Clinical and cost-effectiveness of non-invasive cell-free DNA testing to optimise foetal outcomes for women with monogenic diabetes due to inactivating glucokinase gene mutations: a case series.

Abstract excerpt

BACKGROUND: Management of glucokinase-maturity-onset diabetes of the young (GCK-hyperglycaemia, or GCK-MODY) GC in pregnancy relies on knowledge of foetal genotype, which is traditionally estimated by foetal ultrasound measurements with poor diagnostic accuracy. Non-invasive pre-natal testing for GCK-MODY genotype (NIPT-GCK) has recently been developed (Exeter, United Kingdom) and is highly accurate but not...

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• Australia
• Cost-Benefit Analysis
• Diabetes Mellitus, Type 2
• Genetic Testing
• Glucokinase