Genetic counseling for cystic fibrosis: A basic model with new challenges.
Cystic fibrosis
Genetic counseling
Genetic counselor
Non-invasive prenatal diagnosis
Pre-conception carrier screening
Preimplantation genetic diagnosis
Journal
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
ISSN: 1769-664X
Titre abrégé: Arch Pediatr
Pays: France
ID NLM: 9421356
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
entrez:
17
3
2020
pubmed:
17
3
2020
medline:
23
12
2020
Statut:
ppublish
Résumé
While the goals of genetic counseling for cystic fibrosis - delivering relevant information on the risk of recurrence and nondirectional support of couples at risk in their reproductive choices - have not changed fundamentally, the practice has evolved considerably in the last decade, growing more complex to face new challenges but also proving more effective. Many factors have contributed to this evolution: technical progress in the exploration of the genome (new generation sequencing) and in reproductive medicine, but also societal developments promoting access to genetic information and the professionalization of genetic counselors in France. The prospect of expanded pre-conception screening of at-risk couples makes genetic counselors major actors not only in medical care centers, but also in modern society by contributing to genetic education among citizens. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
Identifiants
pubmed: 32172934
pii: S0929-693X(20)30048-8
doi: 10.1016/S0929-693X(20)30048-8
pii:
doi:
Substances chimiques
DNA
9007-49-2
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
eS30-eS34Informations de copyright
© 2020 Elsevier Masson SAS. Tous droits réservés.