Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos

Gardner RJM, Amor DJ. Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling. Oxford: Oxford University Press; 2018.

Moorthie S, Congenital Disorders Expert Group, Blencowe H, Darlison MW, Gibbons S, Lawn JE et al. Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide. J Community Genet. 2018;9:377–386.

Levy B, Sigurjonsson S, Pettersen B, Maisenbacher MK, Hall MP, Demko Z, et al. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol. 2014;124:202–9.

Article  CAS  PubMed  Google Scholar 

Nagaoka SI, Hassold TJ, Hunt PA. Human aneuploidy: mechanisms and new insights into an age-old problem. Nat Rev Genet. 2012;13:493–504.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Segawa T, Kuroda T, Kato K, Kuroda M, Omi K, Miyauchi O, et al. Cytogenetic analysis of the retained products of conception after missed abortion following blastocyst transfer: a retrospective, large-scale, single-centre study. Reprod Biomed Online. 2017;34:203–10.

Article  PubMed  Google Scholar 

Ishihara O, Jwa SC, Kuwahara A, Katagiri Y, Kuwabara Y, Hamatani T, et al. Assisted reproductive technology in Japan: A summary report for 2017 by the Ethics Committee of the Japan Society of Obstetrics and Gynecology. Reprod Med Biol. 2020;19:3–12.

Article  PubMed  Google Scholar 

Rosenwaks Z, Handyside AH. Is preimplantation genetic testing for aneuploidy an essential tool for embryo selection or a costly ‘add-on’ of no clinical benefit? Fertil Steril. 2018;110:351–2.

Article  PubMed  Google Scholar 

Victor AR, Griffin DK, Brake AJ, Tyndall JC, Murphy AE, Lepkowsky LT, Lal A, Zouves CG, Barnes FL, McCoy RC, Viotti M. Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst. Hum Reprod. 2019;34(1):181–92.

Article  CAS  PubMed  Google Scholar 

Rosenwaks Z, Handyside AH, Fiorentino F, Gleicher N, Paulson RJ, Schattman GL, Scott RT, Summers MC, Treff NR, Xu K. The pros and cons of preimplantation genetic testing for aneuploidy: clinical and laboratory perspectives. Fertil Steril. 2018;110(3):353–61.

Article  PubMed  Google Scholar 

Fiorentino F, Bono S, Biricik A, Nuccitelli A, Cotroneo E, Cottone G, et al. Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Hum Reprod. 2014;29:2802–13.

Article  CAS  PubMed  Google Scholar 

McCoy RC. Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm. Trends Genet. 2017;33:448–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Handyside AH, McCollin A, Summers MC, Ottolini CS. Copy number analysis of meiotic and postzygotic mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryos. Prenat Diagn. 2021;41:525–35.

Article  CAS  PubMed  Google Scholar 

Biggers JD, Summers MC. Choosing a culture medium: making informed choices. Fertil Steril. 2008;90:473–83.

Article  PubMed  Google Scholar 

Summers MC, Bird S, Mirzai FM, Thornhill A, Biggers JD. Human preimplantation embryo development in vitro: a morphological assessment of sibling zygotes cultured in a single medium or in sequential media. Hum Fertil. 2013;16:278–85.

Article  Google Scholar 

Sfontouris IA, Martins WP, Nastri CO, Viana IGR, Navarro PA, Raine-Fenning N, et al. Blastocyst culture using single versus sequential media in clinical IVF: a systematic review and meta-analysis of randomized controlled trials. J Assist Reprod Genet. 2016;33:1261–72.

Article  PubMed  PubMed Central  Google Scholar 

Werner MD, Hong KH, Franasiak JM, Forman EJ, Reda CV, Molinaro TA, et al. Sequential versus Monophasic Media Impact Trial (SuMMIT): a paired randomized controlled trial comparing a sequential media system to a monophasic medium. Fertil Steril. 2016;105:1215–21.

Article  CAS  PubMed  Google Scholar 

Munné S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Fertilization and early embryology: Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod. 1993;8:2185–91.

Article  PubMed  Google Scholar 

Fragouli E, Alfarawati S, Spath K, Jaroudi S, Sarasa J, Enciso M, et al. The origin and impact of embryonic aneuploidy. Hum Genet. 2013;132:1001–13.

Article  PubMed  Google Scholar 

Capalbo A, Rienzi L, Cimadomo D, Maggiulli R, Elliott T, Wright G, et al. Correlation between standard blastocyst morphology, euploidy and implantation: an observational study in two centers involving 956 screened blastocysts. Hum Reprod. 2014;29:1173–81.

Article  PubMed  Google Scholar 

Qi S-T, Liang L-F, Xian Y-X, Liu J-Q, Wang W. Arrested human embryos are more likely to have abnormal chromosomes than developing embryos from women of advanced maternal age. J Ovarian Res. 2014;7:65.

Article  PubMed  PubMed Central  Google Scholar 

Maurer M, Ebner T, Puchner M, Mayer RB, Shebl O, Oppelt P, et al. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest. Int J Fertil Steril. 2015;9:346–53.

