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Preimplantation genetic diagnosis by blastocentesis: Problems and perspectives

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Abstract

The discovery of cell-free DNA in blastocoele fluid opens new perspectives for the development of preimplantation genetic diagnosis of human chromosomal and genetic diseases. In this review we analyzed the results of the first studies, which made it possible to evaluate the effectiveness of the application of a new source of biological material and showed a high degree of agreement between the results of molecular karyotyping with cell-free DNA and blastocyst cells. The results suggest the possibility of developing a noninvasive method of preimplantation genetic diagnosis, which may open a new round of progress in the field of assisted reproductive technologies and the genetics of early stages of human ontogenesis.

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Author information

Authors and Affiliations

  1. Department of Cytology and Genetics, National Research Tomsk State University, Tomsk, 634050, Russia

    D. I. Zhigalina

  2. National Research Tomsk State University, Laboratory of Human Ontogenetics, Tomsk, 634050, Russia

    N. A. Skryabin & I. N. Lebedev

  3. Research Institute of Medical Genetics, Tomsk, 634050, Russia

    N. A. Skryabin & I. N. Lebedev

  4. Krasnoyarsk Center for Reproductive Medicine, Krasnoyarsk, 660037, Russia

    V. G. Artyukhova & A. V. Svetlakov

Authors
  1. D. I. Zhigalina
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  2. N. A. Skryabin
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  3. V. G. Artyukhova
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  4. A. V. Svetlakov
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  5. I. N. Lebedev
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Corresponding authors

Correspondence to D. I. Zhigalina or N. A. Skryabin.

Additional information

Original Russian Text © D.I. Zhigalina, N.A. Skryabin, V.G. Artyukhova, A.V. Svetlakov, I.N. Lebedev, 2016, published in Genetika, 2016, Vol. 52, No. 1, pp. 5–13.

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Zhigalina, D.I., Skryabin, N.A., Artyukhova, V.G. et al. Preimplantation genetic diagnosis by blastocentesis: Problems and perspectives. Russ J Genet 52, 1–7 (2016). https://doi.org/10.1134/S1022795416010154

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  • DOI: https://doi.org/10.1134/S1022795416010154

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