Translator Disclaimer
25 June 2014 Validation of Copy Number Variation Sequencing for Detecting Chromosome Imbalances in Human Preimplantation Embryos
Li Wang, David S. Cram, Jiandong Shen, Xiaohong Wang, Jianguang Zhang, Zhuo Song, Genming Xu, Na Li, Junmei Fan, Shufang Wang, Yaning Luo, Jun Wang, Li Yu, Jiayin Liu, Yuanqing Yao
Author Affiliations +
Abstract

Chromosome aneuploidies commonly arise in embryos produced by assisted reproductive technologies and represent a major cause of implantation failure and miscarriage. Currently, preimplantation genetic diagnosis (PGD) is performed by array-based methods to identify euploid embryos for transfer to the patient. We speculated that a combination of next-generation sequencing technologies and sophisticated bioinformatics would deliver a more comprehensive and accurate methodology to improve the overall efficacy of embryo testing. To meet this challenge, we developed a high-resolution copy number variation (CNV) sequencing pipeline suitable for single-cell analysis. In validation studies, we showed that CNV-Seq was highly sensitive and specific for detection of euploidy, aneuploidy, and segmental imbalances in 24 whole genome amplification samples from PGD embryos that were originally diagnosed by gold standard array comparative genomic hybridization. In addition, CNV-Seq was capable of detecting, mapping, and accurately quantifying terminal chromosome imbalances down to 1 Mb in size originating from abnormal segregation of translocation chromosomes. These validation studies indicate that CNV-Seq displays the hallmarks of an accurate and reliable embryo test with the potential to further improve the overall efficacy of PGD.

Li Wang, David S. Cram, Jiandong Shen, Xiaohong Wang, Jianguang Zhang, Zhuo Song, Genming Xu, Na Li, Junmei Fan, Shufang Wang, Yaning Luo, Jun Wang, Li Yu, Jiayin Liu, and Yuanqing Yao "Validation of Copy Number Variation Sequencing for Detecting Chromosome Imbalances in Human Preimplantation Embryos," Biology of Reproduction 91(2), (25 June 2014). https://doi.org/10.1095/biolreprod.114.120576
Received: 22 April 2014; Accepted: 1 June 2014; Published: 25 June 2014
JOURNAL ARTICLE
PAGES

This article is only available to subscribers.
It is not available for individual sale.
+ SAVE TO MY LIBRARY

SHARE
ARTICLE IMPACT
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top