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Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

  • Genetics
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Abstract

Purpose

To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes.

Methods and results

The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype.

Conclusions

The discordance in the twins’ karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally.

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Acknowledgements

The work was supported by the Grant Agency of the Ministry of Agriculture of the Czech Republic, project MZE 0002716202.

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Authors and Affiliations

  1. REPROMEDA s.r.o., Brno, Czech Republic

    Gabriela Tauwinklova, Pavel Travnik, Eva Oracova, Katerina Vesela, Lenka Hromadova & Jan Vesely

  2. Department of Medical Genetics, Laboratory of Molecular Cytogenetics, University Hospital, Brno, Czech Republic

    Renata Gaillyova, Jitka Kadlecova, Iva Slamova, Eva Makaturova & Vladimira Vranova

  3. Faculty of Medicine, Masaryk University, Brno, Czech Republic

    Renata Gaillyova & Jitka Kadlecova

  4. Veterinary Research Institute, Brno, Czech Republic

    Eva Oracova, Petra Musilova & Jiri Rubes

  5. Faculty of Science, Institute of Experimental Biology, Masaryk University, Brno, Czech Republic

    Iva Slamova & Vladimira Vranova

  6. GENPROGRESS, Brno, Czech Republic

    Katerina Vesela, Jan Vesely, Petra Musilova & Jiri Rubes

Authors
  1. Gabriela Tauwinklova
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  2. Renata Gaillyova
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Corresponding author

Correspondence to Gabriela Tauwinklova.

Additional information

Capsule We describe the case report of monozygotic monochorial diamniotic twins with discordant karyotypes following preimplantation genetic screening (PGS) and single embryo transfer. A proposition is made for the mechanism possibly involved in this case where an embryo is divided into twins.

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Tauwinklova, G., Gaillyova, R., Travnik, P. et al. Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report. J Assist Reprod Genet 27, 649–655 (2010). https://doi.org/10.1007/s10815-010-9462-z

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  • DOI: https://doi.org/10.1007/s10815-010-9462-z

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