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Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass
Aneuploidy has been well-documented in blastocyst embryos, but prior studies have been limited in scale and/or lack mechanistic data. We previously reported preclinical validation of microarray 24-chromosome preimplantation genetic screening in a 24-h protocol. The method diagnoses chromosome copy n...
Autores principales: | , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Oxford University Press
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989828/ https://www.ncbi.nlm.nih.gov/pubmed/20643877 http://dx.doi.org/10.1093/molehr/gaq062 |
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author | Johnson, D.S. Cinnioglu, C. Ross, R. Filby, A. Gemelos, G. Hill, M. Ryan, A. Smotrich, D. Rabinowitz, M. Murray, M.J. |
author_facet | Johnson, D.S. Cinnioglu, C. Ross, R. Filby, A. Gemelos, G. Hill, M. Ryan, A. Smotrich, D. Rabinowitz, M. Murray, M.J. |
author_sort | Johnson, D.S. |
collection | PubMed |
description | Aneuploidy has been well-documented in blastocyst embryos, but prior studies have been limited in scale and/or lack mechanistic data. We previously reported preclinical validation of microarray 24-chromosome preimplantation genetic screening in a 24-h protocol. The method diagnoses chromosome copy number, structural chromosome aberrations, parental source of aneuploidy and distinguishes certain meiotic from mitotic errors. In this study, our objective was to examine aneuploidy in human blastocysts and determine correspondence of karyotypes between trophectoderm (TE) and inner cell mass (ICM). We disaggregated 51 blastocysts from 17 couples into ICM and one or two TE fractions. The average maternal age was 31. Next, we ran 24-chromosome microarray molecular karyotyping on all of the samples, and then performed a retrospective analysis of the data. The average per-chromosome confidence was 99.95%. Approximately 80% of blastocysts were euploid. The majority of aneuploid embryos were simple aneuploid, i.e. one or two whole-chromosome imbalances. Structural chromosome aberrations, which are common in cleavage stage embryos, occurred in only three blastocysts (5.8%). All TE biopsies derived from the same embryos were concordant. Forty-nine of 51 (96.1%) ICM samples were concordant with TE biopsies derived from the same embryos. Discordance between TE and ICM occurred only in the two embryos with structural chromosome aberration. We conclude that TE karyotype is an excellent predictor of ICM karyotype. Discordance between TE and ICM occurred only in embryos with structural chromosome aberrations. |
format | Text |
id | pubmed-2989828 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-29898282010-11-23 Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass Johnson, D.S. Cinnioglu, C. Ross, R. Filby, A. Gemelos, G. Hill, M. Ryan, A. Smotrich, D. Rabinowitz, M. Murray, M.J. Mol Hum Reprod Articles Aneuploidy has been well-documented in blastocyst embryos, but prior studies have been limited in scale and/or lack mechanistic data. We previously reported preclinical validation of microarray 24-chromosome preimplantation genetic screening in a 24-h protocol. The method diagnoses chromosome copy number, structural chromosome aberrations, parental source of aneuploidy and distinguishes certain meiotic from mitotic errors. In this study, our objective was to examine aneuploidy in human blastocysts and determine correspondence of karyotypes between trophectoderm (TE) and inner cell mass (ICM). We disaggregated 51 blastocysts from 17 couples into ICM and one or two TE fractions. The average maternal age was 31. Next, we ran 24-chromosome microarray molecular karyotyping on all of the samples, and then performed a retrospective analysis of the data. The average per-chromosome confidence was 99.95%. Approximately 80% of blastocysts were euploid. The majority of aneuploid embryos were simple aneuploid, i.e. one or two whole-chromosome imbalances. Structural chromosome aberrations, which are common in cleavage stage embryos, occurred in only three blastocysts (5.8%). All TE biopsies derived from the same embryos were concordant. Forty-nine of 51 (96.1%) ICM samples were concordant with TE biopsies derived from the same embryos. Discordance between TE and ICM occurred only in the two embryos with structural chromosome aberration. We conclude that TE karyotype is an excellent predictor of ICM karyotype. Discordance between TE and ICM occurred only in embryos with structural chromosome aberrations. Oxford University Press 2010-12 2010-07-19 /pmc/articles/PMC2989828/ /pubmed/20643877 http://dx.doi.org/10.1093/molehr/gaq062 Text en © The Author 2010. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. http://creativecommons.org/licenses/by-nc/2.5/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Articles Johnson, D.S. Cinnioglu, C. Ross, R. Filby, A. Gemelos, G. Hill, M. Ryan, A. Smotrich, D. Rabinowitz, M. Murray, M.J. Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
title | Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
title_full | Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
title_fullStr | Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
title_full_unstemmed | Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
title_short | Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
title_sort | comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989828/ https://www.ncbi.nlm.nih.gov/pubmed/20643877 http://dx.doi.org/10.1093/molehr/gaq062 |
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