromosomal polymorphic variations on reproductive outcomes. However, additional prospective, adequately powered studies, conducted in multiethnic populations, are required to further investigate whether the detection of chromosomal polymorphic variants prior to assisted conception may in fact be a futile diagnostic tool.
Identifiants
pubmed: 36693931
doi: 10.1038/s41598-023-28552-w
pii: 10.1038/s41598-023-28552-w
pmc: PMC9873903
doi:
Types de publication
Systematic Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1319Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023. The Author(s).
Références
Mascarenhas, M. N., Flaxman, S. R., Boerma, T., Vanderpoel, S. & Stevens, G. A. National, regional, and global trends in infertility prevalence since 1990: A systematic analysis of 277 health surveys. PLoS Med. 9, e1001356 (2012).
doi: 10.1371/journal.pmed.1001356
pubmed: 23271957
pmcid: 3525527
Sunderam, S. et al. Assisted reproductive technology surveillance - United States, 2014. MMWR Surveill. Summ. 66, 1–24. https://doi.org/10.15585/mmwr.ss6606a1 (2017).
doi: 10.15585/mmwr.ss6606a1
pubmed: 28182605
pmcid: 5829717
European Society of Human Reproduction and Embryology (ESHRE). ART fact sheet. Grimbergen, Belgium; (Available at: https://www.eshre.eu/Press-Room/Resources ); (2022).
Human Fertilization and Embryology Authority. Fertility-treatment-2019; trends and figures. (Available at: https://www.hfea.gov.uk/about-us/publications/research-and-data/fertility-treatment-2019-trends-and-figures/ ; (2022).
Xu, X. et al. The effect of chromosomal polymorphisms on the outcomes of fresh IVF/ICSI–ET cycles in a Chinese population. J. Assist. Reprod. Genet. 33, 1481–1486 (2016).
doi: 10.1007/s10815-016-0793-2
pubmed: 27544276
pmcid: 5125150
Luo, L. L. et al. Frequency and clinical manifestation of prenatal cytogenetic diagnosis of chromosomal polymorphisms in Northeast China. Taiwan. J. Obstet. Gynecol. 59, 910–915 (2020).
doi: 10.1016/j.tjog.2020.09.019
pubmed: 33218411
Rawal, L., Kumar, S., Mishra, S. R., Lal, V. & Bhattacharya, S. K. Clinical manifestations of chromosomal anomalies and polymorphic variations in patients suffering from reproductive failure. J. Hum. Reprod. Sci. 13, 209–215 (2020).
doi: 10.4103/jhrs.JHRS_46_19
pubmed: 33311907
pmcid: 7727889
Wyandt, H. E. & Tonk, V. S. Human chromosome variation: Heteromorphism and polymorphism (Springer, 2011).
Cheng, R. et al. Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: A 7-year retrospective study. Reprod. BioMed. Online 35, 72–80 (2017).
doi: 10.1016/j.rbmo.2017.03.022
pubmed: 28479119
Guo, T. et al. The role of male chromosomal polymorphism played in spermatogenesis and the outcome of IVF/ICSI-ET treatment. Int. J. Androl. 35, 802–809 (2012).
doi: 10.1111/j.1365-2605.2012.01284.x
pubmed: 22712895
Madon, P. F., Athalye, A. S. & Parikh, F. R. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod. BioMed. Online 11, 726–732 (2005).
doi: 10.1016/S1472-6483(10)61691-4
pubmed: 16417737
Gosden, J. R., Lawrie, S. S. & Gosden, C. M. Satellite DNA sequences in the human acrocentric chromosomes: Information from translocations and heteromorphisms. Am. J. Hum. Genet. 33, 243–251 (1981).
pubmed: 6163355
pmcid: 1684944
Karpen, G. & Endows, S. Meiosis: chromosome behaviours and spindle dynamics. In Dynamics of Cell Division (eds Endow, S. A. & Glover, D. M.) 203–236 (Oxford University Press, Oxford, 1998).
Sipek, A. Jr. et al. Heterochromatin variants in human karyotypes: A possible association with reproductive failure. Reprod. BioMed. Online 29, 245–250 (2014).
doi: 10.1016/j.rbmo.2014.04.021
pubmed: 24928354
Erwinsyah, R., Riandi and Nurjhani M. Relevance of Human Chromosome Analysis Activities against Mutation Concept in Genetics Course. In IOP Conference Series: Materials Science and Engineering. 180: 012285. (2017)
Shaffer, L. G., McGovan-Jordan, L. & Schmid, M. ISCN 2013: An international system for human cytogenetic nomenclature (Karger Medical and Scientific Publishers, 2013).
Li, S. J. et al. Chromosomal polymorphisms associated with reproductive outcomes after IVF-ET. J. Assist. Reprod. Genet. 37, 1703–1710 (2020).
doi: 10.1007/s10815-020-01793-8
pubmed: 32451813
pmcid: 7376992
Ralapanawe, M. S. B. et al. Chromosomal polymorphisms in assisted reproduction: A systematic review and meta-analysis. Hum. Fert. https://doi.org/10.1080/14647273.2022.2051614 (2022).
doi: 10.1080/14647273.2022.2051614
Yakin, K., Balaban, B. & Urman, B. Is there a possible correlation between chromosomal variants and spermatogenesis?. Int. J. Urol. 12, 984–989 (2005).
doi: 10.1111/j.1442-2042.2005.01185.x
pubmed: 16351655
Orvieto, R. et al. Do human embryo have the ability of self-correction?. Reprod. Biol. Endocrinol. 18, 1–6 (2020).
doi: 10.1186/s12958-020-00650-8
Santos, M. A. et al. The fate of the mosaic embryo: Chromosomal constitution and development of day 4, 5 and 8 human embryos. Hum. Reprod. 25, 1916–1926 (2010).
doi: 10.1093/humrep/deq139
pubmed: 20519247
Mantikou, E., Wong, K. M., Repping, S. & Mastenbroek, S. Molecular origin of mitotic aneuploidies in preimplantation embryos. Biochim. Biophys. Acta. 1822, 1921–1930 (2012).
doi: 10.1016/j.bbadis.2012.06.013
pubmed: 22771499
Daughtry, B. L. et al. Single-cell sequencing of primate preimplantation embryos reveals chromosome elimination via cellular fragmentation and blastomere exclusion. Genome. Res. 29, 367–382 (2019).
doi: 10.1101/gr.239830.118
pubmed: 30683754
pmcid: 6396419
Bolton, H. et al. Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nat. Commun. 7, 1–12 (2016).
doi: 10.1038/ncomms11165
Orvieto, R., Aizer, A. & Gleiche, N. Is there still a rationale for non-invasive PGT-A by analysis of cell-free DNA released by human embryos into culture medium. Hum. Reprod. 36, 1186–1190 (2021).
doi: 10.1093/humrep/deab042
pubmed: 33686429
Gleicher, N., Kushnir, V. A. & Barad, D. H. Worldwide decline of IVF birth rates and its probable causes. Hum. Reprod. Open 2019, hoz017 (2019).
doi: 10.1093/hropen/hoz017
pubmed: 31406934
pmcid: 6686986