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• W2102092114 abstract "We sought to evaluate the ability of a new next-generation DNA sequencing (NGS) based pre-implantation genetic screening (PGS) approach to determine chromosome copy number from limiting amounts of DNA. PGS, or comprehensive chromosome screening (CCS), is used to assess the chromosome copy number of embryos. Although increasing evidence indicates that euploid embryo transfer increases implantation rates and reduces miscarriage rates, PGS adoption has been limited in part because traditional technologies make the procedure generally unaffordable. However, increased use of trophectoderm biopsy followed by vitrification and subsequent frozen embryo transfer, coupled with streamlined workflows employing NGS, are poised to enable broader PGS use. Here we evaluate the performance of a new NGS-based approach to determine chromosome copy number. We measure the performance of this method on both purified genomic DNA and isolated cells. We developed and implemented an automated PCR-based method that amplifies regions from each chromosome and simultaneously attaches the sequencing adapters and sample-specific barcodes necessary for multiplexed NGS. 12pg DNA purified from cell lines (∼2 diploid cells) or lysate derived from 2-cell isolated cultured lymphocytes served as template for the PCR reactions. The products were sequenced to generate count data for each chromosome, and this data was subsequently used to infer chromosome copy number. A total of 37 true positive aneuploid chromosome calls were made across the DNA from 21 aneuploid cell lines. The method generated 789 correct diploid chromosome calls, 2 incorrect aneuploid (false positive) chromosome calls, and zero incorrect diploid (false negative) chromosome calls. Both incorrect aneuploid calls were in samples containing other aneuploid chromosomes, thus yielding perfect sample-level specificity and perfect chromosome-level sensitivity. Aneuploidies detected included: trisomy 2, 8, 9, 13, 18, 20, 21, 22, 16+21, 2+21, monosomy X, tetrasomy X, XXY, and disomy Y. The technique also detected trisomy 21 and XXY when lysed lymphoblast cells were utilized as template. Our automated, NGS-based method identified a variety of aneuploidies in DNA with high sensitivity and specificity, and detected common aneuploidies in isolated cells. The sample preparation process is designed to be compatible with either Illumina or Life Technologies NGS systems." @default.
• W2102092114 created "2016-06-24" @default.
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• W2102092114 date "2014-09-01" @default.
• W2102092114 modified "2023-09-26" @default.
• W2102092114 title "Adapting next-generation DNA sequencing to detect aneuploidy" @default.
• W2102092114 doi "https://doi.org/10.1016/j.fertnstert.2014.07.612" @default.
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