A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism
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- 作者：David Goodrich ; Xin Tao ; Chelsea Bohrer…
- 关键词：Comprehensive chromosome screening ; Whole genome amplification ; Next ; generation sequencing ; Quantiative real time PCR ; Mosaicism
- 刊名：Journal of Assisted Reproduction and Genetics
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：33
- 期：11
- 页码：1473-1480
- 全文大小：4071KB
- 刊物类别：Medicine
- 刊物主题：Gynecology; Reproductive Medicine; Human Genetics;
- 出版者：Springer US
- ISSN：1573-7330
- 卷排序：33
文摘
PurposeA subset of preimplantation stage embryos may possess mosaicism of chromosomal constitution, representing a possible limitation to the clinical predictive value of comprehensive chromosome screening (CCS) from a single biopsy. However, contemporary methods of CCS may be capable of predicting mosaicism in the blastocyst by detecting intermediate levels of aneuploidy within a trophectoderm biopsy. This study evaluates the sensitivity and specificity of aneuploidy detection by two CCS platforms using a cell line mixture model of a mosaic trophectoderm biopsy.