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24 January 2013 Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts
XuYang Yin, Ke Tan, Gábor Vajta, Hui Jiang, YueQiu Tan, ChunLei Zhang, Fang Chen, ShengPei Chen, ChunSheng Zhang, XiaoYu Pan, Chun Gong, XuChao Li, ChuYu Lin, Ya Gao, Yu Liang, Xin Yi, Feng Mu, LiJian Zhao, HuanHuan Peng, Bo Xiong, ShuoPing Zhang, DeHua Cheng, GuangXiu Lu, XiuQing Zhang, Ge Lin, Wei Wang
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Abstract

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 average of 0.07× 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.

XuYang Yin, Ke Tan, Gábor Vajta, Hui Jiang, YueQiu Tan, ChunLei Zhang, Fang Chen, ShengPei Chen, ChunSheng Zhang, XiaoYu Pan, Chun Gong, XuChao Li, ChuYu Lin, Ya Gao, Yu Liang, Xin Yi, Feng Mu, LiJian Zhao, HuanHuan Peng, Bo Xiong, ShuoPing Zhang, DeHua Cheng, GuangXiu Lu, XiuQing Zhang, Ge Lin, and Wei Wang "Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts," Biology of Reproduction 88(3), (24 January 2013). https://doi.org/10.1095/biolreprod.112.106211
Received: 11 November 2012; Accepted: 1 January 2013; Published: 24 January 2013
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KEYWORDS
aneuploidy
blastocyst trophectoderm cells
massively parallel sequencing
SNP array
unbalanced chromosomal rearrangement
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