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New protocol based on massive parallel sequencing for aneuploidy screening of preimplantation human embryos.

Authors :
Vendrell, Xavier
Fernández-Pedrosa, Victoria
Triviño, Juan Carlos
Bautista-Llácer, Rosa
Collado, Carmen
Rodríguez, Oscar
García-Mengual, Elena
Ferrer, Empar
Calatayud, Carmen
Ruiz-Jorro, Miguel
Source :
Systems Biology in Reproductive Medicine. Jun2017, Vol. 63 Issue 3, p162-178. 17p.
Publication Year :
2017

Abstract

Novel next-generation sequencing procedures have rapidly emerged into the preimplantation genetic screening framework. This work presents the design and validation of a new low-coverage whole-genome sequencing assay for aneuploidy detection in single blastomeres and trophectodermal samples from preimplantation embryos. The validation ensures analytical sensitivity, specificity, robustness, precision, limit of detection, resolution, and reproducibility. Specific parameters to measure the performance are defined, and the results are compared with a standardized array-based method to stablish the concordance. From the single cell genomics point of view, the main novelties are the length of reads of the libraries (150 nucleotides) together with a paired-end strategy and the design of an original algorithm and copy number viewer. A total of 129 samples were included in six experimental runs using a MiSeq Illumina platform. Samples included: single amniocytes, single blastomeres (cleavage-stage embryos), trophectoderm samples (blastocyst), and diluted DNA. Sensitivity and specificity were calculated per chromosome yielding 96% and 99%, respectively. The percentage of concordant samples was 98.2% and all of the aneuploid samples were confirmed. In conclusion, the validation yields highly reliable and reproducible results, representing an accurate and cost-effective strategy for the routine detection of aneuploidy in human embryos. [ABSTRACT FROM PUBLISHER]

Details

Language :
English
ISSN :
19396368
Volume :
63
Issue :
3
Database :
Academic Search Index
Journal :
Systems Biology in Reproductive Medicine
Publication Type :
Academic Journal
Accession number :
122570870
Full Text :
https://doi.org/10.1080/19396368.2017.1312633