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Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier

  • Genetics
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Abstract

Introduction

Complex chromosomal rearrangements (CCRs) involve two or more chromosomes and at least three breakpoints. Due to their complexity, they are associated with a high number of unbalanced gametes, whose fertilization is often incompatible with viable fetal development. Preimplantation genetic diagnosis (PGD) is usually offered to those patients and typically shows modest results considering the high number of unbalanced embryos. We previously showed that a sperm selection process using the hypo-osmotic swelling test (HOST) allows for an 83% reduction in the proportion of unbalanced spermatozoa (US) in male rearrangements carriers. This is the first report of the use of this procedure in a CCR carrier.

Case description

We report on the case of a 36-year-old male t(4;7;14)(q12;p21;q11.2) carrier who presented to our center for infertility. Sperm fluorescent in situ hybridization showed an 88% proportion of unbalanced spermatozoa. After hypo-osmotic incubation and selection of spermatozoa with a specific flagellar conformation, the proportion of unbalanced spermatozoa dropped to 15%.

Discussion

In the present case, we show that it is possible to select chromosomally balanced prior to in vitro fertilization in male CCR carriers. This technique has the potential of increasing the proportion of euploid embryos and therefore the chances of healthy pregnancy and birth.

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Data availability

The data that support the findings of this study are available on request from the corresponding author, Alexandre ROUEN.

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Authors and Affiliations

  1. Département de Génétique Médicale, Unité INSERM U933, Hôpital Armand-Trousseau, AP-HP, 75012, Paris, France

    Capucine Rossi, Jean-Pierre Siffroi, Eli Rogers & Alexandre Rouen

  2. Laboratoire Drouot, 75009, Paris, France

    Léa Ruosso & Nino Guy Cassuto

  3. Synlab International Services Germany (ISG), Leinfelden, Germany

    Michael Becker

  4. Centre de Procréation Médicalement Assistée, Maternité Des Bluets, 75012, Paris, France

    Laura Prat-Ellenberg

  5. Vigilance Fatigue Sommeil Et Santé Publique, Université de Paris, ERC 7330, Paris, France

    Alexandre Rouen

  6. Centre du Sommeil Et de La Vigilance, AP-HP, Hôtel-DieuCentre de Référence Des Hypersomnies Rares, 75001, Paris, France

    Alexandre Rouen

Authors
  1. Capucine Rossi
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  2. Jean-Pierre Siffroi
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  3. Léa Ruosso
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  4. Eli Rogers
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  5. Michael Becker
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  6. Nino Guy Cassuto
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  7. Laura Prat-Ellenberg
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  8. Alexandre Rouen
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Correspondence to Alexandre Rouen.

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Rossi, C., Siffroi, JP., Ruosso, L. et al. Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier. J Assist Reprod Genet 40, 33–40 (2023). https://doi.org/10.1007/s10815-022-02665-z

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  • DOI: https://doi.org/10.1007/s10815-022-02665-z

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