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.