Preimplantation genetic testing for aneuploidy (PGT‐A) reduces miscarriage risk, increases the success of IVF, shortens time to pregnancy, and reduces multiple gestation rates without compromising outcomes. The progression of PGT‐A has included common application of next‐generation sequencing (NGS) from single nucleotide polymorphism microarray, quantitative real‐time PCR, and array comparative hybridization platforms of analysis. Additional putative advances in PGT‐A capability include classifying embryos as mosaic and predicting the presence of segmental imbalance. A critical component in the process of technical validation of these advancements involves evaluation of concordance between reanalysis results and initial testing results. While many independent studies have investigated the concordance of results obtained from the remaining embryo with the original PGT‐A diagnosis, compilation and systematic analysis of published data has not been performed. Here, we review results from 26 primary research articles describing concordance in 1271 human blastocysts from 2260 pairwise comparisons. Results illustrate significantly higher discordance from PGT‐A methods which utilize NGS and include prediction of mosaicism or segmental imbalance. These results suggest caution when considering new iterations PGT‐A.

中文翻译：

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非整倍体的植入前基因检测：对已发表的囊胚再分析一致性数据的回顾

非整倍体植入前基因检测 (PGT-A) 可降低流产风险、提高试管婴儿的成功率、缩短妊娠时间并降低多胎妊娠率而不影响结果。PGT-A 的进展包括从单核苷酸多态性微阵列、定量实时 PCR 和阵列比较杂交分析平台的下一代测序 (NGS) 的普遍应用。PGT-A 能力的其他推定进展包括将胚胎分类为镶嵌和预测节段不平衡的存在。这些进步的技术验证过程中的一个关键组成部分涉及评估再分析结果与初始测试结果之间的一致性。虽然许多独立研究调查了从剩余胚胎获得的结果与原始 PGT-A 诊断的一致性，但尚未对已发表的数据进行汇编和系统分析。在这里，我们回顾了 26 篇主要研究文章的结果，这些文章描述了来自 2260 次成对比较的 1271 个人类囊胚的一致性。结果表明，与利用 NGS 并包括预测嵌合或节段不平衡的 PGT-A 方法的不一致程度明显更高。这些结果表明在考虑新的迭代 PGT-A 时要谨慎。结果表明，与利用 NGS 并包括预测嵌合或节段不平衡的 PGT-A 方法的不一致程度明显更高。这些结果表明在考虑新的迭代 PGT-A 时要谨慎。结果表明，与利用 NGS 并包括预测嵌合或节段不平衡的 PGT-A 方法的不一致程度明显更高。这些结果表明在考虑新的迭代 PGT-A 时要谨慎。