Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations.
J Diabetes Investig
; 13(2): 256-261, 2022 Feb.
Article
em En
| MEDLINE
| ID: mdl-34469064
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diabetes Mellitus
/
Diabetes Mellitus Tipo 2
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
J Diabetes Investig
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Suíça