CAS  PubMed  PubMed Central  Google Scholar 

Regin M, Spits C, Sermon K. On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle. Mol Hum Reprod. 2022;28:gaac008.

Campbell A, Fishel S, Bowman N, Duffy S, Sedler M, Hickman CFL. Modelling a risk classification of aneuploidy in human embryos using non-invasive morphokinetics. Reprod Biomed Online. 2013;26:477–85.

Article  PubMed  Google Scholar 

Vera-Rodriguez M, Chavez SL, Rubio C, Reijo Pera RA, Simon C. Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis. Nat Commun. 2015;6:7601.

Article  PubMed  Google Scholar 

Lagalla C, Tarozzi N, Sciajno R, Wells D, Di Santo M, Nadalini M, et al. Embryos with morphokinetic abnormalities may develop into euploid blastocysts. Reprod Biomed Online. 2017;34:137–46.

Article  CAS  PubMed  Google Scholar 

Gorodeckaja J, Neumann S, McCollin A, Ottolini CS, Wang J, Ahuja K, et al. High implantation and clinical pregnancy rates with single vitrified-warmed blastocyst transfer and optional aneuploidy testing for all patients. Hum Fertil. 2020;23:256–67.

Article  CAS  Google Scholar 

Alpha Scientists in Reproductive Medicine and ESHRE Special Interest Group of Embryology. The Istanbul consensus workshop on embryo assessment: proceedings of an expert meeting. Hum Reprod. 2011;26:1270–83.

Ottolini CS, Kitchen J, Xanthopoulou L, Gordon T, Summers MC, Handyside AH. Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro. Sci Rep. 2017;7:9744.

Article  PubMed  PubMed Central  Google Scholar 

Rubio I, Kuhlmann R, Agerholm I, Kirk J, Herrero J, Escribá M-J, et al. Limited implantation success of direct-cleaved human zygotes: a time-lapse study. Fertil Steril. 2012;98:1458–63.

Article  PubMed  Google Scholar 

Ciray HN, Campbell A, Agerholm IE, Aguilar J, Chamayou S, Esbert M, et al. Proposed guidelines on the nomenclature and annotation of dynamic human embryo monitoring by a time-lapse user group. Hum Reprod. 2014;29:2650–60.

Article  PubMed  Google Scholar 

Kalatova B, Jesenska R, Hlinka D, Dudas M. Tripolar mitosis in human cells and embryos: occurrence, pathophysiology and medical implications. Acta Histochem. 2015;117:111–25.

Article  CAS  PubMed  Google Scholar 

Coticchio G, Barrie A, Lagalla C, Borini A, Fishel S, Griffin D, et al. Plasticity of the human preimplantation embryo: developmental dogmas, variations on themes and self-correction. Hum Reprod Update. 2021;27:848–65.

Article  PubMed  Google Scholar 

McCollin A, Swann RL, Summers MC, Handyside AH, Ottolini CS. Abnormal cleavage and developmental arrest of human preimplantation embryos in vitro. Eur J Med Genet. 2020;63:103651.

Article  PubMed  Google Scholar 

Wickham H. ggplot2. Wiley Interdisc Rev Comput Stat. 2011;3(2):180-5.

Sjoberg, D. ggsankey: Sankey, Alluvial and Sankey Bump Plots. GitHub. 2021. https://github.com/davidsjoberg/ggsankey. Accessed 20 May 2022.

Rizopoulos, D. GLMMadaptive: Generalized Linear Mixed Models using Adaptive Gaussian Quadrature. GitHub. 2023. https://github.com/drizopoulos/GLMMadaptive. Accessed 20 May 2022.

Bates D, Mächler M, Bolker B, Walker S. Fitting linear mixed-effects models using lme4. J Stat Softw. 2015;67:1–48.

Article  Google Scholar 

Leeper TJ, Arnold J, Arel-Bundock V, Long JA. margins: Marginal Effects for Model Objects. GitHub. 2021. https://github.com/leeper/margins. Accessed 20 May 2022.

McCoy RC, Demko ZP, Ryan A, Banjevic M, Hill M, Sigurjonsson S, et al. Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development. PLoS Genet. 2015;11: e1005601.

Article  PubMed  PubMed Central  Google Scholar 

Vega M, Breborowicz A, Moshier EL, McGovern PG, Keltz MD. Blastulation rates decline in a linear fashion from euploid to aneuploid embryos with single versus multiple chromosomal errors. Fertil Steril. 2014;102(2):394–8.

Article  PubMed  Google Scholar 

Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014;101:656-663.e1.

Article  PubMed  Google Scholar 

Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, et al. Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial. Am J Hum Genet. 2021;108:2238–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reichmann J, Nijmeijer B, Hossain MJ, Eguren M, Schneider I, Politi AZ, Roberti MJ, Hufnagel L, Hiiragi T, Ellenberg J. Dual-spindle formation in zygotes keeps parental genomes apart in early mammalian embryos. Science. 2018;361(6398):189–93.

Article  CAS  PubMed  Google

留言 (0)

沒有登入
gif