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MOLECULAR KARYOTYPING (ACGH) AS MODERN APPROACH FOR INVESTIGATIONS OF MISCARRIAGE CAUSES

https://doi.org/10.1234/XXXX-XXXX-2013-1-26-35

Abstract

15—20% of recognized pregnancies are lost as spontaneous abortions during first trimester, and about half of them are caused by fetal chromosome abnormalities. Identification of these abnormalities helps to estimate recurrence risks in future pregnancies. However, due to cell culture failures, maternal cell contamination and submicroscopic rearrangements often no fetal karyotype can be obtained. Array-based comparative genomic hybridization (aCGH) can overcome some of these limitations and ascertain fetal karyotype with high resolution. In addition, this approach permits to investigate copy number variations (CNV) with purpose to search for variants associated with reproductive wastage. This approach permits also ascertainment of genes crucial for embryonic development.

 

 

About the Authors

T. V. Nikitina
Scientific Research Institute of medical genetics
Russian Federation


Tomsk, Ushaika street, 10



А. А. Kashevarova
Scientific Research Institute of medical genetics
Russian Federation
Tomsk, Ushaika street, 10


N. А. Skryabin
Scientific Research Institute of medical genetics
Russian Federation
Tomsk, Ushaika street, 10


N. N. Chechetkina
Scientific Research Institute of medical genetics
Russian Federation
Tomsk, Ushaika street, 10


А. А. Melnikov
Scientific Research Institute of oncology
Russian Federation
Tomsk, Kooperativniy street, 5


I. N. Lebedev
Scientific Research Institute of medical genetics
Russian Federation
Tomsk, Ushaika street, 10


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For citations:


Nikitina T.V., Kashevarova А.А., Skryabin N.А., Chechetkina N.N., Melnikov А.А., Lebedev I.N. MOLECULAR KARYOTYPING (ACGH) AS MODERN APPROACH FOR INVESTIGATIONS OF MISCARRIAGE CAUSES. Medical Genetics. 2013;12(1):26-35. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2013-1-26-35

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