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Vol 51(2017) N 2 p. 269-273; DOI 10.1134/S0026893317010022 Full Text

N. V. Aleksandrova1*, E.S. Shubina1, A.N. Ekimov1, T.A. Kodyleva1, I.S. Mukosey1, N.P. Makarova1, E.V. Kulakova1, L.A. Levkov1, I.Yu. Barkov1, D.Yu. Trofimov1, G.T. Sukhikh1

Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing

1Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation, Moscow, 117997 Russia

*alexandrova.ncagip@gmail.com
Received - 2016-03-17; Accepted - 2016-06-01

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.

preimplantation genetic screening, preimplantation genetic diagnosis, aneuploidy, assisted reproductive technologies, IVF, embryo biopsy, array comparative genomic hybridization (aCGH), next-generation sequencing (NGS)



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