Prevalence, types and possible factors influencing mosaicism in IVF blastocysts: results from a single setting

Coll, Lluc; Parriego, M; Mateo, Silvia María; García-Monclús, Silvia; Rodríguez, Ignacio; Boada, Montserrat; Coroleu, Buenaventura; Polyzos, Nikolaos P.; Vidal, Francesca; Veiga, Anna

doi:10.1016/j.rbmo.2020.09.025

Cited by 21 publications

(12 citation statements)

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“…They demonstrated the results of a large multicenter study, in which they examined the pattern and prevalence of chromosomal constitution in 2280 mosaic TE biopsied embryos. In concordance with other studies, they observed that 25% of mosaicism affects segmental gain or loss [33,57]. Additionally, the chromosomes involved in mosaic aneuploidy were different from those involved in segmental mosaicism.…”

Section: Mosaicism and Segmental Aberrationssupporting

confidence: 89%

“…Segmental aneuploidy indicates that segmental gains and losses are mostly paternally derived [62,63]. According to Coll's results, paternal age appears to be the only factor that significantly and independently increased mosaicism incidence [57]. All these observations can give insight into the understanding of chromosomal mosaicism's origin and nature.…”

Section: Mosaicism and Segmental Aberrationsmentioning

confidence: 94%

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Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos

Bouba

Hatzi

Ladias

et al. 2021

JDB

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Applications and indications of assisted reproduction technology are expanding, but every new approach is under scrutiny and thorough consideration. Recently, groups of assisted reproduction experts have presented data that support the clinical use of mosaic preimplantation embryos at the blastocyst stage, previously excluded from transfer. In the light of published contemporary studies, with or without clinical outcomes, there is growing evidence that mosaic embryos have the capacity for further in utero development and live birth. Our in-depth discussion will enable readers to better comprehend current developments. This expansion into the spectrum of ART practices requires further evidence and further theoretical documentation, basic research, and ethical support. Therefore, if strict criteria for selecting competent mosaic preimplantation embryos for further transfer, implantation, fetal growth, and healthy birth are applied, fewer embryos will be excluded, and more live births will be achieved. Our review aims to discuss the recent literature on the transfer of mosaic preimplantation embryos. It also highlights controversies as far as the clinical utilization of preimplantation embryos concerns. Finally, it provides the appropriate background to elucidate and highlight cellular and genetic aspects of this novel direction.

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Section: Mosaicism and Segmental Aberrationssupporting

confidence: 89%

Section: Mosaicism and Segmental Aberrationsmentioning

confidence: 94%

Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos

Bouba

Hatzi

Ladias

et al. 2021

JDB

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“…Moreover, our data on the frequency of involvement in chromosome rearrangements as a function of their length contradicts the findings of Munné and Wells (2017) and Coll et al (2020). They reported the predominant involvement of large chromosomes in mosaic unbalanced rearrangements in preimplantation embryos.…”

Section: Involvement Of Single Chromosomes In Rearrangementscontrasting

confidence: 99%

“…When comparing the data of our study to the spectrum of chromosomal abnormalities with those obtained from preimplantation diagnostics (Coll et al 2020), in both, it is noted that the most common chromosomal abnormality was deletion. However, we did not find exceptionally high involvement of chromosomes 1, 5, and 9, in contrast to the data presented by Coll et al (2020).…”

Section: Involvement Of Single Chromosomes In Rearrangementsmentioning

confidence: 85%

“…Greco et al (2020) were the first to demonstrate that mosaic embryos may have the potential for giving birth to healthy offspring. Among mosaic embryos, one-third of the mosaic cases were segmental mosaics (Liu et al 2017;Nakhuda et al 2018;Coll et al 2020). There is no consistency among results of published studies on the clinical outcomes of segmental mosaicism regarding their capacity to implant and develop to a fetus (Liu et al 2017;Fragouli et al 2017;Victor et al 2019).…”

Section: Introductionmentioning

confidence: 99%

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Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender

