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Scientific article
Open access
English

Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations

Published inJournal of diabetes investigation, vol. 13, no. 2, p. 256-261
First online date2021-09-01
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.

eng
Keywords
  • Fetal DNA
  • Monogenic diabetes
  • Precision medicine
  • Diabetes Mellitus
  • Diabetes Mellitus, Type 2
  • Diagnostic Tests, Routine
  • Female
  • Glucokinase / genetics
  • Humans
  • Mutation
  • Precision Medicine
  • Pregnancy
  • Prenatal Diagnosis
Citation (ISO format)
NOUSPIKEL, Thierry et al. Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations. In: Journal of diabetes investigation, 2021, vol. 13, n° 2, p. 256–261. doi: 10.1111/jdi.13656
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Article (Published version)
Secondary files (8)
Identifiers
ISSN of the journal2040-1116
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Creation10/03/2022 2:14:52 PM
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