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基于证据的胚胎植入前遗传学筛查后马赛克非整倍体胚胎优先排序评分系统。

An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening.

机构信息

R and D, Cytogenetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.

R and D, Cytogenetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.

出版信息

Reprod Biomed Online. 2018 Apr;36(4):442-449. doi: 10.1016/j.rbmo.2018.01.005. Epub 2018 Feb 9.

Abstract

The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic aneuploid embryos for transfer. A retrospective analysis was performed of all sequential cytogenetic and molecular results on chorionic villi samples (n = 72,472) and products of conception (n = 3806) analysed at a single centre. The likelihood that a mosaic aneuploidy detected in chorionic villi samples will involve the fetus, the incidence of clinically significant fetal uniparental disomy in the presence of a mosaic in chorionic villi and the chance of the mosaicism culminating in miscarriage were used to generate a scoring system for prioritizing mosaic aneuploid embryos detected by preimplantation genetic screening. A composite score was obtained for each individual mosaic aneuploidy after assignment of an individual risk score based on the incidence/likelihood of each adverse outcome. A final additional score was assigned to viable full or mosaic aneuploidies with a well-defined phenotype. The higher the composite score the lower the priority for embryo transfer. In conclusion, due to the paucity of prospective studies on the actual transfer of mosaic aneuploid embryos, we suggest using this evidence-based scoring system to provide a useful tool for clinicians, embryologists and patients.

摘要

本研究旨在制定一种基于证据的评分系统,以优先选择进行转移的镶嵌性非整倍体胚胎。对单个中心分析的 72472 个绒毛膜绒毛样本(n=72472)和 3806 个妊娠产物(n=3806)的所有连续细胞遗传学和分子学结果进行回顾性分析。利用绒毛膜绒毛样本中检测到的镶嵌性非整倍体涉及胎儿的可能性、绒毛膜中存在镶嵌性时临床显著的胎儿单亲二体性的发生率以及镶嵌性导致流产的可能性,生成了一个基于胚胎植入前遗传学筛查检测到的镶嵌性非整倍体的胚胎优先排序的评分系统。在根据每种不良结局的发生率/可能性为每个个体镶嵌性非整倍体分配个体风险评分后,为每个个体镶嵌性非整倍体获得一个复合评分。对于具有明确表型的可存活的全或镶嵌性非整倍体,还会分配一个最终的额外评分。复合评分越高,胚胎转移的优先级越低。总之,由于对镶嵌性非整倍体胚胎实际转移的前瞻性研究较少,我们建议使用这种基于证据的评分系统为临床医生、胚胎学家和患者提供有用的工具。

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