Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production

Munné, Santiago; Velilla, Esther; Colls, P.; Bermudez, M; Vemuri, Mohan C.; Steuerwald, Nury; Garrisi, John; Cohen, Jacques

doi:10.1016/j.fertnstert.2005.06.025

Cited by 150 publications

(107 citation statements)

References 25 publications

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“…Moreover, six embryos contained almost identical chromosomes at cleavage and blastocyst stage and these embryos had less distinct chromosomal abnormalities in trophectoderm cells than in the blastomere. Self-correction during embryonic development has been confirmed by other investigators [17][18][19].…”

Section: Discussionsupporting

confidence: 60%

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Huang

Zhao

Wang

et al. 2015

J Assist Reprod Genet

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Purpose To investigate chromosomal characteristics in the same embryos at cleavage and blastocyst stage. Methods Six PGD/PGS cycles were retrospective studied, including five chromosomal translocation PGD cycles and one recurrent abortion PGS cycle. The cleavage embryos were biopsied one blastomere at day 3, followed by blastocyst culture. Trophectoderm cell biopsy was performed when embryos developed into the blastocyst stage. Whole genome amplification and 24-chromosomal analysis by CGH/SNP microarray was performed on each blastomere and trophectoderm cells. Results After PGD/PGS, only one couple had no euploid embryos to transfer. Five couples delivered a healthy, balancedkaryotype baby. A total of 18 embryos had both blastomere and trophectoderm cell reliable results available. Of the 18 embryos, eleven embryos contained identical chromosomes from cleavage stage to blastocyst stage and six embryos contained almost identical chromosomes . Only one embryo presented opposite chromosomal results for the cleavage and blastocyst stage, with abnormal chromosomes in the blastomere but normal chromosomes in trophectoderm cells. Conclusions Most embryos maintain chromosomal stability during embryonic development. Compared to cleavage stage, blastocyst stage may provide more reliable aneuploidy results.

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Section: Discussionsupporting

confidence: 60%

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Huang

Zhao

Wang

et al. 2015

J Assist Reprod Genet

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“…Previous studies have shown that aneuploidy screening of cleavage-stage embryos by FISH yields results that are poorly consistent with those obtained by comprehensive chromosomal screening (CCS) of corresponding blastocysts . These discrepancies may be due to mosaicism, FISH artifacts or self-correction of chromosomal segregation errors (Munne et al 2005b, Barbash-Hazan et al 2009). Therefore, PGD based on cleavage-stage FISH for CR carriers may not accurately detect the imbalance of CR-associated chromosomes and effectively reflect the chromosomal composition in the corresponding blastocysts.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Gui

Yao

et al. 2016

Reproduction

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Balanced chromosomal rearrangements (CRs) are among the most common genetic abnormalities in humans. In the present study, we have investigated the degree of consistency between the chromosomal composition of the blastocyst inner cell mass (ICM) and trophectoderm (TE) in carriers with balanced CR, which has not been previously addressed. As a secondary aim, we have also evaluated the validity of cleavage-stage preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) of blastocysts from CR carriers. Blastocyst ICM and TE were screened for chromosomal aneuploidy and imbalance of CR-associated chromosomes based on whole-genome copy number variation analysis by low-coverage next-generation sequencing (NGS) following single-cell wholegenome amplification by multiple annealing and looping-based amplification cycling. The NGS results were analyzed without knowledge of cleavage-stage FISH results. NGS results for blastocyst ICM and TE from CR carriers were 86.49% (32/37) consistent. Of the 1702 (37!46) chromosomes examined, 99.47% (1693/1702) showed consistency. However, only 40.0% (18/45) of all embryos had consistent results for chromosomes involved in CR, as determined by blastocyst NGS and cleavage-stage FISH. Of the 85 CR-affected chromosomes analyzed by FISH, 37.65% (32/85) were incongruous with NGS results, with 87.5% (28/32) showing imbalanced composition by FISH but balanced composition by NGS. These results indicate that chromosomal composition of blastocyst ICM and TE in balanced CR carriers is highly consistent, and that PGD based on cleavage-stage FISH is inaccurate; therefore, using blastocyst TE biopsies for NGS-based PGD is recommended for identifying chromosomal imbalance in embryos from balanced CR carriers.

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“…In the past, high levels of mosaicism have been reported in cleavage stage embryos [37] and for this reason the analysis of two blastomeres or even more cells with the blastocyst stage biopsy (see the following paragraph) have been introduced. Anyway, data in the literature have shown that embryos with low-moderate chromosome mosaicism on day-3 often self-correct during their development to the blastocyst stage [38][39][40].…”

Section: Open Accessmentioning

confidence: 99%

“…However the following consideration in support of blastocyst culture and biopsy should be taken into account: 1) a low number of embryos to process is more time and cost effective, and 2) most of the embryos that do not reach the blastocyst stage are chromosomally abnormal [52,53]. Blastocyst biopsy seems to be a better strategy as compared to cleavage stage biopsy also because different authors have reported that embryos diagnosed as aneuploid on day-3, later on day-5 have resulted in euploid blastocyst [38][39][40], suggesting the existence of self-correction mechanisms during the transition to blastocyst.…”

Section: Blastocyst Biopsymentioning

confidence: 99%

Preimplantation genetic diagnosis and the biopsy technique: Important considerations

Greco¹,

Fabozzi²,

Ruberti³

et al. 2013

ARSci

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Preimplantation genetic diagnosis allows to test the genetic status of embryos prior to implantation. In order to obtain genetic material, on which carry out a genetic diagnosis, a procedure named embryo biopsy is required. In the last two decades, embryo biopsy at the cleavage stage has been the mostly performed procedure. However, recently, alternative methods allowing the retrieval of a larger number of cells (blastocyst stage biopsy), or representing a valid alternative to overcome ethical issues (polar body biopsy) have obtained increasing consensus. This article reviews different methods of embryo biopsy and points out their positive and negative aspects.

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Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production

Cited by 150 publications

References 25 publications

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Preimplantation genetic diagnosis and the biopsy technique: Important considerations

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