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Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts

journal contribution
posted on 06.12.2017, 00:00 by X Yin, K Tan, C Gong, X Li, C Lin, Y Gao, Y Liang, X Yi, F Mu, L Zhao
Preimplantation genetic diagnosis and screening are widely accepted for chromosomal abnormality identification to avoid transferring embryos with genetic defects. Massively parallel sequencing (MPS) is a rapidly developing approach for genome analysis with increasing application in clinical practice. The purpose of this study was to use MPS for identification of aneuploidies and unbalanced chromosomal rearrangements after blastocyst biopsy. Trophectoderm (TE) samples of 38 blastocysts from 16 in vitro fertilization cycles were subjected to analysis. Low-coverage whole genome sequencing was performed using the Illumina HiSeq2000 platform with a novel algorithm purposely created for chromosomal analysis. The efficiency of this MPS approach was estimated by comparing results obtained by an Affymetrix single-nucleotide polymorphism (SNP) array. Whole genome amplification (WGA) products of TE cells were detected by MPS, with an averageof 0.073 depth and 5.5% coverage of the human genome. Twenty-six embryos (68.4%) were detected as euploid, while six embryos (15.8%) contained uniform aneuploidies. Four of these (10.5%) were with solely unbalanced chromosomal rearrangements, whereas the remaining two embryos (5.3%) showed both aneuploidies and unbalanced rearrangements. Almost all these results were confirmed by the SNP array, with the exception of one sample, where different sizes of unbalanced rearrangements were detected, possibly due to chromosomal GC bias in array analysis. Our study demonstrated MPS could be applied to accurately detect embryonic chromosomal abnormality with a flexible and cost-effective strategy and higher potential accuracy.

Funding

Category 1 - Australian Competitive Grants (this includes ARC, NHMRC)

History

Volume

88

Issue

3

Start Page

1

End Page

6

Number of Pages

6

eISSN

1529-7268

ISSN

0006-3363

Location

USA

Publisher

Society for the Study of Reproduction

Language

en-aus

Peer Reviewed

Yes

Open Access

No

External Author Affiliations

BGI-Shenzhen; CITIC Xiangya Reproductive & Genetic Hospital (Changsha); Dong nan da xue; Hua nan li gong da xue; Key Laboratory of Stem Cell and Reproductive Engineering; Københavns universitet; Ministry of Health; National Engineering and Research Center of Human Stem Cell (Changsha); Zhong nan da xue;

Era Eligible

Yes

Journal

Biology of reproduction.