1. [Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing].
- Author
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Aleksandrova NV, Shubina ES, Ekimov AN, Kodyleva TA, Mukosey IS, Makarova NP, Kulakova EV, Levkov LA, Barkov IY, Trofimov DY, and Sukhikh GT
- Subjects
- Female, Humans, Male, Blastocyst, Comparative Genomic Hybridization, High-Throughput Nucleotide Sequencing, Klinefelter Syndrome genetics
- Abstract
Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method. NGS data were collected for 38 biopsied embryos and compared with the data from array comparative genomic hybridization (array-CGH). The concordance between the NGS and array-CGH data was 94.8%. Two samples showed the karyotype 47,XXY by array-CGH and a normal karyotype by NGS. The discrepancies may be explained by loss of efficiency of array-CGH amplicon labeling.
- Published
- 2017
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