A survey of genetic counselling in neurogenetic diseases, including DM1

A French team conducted a study of 562 patients with autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. neurological diseases (Huntington’s disease, spinocerebellar ataxias, DM1, etc.).

• The vast majority of families feel that prenatal diagnosis is justified, especially when they feel that their disease is severe. It should be noted that in the case of Steinert’s disease (82 respondents), although only 68% of people replied that their disease was severe, 88% were in favour of prenatal diagnosis, probably because of the risk of having a child with a congenital form.
• Only 55% of people responded that the existence of prenatal and pre-implantation diagnosis is a motivation to inform family members who may be carriers of a genetic anomaly.

Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. Pierron L., Tezenas du Montcel S., Heinzmann A. et al. J Med Genet . 2022 Oct

 

Voir aussi « DM1 : que pensent les familles du conseil génétique ? »