Open AccessPrecision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations
Author(s) -
Nouspikel Thierry,
Blouin JeanLouis,
Puder Jardena J,
Köhler Ballan Bettina,
Schwitzgebel Valerie M
Publication year - 2022
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.13656
Subject(s) - medicine , glucokinase , diabetes mellitus , prenatal diagnosis , cell free fetal dna , genetic testing , fetus , pregnancy , genotype , obstetrics , gestation , gene , bioinformatics , endocrinology , genetics , biology
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.