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Published in: Journal of Assisted Reproduction and Genetics 11/2016

01-11-2016 | Genetics

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

Authors: Drew V. Tortoriello, Molina Dayal, Zeki Beyhan, Tahsin Yakut, Levent Keskintepe

Published in: Journal of Assisted Reproduction and Genetics | Issue 11/2016

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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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Metadata
Title
Reanalysis of human blastocysts with different molecular genetic screening platforms reveals significant discordance in ploidy status
Authors
Drew V. Tortoriello
Molina Dayal
Zeki Beyhan
Tahsin Yakut
Levent Keskintepe
Publication date
01-11-2016
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 11/2016
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-016-0766-5

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