Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass.

Molecular Human Reproduction
D S JohnsonM J Murray

Abstract

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. Fort...Continue Reading

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Citations

Jun 30, 2012·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·D IoannouD K Griffin
Mar 15, 2012·Journal of Assisted Reproduction and Genetics·Nathan R Treff, Richard T Scott
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Sep 24, 2014·Systems Biology in Reproductive Medicine·Claire Ann JonesRebecca Arthur
Oct 3, 2013·Fertility and Sterility·Ndeye-Aicha GueyeNathan R Treff
May 29, 2016·Clinics in Laboratory Medicine·Anthony N Imudia, Shayne Plosker
Mar 18, 2016·Journal of Assisted Reproduction and Genetics·Ashley W TiegsJames A Grifo
Jan 9, 2015·Human Reproduction Update·David K GardnerNathan R Treff
Mar 23, 2013·Reproductive Biomedicine Online·Alison CampbellCristina Fontes Lindemann Hickman
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Oct 16, 2016·Human Reproduction·Antonio CapalboNathan Treff
Apr 26, 2014·Genetics and Molecular Biology·Roberto Coco
Nov 26, 2015·Clinical Medicine Insights. Reproductive Health·Javier García-FerreyraJulio Dueñas-Chacón
Oct 14, 2017·F1000Research·Robert CasperChaula Mehta
Jan 18, 2019·Clinical Genetics·Alessandra AlteriPaola Viganò
Sep 8, 2019·Molecular Genetics & Genomic Medicine·Vincent GatinoisJacques Puechberty

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Datasets Mentioned

BETA
GSE22864

Methods Mentioned

BETA
biopsy
biopsies
genotyping

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