Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening
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- 作者：Richard T. Scott Jr. ; M.D. ; rscott@rmanj.com
- 关键词：Chromosomal duplications ; chromosomal deletions ; subchromosomal defects ; preimplantation genetic screening ; embryonic mosaicism
- 刊名：Fertility and Sterility
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：107
- 期：1
- 页码：4-5
- 全文大小：84 K
- 卷排序：107
文摘
The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management.