Mosaic embryo transfer after oocyte in vitro maturation in combination with non-invasive prenatal testing (NIPT)—first report of a euploid live birth

Inoue, Naomi; López, Rosmary; Delgado, Andrea; Nuñez, Denisse; Portella, Jimmy; Noriega-Hoces, Luis; Guzmán, Luis

doi:10.1007/s10815-017-0974-7

Cited by 11 publications

(7 citation statements)

References 56 publications

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“…Dynamic genetic self-correction during the embryo growth has been reported (Kyle et al, 2015;Lagalla et al, 2017;Lee and Kiessling, 2017) and mosaic aneuploid embryos transferred also showed the potential to develop to healthy euploid newborns (Greco et al, 2015;Inoue et al, 2017). Therefore, for women with mosaic embryos but no euploid embryos, the selection of mosaic embryos for ET might be an option.…”

Section: Nics May Provide An Insight Into Whether Mosaic Embryos Detected By Te-pgt Should Be Transferredmentioning

confidence: 99%

A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

Chen

Sun

et al. 2021

Front. Cell Dev. Biol.

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Preimplantation genetic testing for aneuploidy (PGT-A) is widely used to select embryos having normal ploidy for transfer, but they require an invasive embryo biopsy procedure that may cause harm to the embryos and offspring. Therefore, a non-invasive approach to select embryos with normal ploidy for implantation is highly demanded. Non-invasive chromosome screening (NICS) methods have been proposed and applied in clinical practices, but a large-scale validation versus invasive preimplantation genetic testing (PGT) and the whole embryo ploidy has not yet been reported. In this study, by using the whole embryo as a gold standard, we validated NICS assay in a total of 265 donated human embryos and compared its performance with conventional trophectoderm (TE) biopsy PGT. The NICS assay showed promising performance, which is comparable to PGT-TE [sensitivity: 87.36 versus 89.66%; specificity: 80.28 versus 82.39%; negative predictive value (NPV): 91.2 versus 92.86%; positive predictive value (PPV): 73.08 versus 75.73%]. Additionally, NICS provides a scoring system for prioritizing embryo: embryos can be categorized into three groups with euploid prediction probabilities of 90.0, 27.8, and 72.2% for group euploid (A), aneuploid (B), and multiple abnormal chromosomes (MAC) (C), respectively. When an addition of TE assay is provided as a secondary validation, the accuracy significantly increases from 72.2 to 84.3% for group B and from 27.8 to 83.3% for group C. Our results suggest that NICS is a good rule in assay for identifying chromosomal normal embryos for transfer and might serve as a non-invasive approach for prioritizing embryos instead of preventing transfer of aneuploid and MAC embryos. It will help to ensure the safety of offspring and efficient utilization of embryos.

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Section: Nics May Provide An Insight Into Whether Mosaic Embryos Detected By Te-pgt Should Be Transferredmentioning

confidence: 99%

A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

Chen

Sun

et al. 2021

Front. Cell Dev. Biol.

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“…We used the Veriseq NGS (Illumina, San Diego, CA, USA) platform. Validation of mosaicism with mixing experiments to determine mosaicism levels in TE biopsies and define the proper thresholds to discriminate levels of mosaicism has been previously performed [ 6 , 15 ]. We conducted proof-of-principle mixing experiments to evaluate the sensitivity of the Illumina Veriseq NGS platform in mosaicism detection.…”

Section: Pgt-a Using Hr-ngsmentioning

confidence: 99%

Clinical Outcomes of Single Mosaic Embryo Transfer: High-Level or Low-Level Mosaic Embryo, Does It Matter?

Lin

Lee

Cheng³

et al. 2020

JCM

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Recently, reports showed that embryos identified as mosaic after preimplantation genetic testing for aneuploid (PGT-A) could result in live birth with lower pregnancy and higher pregnancy loss rates compared with euploid embryos. However, the effects of mosaicism level on reproductive outcomes remain controversial. This study aimed to examine the level of mosaicism on pregnancy outcomes. Single mosaic embryo transfer was offered to 108 women who only had mosaic embryos. Mosaic embryos were labeled by utilizing next generation sequencing (NGS) based PGT-A for day 5/6 trophectoderm (TE) biopsies. TE biopsies containing < 50% abnormal cells were classified as low-level mosaicism and ≥ 50% as high-level mosaicism. To further confirm the concordance of chromosome constitution between TE and inner cell mass (ICM), 41 remaining embryos designated as mosaic blastocysts donated for research were also analyzed. Comparable live birth rate (LBR) but higher miscarriage rate (MR) was found in the high-level group. (LBR: low vs. high: 44.5% vs. 36%; p = 0.45, MR: low vs. high: 5.1% vs. 30.7%; p = 0.012). Analyses of TE and ICM from the remaining mosaic blastocysts show a poor concordance. This preliminary study demonstrated that high-level mosaic embryos could result in comparable LBR but higher MR.

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“…The reproductive potential of mosaic embryos remains controversial. 17 , 18 , 19 Our study suggests that 2.1PN‐derived embryos may not be suitable for transfer. However, in situations when no other embryos are available for transfer, patients should be adequately informed regarding the low normality rate of 2.1 PN zygotes prior to giving their consent, and transferring embryos derived from 2.1PN zygotes.…”

Section: Discussionmentioning

confidence: 81%

“…The reproductive potential of mosaic embryos remains controversial 17–19 . Our study suggests that 2.1PN‐derived embryos may not be suitable for transfer.…”

Section: Discussionmentioning

confidence: 83%

Are tri‐pronuclear embryos that show two normal‐sized pronuclei and additional smaller pronuclei useful for embryo transfer?

Takahashi

Hirata

Otsuki

et al. 2022

Reprod Medicine & Biology

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Purpose This study aimed to analyze whether tripronuclear (3PN) zygotes, with two normal‐sized PNs and an additional smaller PN (2.1PN), can be used for embryo transfer. Method(s) A retrospective embryo cohort study was conducted on 695 patients who underwent intracytoplasmic sperm injection treatment. Blastocyst formation rates were compared between 2.1PN and 2PN zygotes and PGT‐A analysis was performed on 15 blastocysts derived from 2.1PN zygotes. Result(s) Blastocyst formation rates were comparable between 2.1PN (43.8%) and 2PN zygotes (54.8%; p = 0.212). The rates of blastocysts with good morphology derived from 2.1 PN and 2PN zygotes were 18.8% and 25.5%, respectively. No significant differences were detected ( p = 0.383). All of the analyzed blastocysts were diploid; however, 13 of these were found to be aneuploid, with a further two being mosaic. Conclusion Our results suggest that 2.1PN embryos can reach blastocyst stage. These blastocysts were diploid, however, predominantly aneuploid, and therefore could not be used for embryo transfer.

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Mosaic embryo transfer after oocyte in vitro maturation in combination with non-invasive prenatal testing (NIPT)—first report of a euploid live birth

Abstract: Our finding confirmed that mosaic embryo transfer would bring a healthy offspring.

Cited by 11 publications

References 56 publications

A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

Clinical Outcomes of Single Mosaic Embryo Transfer: High-Level or Low-Level Mosaic Embryo, Does It Matter?

Are tri‐pronuclear embryos that show two normal‐sized pronuclei and additional smaller pronuclei useful for embryo transfer?

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