Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.
Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.
复制标题
非整倍性的植入前基因检测：对已发表的胚泡再分析一致性数据的综述。
DOI：
10.1002/pd.5828
复制
发表时间：
2021-04
影响因子：
3
通讯作者：
Treff NR
中科院分区：
文献类型：
--
作者：
Marin D;Xu J;Treff NR
非整倍体植入前基因检测（PGT‐A）可降低流产风险，提高体外受精成功率，缩短妊娠时间，降低多胎妊娠率，同时不影响结局。PGT - A的发展包括了单核苷酸多态性微阵列、实时定量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能力的其他假定进展包括将胚胎分类为镶嵌胚胎和预测片段不平衡的存在。在这些进步的技术验证过程中，一个关键的组成部分涉及评估再分析结果和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，我们回顾了来自2260个成对比较的1271个人类囊胚的26篇主要研究文章的结果。结果表明，使用NGS的PGT - A方法，包括对镶嵌现象或片段不平衡的预测，具有显著更高的不一致性。这些结果提示在考虑新的迭代PGT‐A时要谨慎。
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.
登录
查看更多内容
影响因子：
16.6
作者：
Bolton H;Graham SJL;Van der Aa N;Kumar P;Theunis K;Fernandez Gallardo E;Voet T;Zernicka-Goetz M
通讯作者：
Zernicka-Goetz M
影响因子：
3.7
作者：
Kuznyetsov V;Madjunkova S;Antes R;Abramov R;Motamedi G;Ibarrientos Z;Librach C
通讯作者：
Librach C
影响因子：
1.9
作者：
Munne, Santiago;Spinella, Francesca;Fiorentino, Francesco
通讯作者：
Fiorentino, Francesco
影响因子：
6.7
作者：
Jalas, Chaim;Seli, Emre;Scott, Richard T., Jr.
通讯作者：
Scott, Richard T., Jr.
影响因子：
3.9
作者：
Lin, Pin-Yao;Lee, Chun-, I;Lee, Maw-Sheng
通讯作者：
Lee, Maw-Sheng