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Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To assess the variability of meiotic segregation patterns in sperm of Robertsonian translocation (RobT) carrier t(21;22) and present effect on reproductive outcome.

Methods

Infertile couple enrolled in IVF/ICSI program. Sperm chromosomal segregation analysis was done using FISH; preimplantation genetic testing for aneuploids (PGT-A) was performed by NGS.

Results

Patients had a low fertilization rate and a negative outcome after the first IVF/ICSI cycle, so they were advised to do chromosomal aberration analysis before their next attempt. The second IVF/ICSI procedure resulted in pregnancy, and two blastocysts were cryopreserved. The NIFTY test has shown low risk for all tested trisomies, sex chromosomes aneuploidis, and deletion syndromes, so a healthy female child was born. During pregnancy, karyotypisation results revealed that the male partner is a RobT carrier t(21;22). Sperm segregation analysis of chromosomes 21 and 22 has shown six types of sperm chromosome sets. The majority of sperm cells had a normal/balanced RobT form of a haploid set of chromosomes (68.5–76%) called an “alternate.” Sperm cells that had additional chromosome 21 or 22, or lack of chromosome 21 or 22, were present in 4–12%. PGT-A performed on two cryopreserved blastocysts revealed one embryo euploid and the other with the mosaic aneuploidy of chromosome 7 present in 50% of the cells.

Conclusion

Infertile couples with a RobT male carrier who have semen comprising of normal/alternate form in the majority have a good prognosis of IVF/ICSI outcome. PGT is recommended because of the possible occurrence of viable trisomic embryos and potential interchromosomal effect.

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Authors and Affiliations

  1. BetaPlus Center for Reproductive Medicine, Avenija Veceslava Holjevca 23, 10 000, Zagreb, Croatia

    Sanja Vujisic, Nebojsa Vujnovic & Romana Dmitrovic

  2. Division of Molecular Biology, Department of Biology, Faculty of Science, University of Zagreb, Horvatovac 102a, 10000, Zagreb, Croatia

    Petra Korac & Mirjana Pavlica

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  1. Sanja Vujisic
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  2. Petra Korac
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  3. Mirjana Pavlica
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  4. Nebojsa Vujnovic
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  5. Romana Dmitrovic
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Correspondence to Sanja Vujisic.

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Vujisic, S., Korac, P., Pavlica, M. et al. Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome. J Assist Reprod Genet 37, 231–238 (2020). https://doi.org/10.1007/s10815-019-01648-x

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  • DOI: https://doi.org/10.1007/s10815-019-01648-x

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