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Reanalysis of human blastocysts with different molecular genetic screening platforms reveals significant discordance in ploidy status

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Objective

The objective of this study is to determine mosaicism and its effect on blastocysts; abnormal blastocysts determined by molecular testing were sequentially biopsied and retested.

Material and method

We re-biopsied 37 blastocyst-stage abnormal embryos from eight patients, which were reanalyzed to determine the level of concordance between biopsies and inter-laboratory congruence between reputable commercial PGS laboratories.

Results

The main outcome measures were intra-embryo variation between sequential embryo biopsies and inter-laboratory variation between two PGS laboratories. The compatibility between both aCGH and NGS was found to be 11 % (3/27). Importantly, 9/27 (33 %) of embryos originally reported to be aneuploid, upon repeat assessment, were found to be euploid. The concurrence for SNP array and NGS was 50 % (3/6), and 17 % (1/6) of these abnormal embryos tested normal upon re-evaluation with NGS. NGS resulted 41 % (11/27) normal results when 27 of CGH abnormal embryos were retested. Concordance between aCGH and NGS was 4 % (1/27) whereas in three instances, gender discrepancy was observed with NGS when aCGH abnormal embryos were reanalyzed.

Conclusions

The results of these studies reinforce the prevalence of inconsistencies during PGS evaluation of trophectoderm biopsies possibly due to variations in platform sensitivity and heightening concerns over the clinical tractability of such technology in human ARTs..

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Authors and Affiliations

  1. Sher Institute for Reproductive Medicine, Las Vegas, NV, USA

    Drew V. Tortoriello, Molina Dayal, Zeki Beyhan & Levent Keskintepe

  2. Department of Medical Genetics, University of Bursa, Bursa, Turkey

    Tahsin Yakut & Levent Keskintepe

Authors
  1. Drew V. Tortoriello
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  2. Molina Dayal
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  3. Zeki Beyhan
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  4. Tahsin Yakut
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  5. Levent Keskintepe
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Corresponding author

Correspondence to Levent Keskintepe.

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Capsule

Blastocyst mosaicism were evaluated for the consistency of preimplantation genetic screening procedures.

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Tortoriello, D.V., Dayal, M., Beyhan, Z. et al. Reanalysis of human blastocysts with different molecular genetic screening platforms reveals significant discordance in ploidy status. J Assist Reprod Genet 33, 1467–1471 (2016). https://doi.org/10.1007/s10815-016-0766-5

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  • DOI: https://doi.org/10.1007/s10815-016-0766-5

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