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Preimplantation genetic testing for aneuploidy (PGT-A) remains one of the most controversial topics in reproductive medicine. With more than 40% of in vitro fertilization cycles in the United States reportedly involving PGT, both those in favor of and those opposed to PGT-A have significant interest in the efficacy of PGT-A. Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as “mosaic.” This review addresses several misconceptions and misinterpretations of data surrounding the genetic analysis and prediction of mosaicism in the preimplantation embryo. Preimplantation genetic testing for aneuploidy (PGT-A) remains one of the most controversial topics in reproductive medicine. With more than 40% of in vitro fertilization cycles in the United States reportedly involving PGT, both those in favor of and those opposed to PGT-A have significant interest in the efficacy of PGT-A. Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as “mosaic.” This review addresses several misconceptions and misinterpretations of data surrounding the genetic analysis and prediction of mosaicism in the preimplantation embryo. DIALOG: You can discuss this article with its authors and other readers at https://www.fertstertdialog.com/posts/33151 DIALOG: You can discuss this article with its authors and other readers at https://www.fertstertdialog.com/posts/33151 Preimplantation genetic testing (PGT) requires the application of significant and often error-prone DNA amplification methods to obtain a result. In addition, the process by which cells are obtained from the embryo and the quality of the embryo from which cells are obtained for PGT vary widely. These and other methodological challenges result in difficulty in distinguishing true signal from technical noise. The application of PGT to the diagnosis of monogenic disorders (PGT-M) serves as an example of the ability to develop methods that improve accuracy and overcome these and other technical challenges. Several important advances, including parallel analysis of mutation-linked markers and prevention and detection of DNA contamination, have helped avoid misdiagnoses and improve accuracy. In contrast, the uninformed introduction of “mosaic" diagnoses has led to a significant reduction in the accuracy of preimplantation genetic testing for aneuploidy (PGT-A). Clinical manifestation of this type of inaccuracy is exemplified by the STAR trial (1Munné S. Kaplan B. Frattarelli J.L. Child T. Nakhuda G. Shamma F.N. et al.Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial.Fertil Steril. 2019; 112: 1071-1079.e7Abstract Full Text Full Text PDF PubMed Scopus (209) Google Scholar), which reported an overall 49% (unusually high) aneuploidy rate and failed to demonstrate clinical utility in patients under the age of 35 years. Laboratories in the study that included “mosaic" diagnoses reported aneuploidy rates of 33% to 72%, whereas laboratories not including “mosaic" diagnoses reported aneuploidy rates of 0% to 43% in the same age group. This indicates that the inclusion of mosaic diagnoses results in overestimation of the presence of chromosomal abnormalities. False positive mosaicism undoubtedly plays a significant role in the failure to demonstrate improved outcomes with PGT-A, particularly in patients under the age of 35 years. Mosaicism in the preimplantation embryo is defined as a mixture of cells with different karyotypes. The most commonly used methods of predicting mosaicism involve the use of arbitrary chromosome copy number thresholds (i.e., from 20% to 80%) (2Cram D.S. Leigh D. Handyside A. Rechitsky L. Xu K. Harton G. et al.PGDIS position statement on the transfer of mosaic embryos 2019.Reprod Biomed Online. 2019; 39: e1-e4PubMed Scopus (61) Google Scholar) from next-generation sequencing data (Fig. 1). If a chromosome’s copy number falls outside the threshold for a normal disomic copy number of 2 (i.e., between 1.8 and 2.2) and outside the threshold for uniform monosomy or trisomy (i.e., below 1.2 or above 2.8), that chromosome is determined to fall in the “mosaic range” (1.2–1.8 or 2.2–2.8). In fact, several studies have published chromosome copy number data after analyzing artificial mixtures of cell lines with different karyotypes, thereby mimicking an aneuploid/euploid mosaicism scenario in a trophectoderm biopsy (3Goodrich D. Xing T. Tao X. Lonczak A. Zhan Y. Landis J. et al.Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy.J Assist Reprod Genet. 2017; 34: 975-981Crossref PubMed Scopus (27) Google Scholar, 4Greco E. Minasi M.G. Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts.N Engl J Med. 2015; 373: 2089-2090Crossref PubMed Scopus (312) Google Scholar, 5Maxwell S.M. Colls P. Hodes-Wertz B. McCulloh D.H. McCaffrey C. Wells D. et al.Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing.Fertil Steril. 2016; 106: 1414-1419.e5Abstract Full Text Full Text PDF PubMed Scopus (119) Google Scholar). Intermediate chromosome copy number profiles are indeed observed for mosaic aneuploidies in cell line mixtures, and researchers have considered these data as “preclinical validation” for the detection of mosaicism in a trophectoderm biopsy. Unfortunately, it is inaccurate to assume that an embryo is truly mosaic according to this “intermediate copy number” strategy (6Paulson R.J. Treff N.R. Isn't it time to stop calling preimplantation embryos mosaic?.F S Rep. 2020; 1: 164-165Abstract Full Text Full Text PDF PubMed Scopus (13) Google Scholar). Although mosaicism can be detected with the use of copy number thresholds, analysis of cell lines is an inadequate representation of the technical variation introduced by a trophectoderm biopsy. A more rigorous system to investigate the presence of mosaicism in a blastocyst involves performing multiple biopsies on the same embryo (7Capalbo A. Ubaldi F.M. Rienzi L. Scott R. Treff N. Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities.Hum Reprod. 2017; 32: 492-498PubMed Google Scholar). This method is obviously incompatible with diagnosing mosaicism on a transferable embryo, but it provides superior evidence of bona fide mosaicism. A systematic review of studies that performed rebiopsies of embryos deemed mosaic on the basis of intermediate copy numbers revealed that most of those embryos (57%) were unlikely to have been mosaic (8Marin D. Xu J. Treff N.R. Preimplantation genetic testing for aneuploidy: a review of published blastocyst reanalysis concordance data.Prenat Diagn. 2021; 41: 545-553Crossref PubMed Scopus (10) Google Scholar). In addition, embryos with chromosome copy numbers in the intermediate “mosaic have been to have a of aneuploidy with uniform the inaccuracy of predicting mosaicism by these methods A. number analysis of and aneuploidies in trophectoderm cells at the blastocyst and Diagn. 2021; 41: PubMed Scopus Google Scholar). aneuploidy from a cells in the embryo the same aneuploidy In addition, studies have that embryos deemed have reproductive to embryos deemed euploid A. Rienzi L. L. D. F. et trial of reproductive outcomes and chromosomal of from mosaic 2021; Scholar, P. X. R. K. L. L. et as mosaic after preimplantation genetic screening by of next-generation screening can have the same of as euploid Steril. Full Text Full Text PDF Google Scholar). Although are several of studies that a of of predicting mosaicism on the basis of intermediate copy number thresholds, the number of systematic is and S. and outcomes after transfer of mosaic a Med. 2021; PubMed Scopus Google Scholar) studies that clinical outcomes of “mosaic" embryo with outcomes of euploid embryo important that more than live after the transfer of “mosaic" were et S. Y. et of mosaic embryo a multicenter study and 2020; Scopus Google Scholar) performed a that included “mosaic" and euploid embryo A that mosaic embryo led to These systematic were to studies that the outcomes of euploid and “mosaic" embryo important analysis involve outcomes of “mosaic" embryo reported to of whether a with outcomes from euploid embryo In this a systematic analysis performed of studies that clinical outcomes after the transfer of embryos designated as “mosaic.” studies the use of intermediate chromosome copy number thresholds after PGT-A for on trophectoderm were included after a PubMed using the “mosaic and after systematic of and Ongoing or live were considered as A of studies were E. Minasi M.G. Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts.N Engl J Med. 2015; 373: 2089-2090Crossref PubMed Scopus (312) Google Scholar, 5Maxwell S.M. Colls P. Hodes-Wertz B. McCulloh D.H. McCaffrey C. Wells D. et al.Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing.Fertil Steril. 2016; 106: 1414-1419.e5Abstract Full Text Full Text PDF PubMed Scopus (119) Google Scholar, A. Rienzi L. L. D. F. et trial of reproductive outcomes and chromosomal of from mosaic 2021; Scholar, S. Y. et of mosaic embryo a multicenter study and 2020; Scopus Google Scholar, E. S. K. D. N. A. et of and rates the transfer of mosaic Genet. 2017; PubMed Scopus Google Scholar, S. J. E. et the and of mosaic detected with the use of next-generation sequencing.Fertil Steril. 2017; Full Text Full Text PDF PubMed Scopus Google Scholar, N. R. A. D. J. L. et embryo transfer after in vitro in with testing of a euploid live Assist Reprod Genet. 2017; 34: PubMed Scopus Google Scholar, B. R. J. J. et of mosaic Reprod Med. 2017; PubMed Scopus (27) Google Scholar, F. Fiorentino F. A. S. A. E. et of chromosomal mosaicism the clinical of in vitro fertilization Steril. Full Text Full Text PDF PubMed Scopus Google Scholar, T. C. L. R. G. et of embryos with segmental mosaicism is with a significant reduction in Steril. 2019; Full Text Full Text PDF PubMed Scopus Google Scholar, L. D. Y. Y. J. of live birth after mosaic embryo transfer with euploid embryo Assist Reprod Genet. 2019; PubMed Scopus Google Scholar, et mosaic embryos in a single and result in Steril. 2019; Full Text Full Text PDF PubMed Scopus Google Scholar, Healthy live after mosaic blastocyst with the use of next-generation J 2019; PubMed Scopus Google Scholar, McCulloh D.H. are patients with mosaic after genetic Steril. 2019; Full Text Full Text PDF PubMed Scopus Google Scholar, B. Y. The of mosaic aneuploid after intrauterine A 2020; PubMed Scopus Google Scholar, S. F. J. J. E. et outcomes after the transfer of as mosaic by sequencing J Genet. 2020; PubMed Scopus Google Scholar, S. B. C. 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Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities.Hum Reprod. 2017; 32: 492-498PubMed Google Scholar). clinical outcomes after the transfer of embryos designated as be with the that of these embryos have been as mosaic and are euploid or DIALOG: You can discuss this article with its authors and other readers at https://www.fertstertdialog.com/posts/33151
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