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  • Génétique et Infertilité Masculine
  • Microdélétions du Chromosome Y
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Prescription et pratique de la recherche des microdélétions du chromosome Y en France: résultats de l’enquête nationale réalisée sous l’égide de la Société d’Andrologie de Langue Française

Screening for Y chromosome microdeletions in infertile men in France: a survey of French practice based on 88 IVF centres sponsored by the SALF (Société d’Andrologie de Langue Française)

Resume

La recherche des microdélétions du chromosome Y est conseillée en cas de troubles sévères de la spermatogenèse. Le développement des techniques de biologie moléculaire a rendu ce diagnostic plus accessible en analyse de routine dans le cadre du bilan d’exploration d’une infertilité masculine. Cependant, le diagnostic des microdélétions du chromosome Y n’est pas proposé par tous les centres d’Assistance Médicale à la Procréation (AMP).

Le but de notre enquête était de préciser quelles sont, en France, les conditions de prescription dans tous les centres d’AMP (indications, financement) et de réalisation dans les laboratoires correspondants (techniques employées, facturation), de cette analyse. Nous observons que l’activité de détection des microdélétions est en croissance forte et régulière. L’évolution vers un consensus sur les indications de ce dépistage et vers une technique standardisée, soumise à un contrôle de qualité national, paraît souhaitable. La prise en charge de cette analyse par les organismes d’Assurance Maladie apparaît comme une étape essentielle à sa généralisation en routine. Enfin, l’analyse des réponses à ce questionnaire a révélé une forte demande de diffusion d’information sur ce sujet, de la part des cliniciens et biologistes.

Abstract

Screening for Y chromosome microdeletions is recommended in cases of severe impaired spermatogenesis. Improvement of molecular biology techniques has made this diagnosis more accessible in routine practice when evaluation of male infertility is necessary. However, the diagnosis of Y chromosome microdeletions is not proposed by all IVF centres. The aim of the present study was to specify the prescribing conditions (indication, financing) and practical conduct (methods, billing) for this analysis in France. We observed that microdeletion screening is a rapidly expanding activity. The development of a consensus on the indications for this screening and a standardised technique, with a national quality control, appears to be necessary. The funding of this analysis by French Social Security appears to be an essential step to ensure widespread use in routine practice. Lastly, the answers to our questionnaire revealed a strong demand for information concerning this analysis.

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Aknin-Seifer, I.E., Lejeune, H., Touraine, R.L. et al. Prescription et pratique de la recherche des microdélétions du chromosome Y en France: résultats de l’enquête nationale réalisée sous l’égide de la Société d’Andrologie de Langue Française. Androl. 13, 452–464 (2003). https://doi.org/10.1007/BF03035212

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