Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations.
Détails
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Accès restreint UNIL
Etat: Public
Version: de l'auteur⸱e
Licence: CC BY-NC 4.0
ID Serval
serval:BIB_96D52F3B48D1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations.
Périodique
Journal of diabetes investigation
ISSN
2040-1124 (Electronic)
ISSN-L
2040-1116
Statut éditorial
Publié
Date de publication
02/2022
Peer-reviewed
Oui
Volume
13
Numéro
2
Pages
256-261
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
Hyperglycemia caused by mutations in the glucokinase gene, GCK, is the most common form of monogenic diabetes. Prenatal diagnosis is important, as it impacts on treatment. This study reports a monogenic non-invasive prenatal diagnostic (NIPD-M) test on cell-free DNA in maternal plasma using the relative haplotype dosage. In three pregnancies of two families with known maternal GCK mutations, the fetal genotype was determined unambiguously already at 12 weeks of gestation. In summary, proof is provided of the feasibility for NIPD-M in GCK diabetes.
Mots-clé
Diabetes Mellitus, Diabetes Mellitus, Type 2, Diagnostic Tests, Routine, Female, Glucokinase/genetics, Humans, Mutation, Precision Medicine, Pregnancy, Prenatal Diagnosis, Fetal DNA, Monogenic diabetes, Precision medicine
Pubmed
Web of science
Open Access
Oui
Création de la notice
15/09/2021 10:13
Dernière modification de la notice
12/03/2022 7:29