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导致嵌合体发生的体外受精周期特征。

Characteristics of the IVF Cycle that Contribute to the Incidence of Mosaicism.

机构信息

Preimplantation Genetic Testing Department, Igenomix, 46980 Valencia, Spain.

Functional Genomix & Bioinformatics Lab, Igenomix, 46980 Valencia, Spain.

出版信息

Genes (Basel). 2020 Sep 30;11(10):1151. doi: 10.3390/genes11101151.

Abstract

Highly sensitive next-generation sequencing (NGS) platforms applied to preimplantation genetic testing for aneuploidy (PGT-A) allow the classification of mosaicism in trophectoderm biopsies. However, the incidence of mosaicism reported by these tests can be affected by a wide number of analytical, biological, and clinical factors. With the use of a proprietary algorithm for automated diagnosis of aneuploidy and mosaicism, we retrospectively analyzed a large series of 115,368 trophectoderm biopsies from 27,436 PGT-A cycles to determine whether certain biological factors and fertilization (IVF) practices influence the incidence of overall aneuploidy, whole uniform aneuploidy, mosaicism, and TE biopsies with only segmental aneuploidy. Older female and male patients showed higher rates of high-mosaic degree and whole uniform aneuploidies and severe oligozoospermic patients had higher rates of mosaicism and only segmental aneuploidies. Logistic regression analysis identified a positive effect of female age but a negative effect of embryo vitrification on the incidence of overall aneuploid embryos. Female age increased whole uniform aneuploidy rates but decreased only segmental aneuploidy and mosaicism, mainly low-mosaics. Conversely, higher ovarian response decreased whole uniform aneuploidy rates but increased only segmental aneuploidies. Finally, embryo vitrification decreased whole uniform aneuploidy rates but increased mosaicism, mainly low-mosaics, compared to PGT-A cycles with fresh oocytes. These results could be useful for clinician's management of the IVF cycles.

摘要

高灵敏度的新一代测序(NGS)平台应用于胚胎植入前非整倍体检测(PGT-A),可以对滋养外胚层活检中的嵌合体进行分类。然而,这些检测报告的嵌合体发生率可能受到许多分析、生物学和临床因素的影响。我们使用一种专有的自动诊断非整倍体和嵌合体的算法,对 27436 个 PGT-A 周期中的 115368 个滋养外胚层活检进行了回顾性分析,以确定某些生物学因素和受精(IVF)实践是否会影响整体非整倍体、整体均一性非整倍体、嵌合体以及仅存在片段性非整倍体的 TE 活检的发生率。年龄较大的女性和男性患者显示出较高的高度嵌合体程度和整体均一性非整倍体发生率,而严重少精症患者则显示出较高的嵌合体和仅存在片段性非整倍体发生率。逻辑回归分析表明,女性年龄呈正相关,但胚胎玻璃化呈负相关,对整体非整倍体胚胎的发生率有影响。女性年龄增加了整体均一性非整倍体的发生率,但降低了仅存在片段性非整倍体和嵌合体的发生率,主要是低度嵌合体。相反,较高的卵巢反应降低了整体均一性非整倍体的发生率,但增加了仅存在片段性非整倍体的发生率。最后,与新鲜卵母细胞的 PGT-A 周期相比,胚胎玻璃化降低了整体均一性非整倍体的发生率,但增加了嵌合体的发生率,主要是低度嵌合体。这些结果可能对临床医生管理 IVF 周期有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04d4/7600993/d332d1b375d1/genes-11-01151-g001.jpg

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