摘要
胚胎植入前遗产学筛查通过对胚胎染色体数目异常的筛查来改善体外受精-胚胎移植的妊娠结局,尽管对筛查技术的准确率以及对妊娠结局的影响还存在争议,但其已被广泛地应用于人类辅助生殖技术中。随着细胞遗传学和分子遗传学的不断发展,各种新的遗传分析方法应用于胚胎植入前的遗传学筛查,如微阵列比较基因组杂交、单核苷酸多态微阵列技术、第二代测序技术以及延迟监测技术等。这些新技术的应用在理论上都能提高种植率和妊娠率,但在实际的临床实践中依然存在不同的局限性。本文综述胚胎植入前遗传学筛查中各项技术的应用进展及该领域的发展方向。
Despite an ongoing debate over its efficacy, preimplantation genetic screening （PGS）is increasingly being used to detect numerical chromosomal abnormalities in embryos to improve implantation outcomes after IVF. Recent advancement in both cytogenetics and molecular genetics has created a completely new situation for practical and widespread application of preimplantation genetic screening with a series of novel technologies, such as array-based comparative genomic hybridization （aCGH）, single nucleotide polymorphism（SNP）microarray, Next generation sequencing（NGS）and time-lapse monitoring. Theoretically,the application of these procedures could improve the implantation and pregnancy rate. However,there are some limitations in various methods. Therefore the aim of this review is to summarize the approaches used in PGS and the development direction of PGS.
出处
《生殖医学杂志》
CAS
2015年第8期676-681,共6页
Journal of Reproductive Medicine
关键词
植入前遗传学筛查
非整倍体
活检
微阵列
二代测序
Preimplantation genetic screening
Aneuploidy
Biopsy
Microarray
Nextgeneration sequencing
