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Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization

机译:与阵列比较基因组杂交相比在植入前遗传筛选中通过下一代测序鉴定镶嵌和节段非整倍性可改善临床结果

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摘要

BackgroundChromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably lower than the euploid embryos. The superior capability of next-generation sequencing (NGS) to detect chromosomal mosaicism in preimplantation genetic screening (PGS) remains controversial, and several data displayed similar implantation and pregnancy rates using NGS or array comparative genomic hybridization (aCGH).
机译:背景技术染色体镶嵌症是在特定的胚泡中同时存在整倍体和非整倍体细胞。最近的研究报道,镶嵌胚胎移植的植入率明显低于整倍体胚胎。下一代测序(NGS)在植入前基因筛查(PGS)中检测染色体镶嵌的优越能力仍然存在争议,一些数据显示使用NGS或阵列比较基因组杂交(aCGH)的相似植入率和妊娠率。

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