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

作     者：Shuo Zhang Cai-Xia Lei Xiao-Xi Sun Cong-Jian Xu Zhang Shuo;Lei Cai-Xia;Sun Xiao-Xi;Xu Cong-Jian

作者机构：Department of GeneticsShanghai Ji Ai Genetics and IVF InstituteObstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related DiseasesObstetrics and Gynecology HospitalFudan UniversityShanghai 200011China 

出 版 物：《Reproductive and Developmental Medicine》 (生殖与发育医学（英文版）)

年 卷 期：2020年第4卷第1期

页      面：1-6页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 07[理学] 071008[理学-发育生物学] 

基　　金：supported by the Science and Technology Innovation Action Plan Program of Shanghai(18411953800) Shanghai Municipal Health Commission(20194Y0002). 

主　　题：Chromosome Aneuploidy Inversion Karyotype Preimplantation Genetic Testing Structural Chromosomal Rearrangement Structural Rearrangement Translocation Karyotype 

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.