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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
Del Llano, Edgar; Perrin, Aurore; Morel, Frédéric; Devillard, Françoise; Harbuz, Radu; Satre, Véronique; Amblard, Florence; Bidart, Marie; Hennebicq, Sylviane; Brouillet, Sophie; Ray, Pierre F; Coutton, Charles; Martinez, Guillaume.
Afiliação
  • Del Llano E; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, 38000 Grenoble, France.
  • Perrin A; Department of Medical Genetics and Reproductive Biology, Brest University Regional Hospital, 29200 Brest, France.
  • Morel F; Inserm, Université de Bretagne Occidentale, EFS, UMR 1078, GGB, 29200 Brest, France.
  • Devillard F; Department of Medical Genetics and Reproductive Biology, Brest University Regional Hospital, 29200 Brest, France.
  • Harbuz R; Inserm, Université de Bretagne Occidentale, EFS, UMR 1078, GGB, 29200 Brest, France.
  • Satre V; UM de Génétique Chromosomique, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France.
  • Amblard F; UM de Génétique Chromosomique, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France.
  • Bidart M; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, 38000 Grenoble, France.
  • Hennebicq S; UM de Génétique Chromosomique, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France.
  • Brouillet S; UM de Génétique Chromosomique, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France.
  • Ray PF; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, 38000 Grenoble, France.
  • Coutton C; Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, 38000 Grenoble, France.
  • Martinez G; Centre Clinique et Biologique d'Assistance Médicale à la Procréation, Hôpital Couple-Enfant, Centre Hospitalier Universitaire de Grenoble, 38000 Grenoble, France.
Int J Mol Sci ; 24(4)2023 Feb 11.
Article em En | MEDLINE | ID: mdl-36835074
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sêmen / Análise do Sêmen Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sêmen / Análise do Sêmen Limite: Female / Humans / Male / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article