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Potential of molecular karyotyping using NGS
https://doi.org/10.25557/2073-7998.2025.11.50-51
Abstract
The early genetic diagnosis of newborns with congenital pathology is an important issue. The purpose of this work was to evaluate the possibility of detecting copy number variations (CNVs) using high-throughput/whole exome sequencing (NGS/WES). The study included 802 newborns with phenotypic features, 32 (4%) of them were suspected to have CNVs and 10 (1,2%) of them were suspected to have aneuploidies by WES. Validation of the CNVs was performed using molecular karyotyping (CMA). Aneuploidies were verified by Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR). The results of the work showed a high reliability to detect the CNVs using WES.
Keywords
high-throughput sequencing,
NGS,
whole exome sequencing,
WES,
molecular karyotyping,
CMA,
copy number variation,
CNV
Supporting agencies: The study was carried out without sponsorship
About the Authors
I. Yu. Barkov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
J. Shubina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
I. O. Sadelov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
E. R. Tolmacheva
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
A. A. Voskoboinikov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
A. S. Bolshakova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
D. N. Maslennikov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
I. S. Mukosey
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
T. O. Kochetkova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
A. Yu. Goltsov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
M. V. Kuznetsova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
G. V. Mikhaylovskaya
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
K. A. Svirepova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
A. A. Dokshukina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
D. Yu. Trofimov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
References
1. Shubina J., Tolmacheva E., Maslennikov D., et al. WES-based screening of 7,000 newborns: A pilot study in Russia. HGG Adv. 2024, 10;5(4):100334.
2. Kucharík M., Budiš J., Hýblová M., et al. Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH. Diagnostics (Basel). 2021, 15;11(4):708.
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Review
For citations:
Barkov I.Yu., Shubina J., Sadelov I.O., Tolmacheva E.R., Voskoboinikov A.A., Bolshakova A.S., Maslennikov D.N., Mukosey I.S., Kochetkova T.O., Goltsov A.Yu., Kuznetsova M.V., Mikhaylovskaya G.V., Svirepova K.A., Dokshukina A.A., Trofimov D.Yu. Potential of molecular karyotyping using NGS. Medical Genetics. 2025;24(11):50-51. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.50-51
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