[Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing].
Mol Biol (Mosk)
; 51(2): 308-313, 2017.
Article
em Ru
| MEDLINE
| ID: mdl-28537237
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Blastocisto
/
Hibridização Genômica Comparativa
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Sequenciamento de Nucleotídeos em Larga Escala
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Síndrome de Klinefelter
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Female
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Humans
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Male
Idioma:
Ru
Revista:
Mol Biol (Mosk)
Ano de publicação:
2017
Tipo de documento:
Article