Current Status and Recent Advances in Preimplantation Genetic Testing for Structural Rearrangements

• 作者: Lei Cai-Xia Sun Xiao-Xi Xu Cong-Jian Zhang Shuo
• 来源期刊: 生殖与发育医学（英文）
• 关键词: Chromosome Aneuploidy Inversion Karyotype Preimplantation Genetic Testing Structural Chromosomal Rearrangement Structural Rearrangement Translocation Karyotype
• 年，卷（期）: 2020,（1）
• 所属期刊栏目: Expert Reviews
• 页码范围: 1-6
• 页数: 6页
• 语种: 中文
• DOI: 10.4103/2096-2924.281855

摘要

Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis, which can identify the abnormal embryos cultured in vitro, allow only transfer of genetically normal embryos, and improve the pregnancy rate. In recent years, the rapid development of microarrays and next-generation sequencing (NGS) technologies has remarkably accelerated the clinical application of PGT. In particular, a variety of detection methods have emerged and achieved significant progress in PGT for structural rearrangements (PGT-SR). The detection-related abilities of these methods range from the detection of limited chromosome aneuploidy to comprehensive chromosome screening of the whole genome to differentiation of embryos with normal or balanced translocation/inversion karyotypes. In this study, we reviewed PGT-SR-related detection techniques to provide a better reference for clinical application and research. We have also discussed the potential development of novel techniques in the future.