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

AbstractHyperglycemia 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. Here we report a monogenic non-invasive prenatal diagnostic (NIPD-M) test on cell-free DNA in maternal plasma using relative haplotype dosage. In three pregnancies of two families with known maternalGCK mutations, we unambiguously determined the fetal genotype already at 12 weeks of gestation. In summary, we provide proof of feasibility for NIPD-M in  GCK diabetes.

Source: Journal of Diabetes Investigation - September 1, 2021 Category: Endocrinology Authors: Thierry Nouspikel, Jean ‐Louis Blouin, Jardena Puder, Bettina Köhler Ballan, Valerie M. Schwitzgebel Tags: SHORT REPORT Source Type: research