Detection of segmental aneuploidy and mosaicism in the human preimplantation embryo: technical considerations and limitations

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• 作者：Nathan R. Treff ; Ph.D. ; T.S. (A.B.B.)^a ; ^b ; ^{ntreff@rmanj.com} ; Jason M. Franasiak ; M.D.^b
• 关键词：Array comparative genomic hybridization ; mosaicism ; next-generation sequencing ; segmental aneuploidy ; single nucleotide polymorphism microarray
• 刊名：Fertility and Sterility
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：107
• 期：1
• 页码：27-31
• 全文大小：617 K
• 卷排序：107

文摘

Whole-chromosome aneuploidy screening has become a common practice to improve outcomes and decrease embryonic transfer order in patients undergoing treatment for infertility through in vitro fertilization. Despite implementation of this powerful technology, a significant percentage of euploid embryos fail to result in successful deliveries. As technology has evolved, detection of subchromosomal imbalances and embryonic mosaicism has become possible, and these serve as potential explanations for euploid embryo transfer failures. Cases involving a parent with a balanced translocation provide a unique opportunity to characterize the capabilities and limitations of detecting segmental imbalances with a variety chromosome screening platforms. Adaptation of these methods to de novo imbalances now represent an ongoing challenge in the field of preimplantation genetic screening as additional factors including mosaicism, clinical predictive value, and distinguishing true imbalances from technical artifacts must be more carefully considered.