Preimplantation genetic diagnosis/screening by comprehensive molecular testing
Preimplantation genetic diagnosis/screening by comprehensive molecular testing
复制标题
通过综合分子检测进行植入前遗传学诊断/筛查
DOI：
10.1007/s12522-015-0216-6
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发表时间：
2015
期刊：
影响因子：
3.4
通讯作者：
Fujii T
中科院分区：
文献类型：
--
作者：
Kurahashi H;Kato T;Miyazaki J;Nishizawa H;Nishio E;Furukawa H;Miyamura H;Ito M;Endo T;Ouchi Y;Inagaki H;Fujii T
虽然胚胎植入前遗传学诊断（PGD）已成为标准的技术，用于治疗夫妇与平衡的总染色体重排的复发性妊娠丢失，植入率和妊娠率的PGD使用传统的荧光原位杂交（FISH）仍然不理想。全面的分子检测，如阵列比较基因组杂交和下一代测序，可以提高这些比率，但全基因组扩增方法中的扩增偏倚仍然是准确诊断的障碍。最新的扩增程序的进步结合微阵列平台和分析方法的改进克服了扩增偏倚，综合PGD方法的数据准确性已达到临床实验室检测的水平。目前，综合PGD也适用于因反复胎儿非整倍体或不孕症伴反复着床失败而导致的反复妊娠丢失，称为植入前遗传筛查。然而，仍有许多问题需要解决，包括体细胞镶嵌现象导致的误诊、细胞周期相关的背景噪音以及多倍性诊断困难。综合PGD技术也需要进一步改进。
Although embryo screening by preimplantation genetic diagnosis (PGD) has become the standard technique for the treatment of recurrent pregnancy loss in couples with a balanced gross chromosomal rearrangement, the implantation and pregnancy rates of PGD using conventional fluorescence in situ hybridization (FISH) remain suboptimal. Comprehensive molecular testing, such as array comparative genomic hybridization and next-generation sequencing, can improve these rates, but amplification bias in the whole genome amplification method remains an obstacle to accurate diagnosis. Recent advances in amplification procedures combined with improvements in the microarray platform and analytical method have overcome the amplification bias, and the data accuracy of the comprehensive PGD method has reached the level of clinical laboratory testing. Currently, comprehensive PGD is also applied to recurrent pregnancy loss due to recurrent fetal aneuploidy or infertility with recurrent implantation failure, known as preimplantation genetic screening. However, there are still numerous problems to be solved, including misdiagnosis due to somatic mosaicism, cell cycle-related background noise, and difficulty in diagnosis of polyploidy. The technology for comprehensive PGD also requires further improvement.
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影响因子：
6.1
作者：
Jacques Cohen;S. Munné
通讯作者：
S. Munné
影响因子：
9.8
作者：
Bolor, Hasbaira;Mori, Terumi;Kurahashi, Hiroki
通讯作者：
Kurahashi, Hiroki
没有可用的摘要
DOI：
--
发表时间：
2005
期刊：
影响因子：
--
作者：
Medicina Nei Secoli La Redazione
通讯作者：
Medicina Nei Secoli La Redazione
影响因子：
3.7
作者：
Kurahashi H;Kogo H;Tsutsumi M;Inagaki H;Ohye T
通讯作者：
Ohye T
对卵裂期胚胎的一个或两个细胞进行活检后进行胚胎植入，以进行植入前遗传学诊断
影响因子：
3
作者：
H. Van de Velde;A. De Vos;K. Sermon;C. Staessen;M. De Rycke;E. van Assche;W. Lissens;M. Vandervorst;H. Van Ranst;I. Liebaers;A. V. Van Steirteghem
通讯作者：
A. V. Van Steirteghem