Dépistage de variant du gène CFTR chez les candidats au don de gamètes en France : quand ? Comment ? Pourquoi ?

Abstract

Objectives

According to French recommendations, only the caryotype is carried out as a first line in candidates for gamete donation. The prescription of additional genetic tests for variants responsible for serious monogenic diseases is only recommended in the case of call points. However, cystic fibrosis remains the most common genetic disease with serious consequences in childhood. The purpose is to assess the different screening strategies in the Centres d’Études et de Conservation des Œufs et du Sperme humain (CECOS) regarding abnormalities of the Cystic Fibrosis Transmembrane conductance Regulator gene (CFTR).

Method

Our study is based on the analysis of data collected using a questionnaire. Private centres authorised to donate have been excluded from this work.

Results

Twenty-six centres participated out of the 33 interviewees. Two centres carry out systematic screening in all their sperm donation candidates while only one centre practises it in its oocyte donation candidates. For the other 23 centres, research is carried out in case of strong clinical suspicions according to personal or family history and when one of the two members of the recipient couple has a known variant. Regarding the molecular analysis technique used, 56.5% of centres use PCR with commercial kits, whereas the other centers use next-generation sequencing.

Conclusion

Targeted screening therefore remains widely practiced in France unlike other countries. Moving to expanded systematic screening raises ethical, financial and organisational issues.