Kovaleva¹,

Cotter²

2022

J Appl Genetics

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Mosaicism for unbalanced chromosomal rearrangements segmental mosaicism (SM) is rare, both in patients referred for cytogenetic testing and in prenatal diagnoses. In contrast, in preimplantation embryos SM is a frequent finding and, therefore, is even more challenging. However, there is no consistency among results of published studies on the clinical outcomes of embryos with SM, primarily due to the small number of reported cases. Moreover, there is the problem of predicting the potential for the optimal development of a mosaic embryo to a healthy individual. Therefore, we suggested comparing factors predisposing to favorable and poor prognoses, identified in postnatal and prenatal cohorts of SM carriers, with those obtained from studies on preimplantation embryos. We analyzed 580 published cases of SM including (i) postnatally diagnosed affected carriers, (ii) clinically asymptomatic carriers, (iii) prenatally diagnosed carriers, and (iv) miscarriages. We observed a concordance with preimplantation diagnoses regarding the clinical significance of the extent of mosaicism as well as a predominance of deletions over other types of rearrangements. However, there is no concordance regarding excessive involvement of chromosomes 1, 5, and 9 in unbalanced rearrangements and a preferential involvement of larger chromosomes compared to short ones. Paternal age was not found to be associated with SM in postnatally disease-defined individuals. We have identified maternal age and preferential involvement of chromosome 18 in rearrangements associated with clinical manifestations. Male predominance was found among normal pregnancy outcomes and among disease-defined carriers of rearrangements resulting in a gain of genomic material. Female predominance was found among abnormal pregnancy outcomes, among disease-defined carriers of loss and gain/loss rearrangements, and among transmitting carriers of gonadal SM, both affected and asymptomatic. According to data obtained from “post-embryo” studies, clinical manifestations of chromosomal imbalance are associated with a high proportion of abnormal cells, female gender, the type of rearrangement and involved chromosome(s), and maternal age. We believe these data are instructive in the challenging medical genetic counseling of parents faced with no option other than transfer of an embryo with segmental mosaicism.

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Excessive Exogenous Gonadotropins and Genetic and Pregnancy Outcomes After Euploidy Embryo Transfer

Ni,

Zhou,

Liu

et al. 2024

JAMA Netw Open

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ImportanceThe safety of exogenous gonadotropin treatment, based on its effect on embryos and pregnancy outcomes, remains inconclusive.ObjectiveTo evaluate the associations of different doses and durations of gonadotropins with embryonic genetic status and pregnancy outcomes after euploid embryo transfer in couples with infertility.Design, Setting, and ParticipantsThis study was a post hoc analysis of a multicenter randomized clinical trial (RCT) conducted at 14 reproductive centers throughout China from July 2017 to June 2018 that evaluated the cumulative live birth rate with or without preimplantation genetic testing for aneuploidy (PGT-A) among couples with infertility and good prognosis. The PGT-A group from the original RCT was selected for secondary analysis. Patients were divided into 4 groups according to the total dosage of exogenous gonadotropins and treatment duration: group 1 (≤1500 IU and &lt;10 days), group 2 (≤1500 IU and ≥10 days), group 3 (&gt;1500 IU and &lt;10 days), and group 4 (&gt;1 500 IU and ≥10 days). Group 1 served as the control group. Data were analyzed from June through August 2023.InterventionsBlastocyst biopsy and PGT-A.Main outcomes and measuresThe primary outcomes were embryonic aneuploidy, embryonic mosaicism, and cumulative live birth rates after euploid embryo transfer.ResultsA total of 603 couples (mean [SD] age of prospective mothers, 29.13 [3.61] years) who underwent PGT-A were included, and 1809 embryos were screened using next-generation sequencing. The embryo mosaicism rate was significantly higher in groups 2 (44 of 339 embryos [13.0%]; adjusted odds ratio [aOR], 1.69 [95% CI, 1.09-2.64]), 3 (27 of 186 embryos [14.5%]; aOR, 1.98 [95% CI, 1.15-3.40]), and 4 (82 of 651 embryos [12.6%]; aOR, 1.60 [95% CI, 1.07-2.38]) than in group 1 (56 of 633 embryos [8.8%]). There were no associations between gonadotropin dosage or duration and the embryo aneuploidy rate. The cumulative live birth rate was significantly lower in groups 2 (83 of 113 couples [73.5%]; aOR, 0.49 [95% CI, 0.27-0.88]), 3 (42 of 62 couples [67.7%]; aOR, 0.41 [95% CI, 0.21-0.82]), and 4 (161 of 217 couples [74.2%]; aOR, 0.53 [95% CI, 0.31-0.89]) than in group 1 (180 of 211 couples [85.3%]).Conclusions and relevanceIn this study, excessive exogenous gonadotropin administration was associated with increased embryonic mosaicism and decreased cumulative live birth rate after euploid embryo transfer in couples with a good prognosis. These findings suggest that consideration should be given to minimizing exogenous gonadotropin dosage and limiting treatment duration to improve embryo outcomes and increase the live birth rate.Trial RegistrationClinicalTrials.gov Identifier: NCT03118141

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Prevalence, types and possible factors influencing mosaicism in IVF blastocysts: results from a single setting

Cited by 21 publications

References 50 publications

Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos

Biological and Clinical Significance of Mosaicism in Human Preimplantation Embryos

Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender

Excessive Exogenous Gonadotropins and Genetic and Pregnancy Outcomes After Euploidy Embryo Transfer

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