Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

Author:

Del Llano Edgar1,Perrin Aurore23,Morel Frédéric23,Devillard Françoise4,Harbuz Radu4,Satre Véronique14,Amblard Florence4,Bidart Marie1,Hennebicq Sylviane15,Brouillet Sophie6ORCID,Ray Pierre F.1,Coutton Charles14ORCID,Martinez Guillaume14ORCID

Affiliation:

1. Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, 38000 Grenoble, France

2. Department of Medical Genetics and Reproductive Biology, Brest University Regional Hospital, 29200 Brest, France

3. Inserm, Université de Bretagne Occidentale, EFS, UMR 1078, GGB, 29200 Brest, France

4. UM de Génétique Chromosomique, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France

5. Centre Clinique et Biologique d’Assistance Médicale à la Procréation, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France

6. DEFE, Université de Montpellier, INSERM 1203, Hôpital Arnaud de Villeneuve, CHU de Montpellier, IRMB, 80 Avenue Augustin Fliche, CEDEX 05, 34295 Montpellier, France

Abstract

Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks, RT carriers can benefit from prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD). Sperm fluorescence in situ hybridization (spermFISH) has been used for decades to investigate the sperm meiotic segregation of RT carriers, but a recent report indicates a very low correlation between spermFISH and PGD outcomes, raising the question of the usefulness of spermFISH for these patients. To address this point, we report here the meiotic segregation of 41 RT carriers, the largest cohort reported to date, and conduct a review of the literature to investigate global segregation rates and look for factors that may or may not influence them. We confirm that the involvement of acrocentric chromosomes in the translocation leads to more unbalanced gamete proportions, in contrast to sperm parameters or patient age. In view of the dispersion of balanced sperm rates, we conclude that routine implementation of spermFISH is not beneficial for RT carriers.

Funder

Agence Nationale de la Recherche

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

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