Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model.
Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model.
复制标题
下一代测序技术的交叉验证，用于诊断染色体镶嵌和分段性非整倍性植入前植入胚胎模型。
DOI：
10.3390/life11040340
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发表时间：
2021-04-12
期刊：
影响因子：
--
通讯作者：
Greco E
中科院分区：
文献类型：
--
作者：
Biricik A;Cotroneo E;Minasi MG;Greco PF;Bono S;Surdo M;Lecciso F;Sessa M;Fiorentino F;Spinella F;Greco E
嵌合胚胎的检测对于为接受体外受精 (IVF) 治疗的女性提供更多成功的可能性至关重要。基于下一代测序 (NGS) 的植入前基因检测越来越多地用于此目的，因为它们具有更高的检测人类胚胎中染色体嵌合现象的能力。近年来，发布了新的 NGS 系统，但它们在染色体嵌合体方面的性能各不相同。我们对两个不同的 NGS 平台进行了交叉验证分析，以评估这些技术的可行性，并为检测此类非整倍体提供标准参数。该研究评估了 MiseqTM Veriseq（Illumina，圣地亚哥，加利福尼亚州，美国）和 Ion Torrent 个人基因组机 PGMTM ReproSeq（Thermo Fisher，沃尔瑟姆，马萨诸塞州，美国）检测整体和片段嵌合非整倍体的性能。使用两个平台分析具有已知嵌合百分比的重建样本，并确定敏感性和特异性。两个平台都具有高水平的特异性和敏感性，检测限 (LOD) ≥30% 的嵌合体，并且对于节段异常显示出 ≥5.0 Mb 的分辨率。我们的研究结果表明，NGS 方法能够准确检测染色体嵌合和节段非整倍体。当应用于临床环境中检测染色体嵌合时，每个 NGS 平台的 LOD 知识有可能减少假阴性和假阳性诊断。
Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since their higher capability to detect chromosomal mosaicism in human embryos. In the recent years, new NGS systems were released, however their performance for chromosomal mosaicism are variable. We performed a cross-validation analysis of two different NGS platforms in order to assess the feasibility of these techniques and provide standard parameters for the detection of such aneuploidies. The study evaluated the performance of MiseqTM Veriseq (Illumina, San Diego, CA, USA) and Ion Torrent Personal Genome Machine PGMTM ReproSeq (Thermo Fisher, Waltham, MA, USA) for the detection of whole and segmental mosaic aneuploidies. Reconstructed samples with known percentage of mosaicism were analyzed with both platforms and sensitivity and specificity were determined. Both platforms had high level of specificity and sensitivity with a Limit Of Detection (LOD) at ≥30% of mosaicism and a showed a ≥5.0 Mb resolution for segmental abnormalities. Our findings demonstrated that NGS methodologies are capable of accurately detecting chromosomal mosaicism and segmental aneuploidies. The knowledge of LOD for each NGS platform has the potential to reduce false-negative and false-positive diagnoses when applied to detect chromosomal mosaicism in a clinical setting.
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影响因子：
6.7
作者：
Mamas, Thalia;Gordon, Anthony;SenGupta, Sioban
通讯作者：
SenGupta, Sioban
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Munne, Santiago;Spinella, Francesca;Fiorentino, Francesco
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Fiorentino, Francesco
影响因子：
6.1
作者：
Mastenbroek, Sebastiaan;Repping, Sjoerd
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Repping, Sjoerd
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作者：
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通讯作者：
Navarro, Joaquima
影响因子：
8.3
作者：
Coonen, Edith;Rubio, Carmen;De Rycke, Martine
通讯作者：
De Rycke, Martine