Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8200 karyotypes - INRAE - Institut national de recherche pour l’agriculture, l’alimentation et l’environnement
Article Dans Une Revue Fertility and Sterility Année : 2024

Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8200 karyotypes

1 CECOS - Centre d’Études et de Conservation des Œufs et du Sperme [CHU Jean Verdier]
2 U933 - Maladies génétiques d'expression pédiatrique
3 Laboratoire de Biologie de la reproduction CECOS - [CHU de Dijon]
4 BREED - Biologie de la Reproduction, Environnement, Epigénétique & Développement
5 Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy]
6 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
7 IMoST - Imagerie Moléculaire et Stratégies Théranostiques
8 CECOS Picardie, Amiens
9 PERITOX - Périnatalité et Risques Toxiques - UMR INERIS_I 1 UPJV
10 CHU Caen
11 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
12 Hôpital Cochin [AP-HP]
13 Inserm U1312 - BRIC - BoRdeaux Institute in onCology
14 AP-HP - Hôpital Antoine Béclère [Clamart]
15 CHU Nice - Centre Hospitalier Universitaire de Nice
16 AMP CECOS - Centre d'Assistance Médicale à la Procréation [CHU Clermont-Ferrand]
17 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
18 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
19 CECOS Pays de la Loire Nantes Service de Biologie de la reproduction, Nantes
20 CHU La Réunion - Centre Hospitalier Universitaire de La Réunion
21 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
22 NorDic - Neuroendocrine, Endocrine and Germinal Differentiation Communication
23 CHU Tenon [AP-HP]
24 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
25 Clinique de Génétique médicale Guy Fontaine [CHRU LIlle]
26 NeuroDiderot (UMR_S_1141 / U1141) - Maladies neurodéveloppementales et neurovasculaires
27 IC UM3 (UMR 8104 / U1016) - Institut Cochin
Marie-Ange Clarotti
  • Fonction : Auteur
Béatrice Delepine
  • Fonction : Auteur

Résumé

Objective: To study karyotypes of more than 8,200 oocyte donor candidates in nulliparous or multiparous women compared to a reference population. Design: A retrospective observational multicentric study. Subjects: The study included two cohorts of oocyte donor candidates recruited between January 2005 and October 2021: multiparous women with at least one child at the time of recruitment, and nulliparous women. Both were compared to a reference population composed of female newborns from literature. Exposure: Not applicable. Main outcome measures: Blood lymphocyte karyotype. Results: A total of 8229 oocyte donor candidates from 22 fertility centers were included in this study. Nulliparous women (n=1890) and multiparous ones (n=6339) were compared to 8102 female newborns. Overall, 65 candidates were carriers of chromosomal abnormalities and were therefore excluded from the donation process (0.79%, 95% CI: 0.60-0.98). The occurrence of balanced structural chromosomal rearrangements was globally increased in the study population (0.49%, 95% CI: 0.34-0.64) compared to female newborns (0.24%, 95% CI: 0.34-0.64, p=0.0086). The number of reciprocal translocations was increased 5-fold in nulliparous oocyte donor candidates (0.37%, 95% CI: 0.10-0.64, p=0.013). The incidence of sex chromosome mosaicism was notably increased in multiparous oocyte donor candidates, with 17 cases (0.27%, 95% CI: 0.14-0.40, p=0.0052). Among chromosomal aberration carriers only two nulliparous women (one reciprocal translocation and one sex chromosome mosaicism) had fertility issues with a diagnosis of premature ovarian failure. Conclusion: In this comprehensive 16-years French experience of karyotyping in oocyte donor candidates, we confirmed an increased incidence of balanced structural chromosomal rearrangements, especially among those without children at the time of recruitment. Karyotyping could be considered to identify any chromosomal abnormalities that may not be easily detectable through medical questioning. These abnormalities pose an inherent genetic risk for gamete recipients if left undetected.
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Dates et versions

hal-04765904 , version 1 (04-11-2024)

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Vincent Puy, Badria Bennani Smires, Jean-Pierre Siffroi, Julie Barberet, Marion Bendayan, et al.. Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8200 karyotypes. Fertility and Sterility, 2024, ⟨10.1016/j.fertnstert.2024.10.037⟩. ⟨hal-04765904⟩
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