Garrisi JG, Colls P, Ferry KM, Zheng X, Garrisi MG, Munné S. Effect of infertility, maternal age, and number of previous miscarriages on the outcome of preimplantation genetic diagnosis for idiopathic recurrent pregnancy loss. Fertil Steril. 2009;92:288–95.
Scott RT Jr, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;97:870–5.
Grifo JA, Hodes-Wertz B, Lee HL, Amperloquio E, Clarke-Williams M, Adler A. Single thawed euploid embryo transfer improves IVF pregnancy, miscarriage, and multiple gestation outcomes and has similar implantation rates as egg donation. J Assist Reprod Genet. 2013;30:259–64.
Article PubMed PubMed Central Google Scholar
Munné S, Wells D. Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing. Fertil Steril. 2017;107:1085–91.
García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, et al. Optimized NGS approach for detection of aneuploidies and mosaicism in PGT-A and imbalances in PGT-SR. Genes. 2020. https://doi.org/10.3390/genes11070724.
Article PubMed PubMed Central Google Scholar
Schoolcraft WB, Fragouli E, Stevens J, Munne S, Katz-Jaffe MG, Wells D. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2010;94:1700–6.
Kim J, Tao X, Cheng M, Steward A, Guo V, Zhan Y, et al. The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy. Fertil Steril. 2022;117:315–23.
Article CAS PubMed Google Scholar
Paulson RJ, Treff NR. Isn’t it time to stop calling preimplantation embryos “mosaic”? FS Rep. 2020;1:164–5.
Treff NR, Marin D. The “mosaic” embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy. Fertil Steril. 2021;116:1205–11.
Chuang TH, Chang YP, Lee MJ, Wang HL, Lai HH, Chen SU. The incidence of mosaicism for individual chromosome in human blastocysts is correlated with chromosome length. Front Genet. 2020;11:565348.
Article CAS PubMed Google Scholar
Zhang X, Zheng PS. Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development. J Assist Reprod Genet. 2024;41:1127–41.
Article PubMed PubMed Central Google Scholar
Popovic M, Dhaenens L, Boel A, Menten B, Heindryckx B. Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma. Hum Reprod Update. 2020;26:313–34.
Article CAS PubMed Google Scholar
Sachdeva K, Upadhyay D, Discutido R, Varghese MM, Albuz F, Almekosh R, et al. Low gonadotropin dosage reduces aneuploidy in human preimplantation embryos: first clinical study in a UAE population. Genet Test Mol Biomarkers. 2018;22:630–4.
Article CAS PubMed Google Scholar
Palmerola KL, Amrane S, De Los Angeles A, Xu S, Wang N, de Pinho J, et al. Replication stress impairs chromosome segregation and preimplantation development in human embryos. Cell. 2022;185:2988-3007.e20.
Article CAS PubMed Google Scholar
Ai X, Shi Y, Liu LW, Xu Y, Zhang H, Liu Y, et al. Risk factors related to chromosomal mosaicism in human blastocysts. Reprod Biomed Online. 2022;45:54–62.
Article CAS PubMed Google Scholar
Capalbo A, Rienzi L. Mosaicism between trophectoderm and inner cell mass. Fertil Steril. 2017;107:1098–106.
Viotti M, Greco E, Grifo JA, Madjunkov M, Librach C, Cetinkaya M, et al. Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy. Fertil Steril. 2023;120:957–66.
Article CAS PubMed Google Scholar
Spinella F, Fiorentino F, Biricik A, Bono S, Ruberti A, Cotroneo E, et al. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril. 2018;109:77–83.
Munné S, Weier HU, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod. 1994;51:373–9.
Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20:571–81.
Article CAS PubMed Google Scholar
Zhao H, Tao W, Li M, Liu H, Wu K, Ma S. Comparison of two protocols of blastocyst biopsy submitted to preimplantation genetic testing for aneuploidies: a randomized controlled trial. Arch Gynecol Obstet. 2019;299:1487–93.
Wu L, Jin L, Chen W, Liu JM, Hu J, Yu Q, et al. The true incidence of chromosomal mosaicism after preimplantation genetic testing is much lower than that indicated by trophectoderm biopsy. Human Reproduct (Oxford, England). 2021;36:1691–701.
Navratil R, Horak J, Hornak M, Kubicek D, Balcova M, Tauwinklova G, et al. Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies. Mol Hum Reprod. 2020;26:269–76.
Article CAS PubMed PubMed Central Google Scholar
Marin D, Xu J, Treff NR. Preimplantation genetic testing for aneuploidy: a review of published blastocyst reanalysis concordance data. Prenat Diagn. 2021;41:545–53.
Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. N Engl J Med. 2015;373:2089–90.
Victor AR, Tyndall JC, Brake AJ, Lepkowsky LT, Murphy AE, Griffin DK, et al. One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies. Fertil Steril. 2019;111:280–93.
Munné S, Spinella F, Grifo J, Zhang J, Beltran MP, Fragouli E, et al. Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution next generation sequencing-further insights. Eur J Med Genet. 2020;63:103741.
Viotti M, Victor AR, Barnes FL, Zouves CG, Besser AG, Grifo JA, et al. Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use. Fertil Steril. 2021;115:1212–24.
Article CAS 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
Wen X, Li Z, Cheng L, Huo J, Yu W, Ou Z, et al. Feasibility of preimplantation genetic testing for aneuploidy on frozen-thawed embryos following conventional IVF insemination. Front Endocrinol. 2024;15:1441014.
Gardner DK, Lane M, Stevens J, Schlenker T, Schoolcraft WB. Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer. Fertil Steril. 2000;73:1155–8.
Article CAS PubMed Google Scholar
Sanders KD, Griffin DK, Martell HJ, Blazek J, Large M, Gordon T. What proportion of embryos should be considered for transfer following a mosaic diagnosis? A study of 115 clinics from a central diagnostic laboratory. J Assist Reprod Genet. 2023;40:653–64.
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