ArticleDiabetologia2023
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
Article in Diabetologia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2026Pooled it
- Insights into the genetic aetiology of diabetes in Africa.EBioMedicine · 2026Review
- Personalized management of glucokinase-related monogenic diabetes (GCK-MODY) during pregnancy: a case report.Frontiers in endocrinology · 2026Article
- Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.The Medical journal of Australia · 2025Article
- Continuous Glucose Monitoring in Glucokinase-maturity-onset Diabetes of the Young Pregnancy: A Treatment Paradigm Change.JCEM case reports · 2025Article
- Pregnancy and neonatal outcomes in women with GCK-MODY: an observational study based on standardised insulin modalities.Diabetologia · 2025Observational
- Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025Article
- Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.International journal of molecular sciences · 2024Review
- Management of pregnancy in women with monogenic diabetes due to mutations inFrontiers in genetics · 2024Review
- Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatalFrontiers in medicine · 2024Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
aims/hypothesisIn pregnancies where the mother has glucokinase-MODY (GCK-MODY), fetal growth is determined by fetal genotype. When the fetus inherits a maternal pathogenic GCK variant, normal fetal growth is anticipated, and insulin treatment of maternal hyperglycaemia is not recommended. At present, fetal genotype is estimated from measurement of fetal abdominal circumference on ultrasound. Non-invasive prenatal testing of fetal GCK genotype (NIPT-GCK) using cell-free DNA in maternal blood has recently been developed. We aimed to compare the diagnostic accuracy of NIPT-GCK with that of ultrasound, and determine the feasibility of using NIPT-GCK to guide pregnancy management.
methodsWe studied an international cohort of pregnant women with hyperglycaemia due to GCK-MODY. We compared the diagnostic accuracy of NIPT-GCK with that of measurement of fetal abdominal circumference at 28 weeks' gestation (n=38) using a directly genotyped offspring sample as the reference standard. In a feasibility study, we assessed the time to result given to clinicians in 43 consecutive pregnancies affected by GCK-MODY between July 2019 and September 2021.
resultsIn terms of diagnostic accuracy, NIPT-GCK was more sensitive and specific than ultrasound in predicting fetal genotype (sensitivity 100% and specificity 96% for NIPT-GCK vs sensitivity 53% and specificity 61% for fetal abdominal circumference 75th percentile). In terms of feasibility, a valid NIPT-GCK fetal genotype (≥95% probability) was reported in all 38 pregnancies with an amenable variant and repeated samples when needed. The median time to report was 5 weeks (IQR 3-8 weeks). For the 25 samples received before 20 weeks' gestation, results were reported at a median gestational age of 20 weeks (IQR 18-24), with 23/25 (92%) reported before 28 weeks. CONCLUSIONS/
interpretationNon-invasive prenatal testing of fetal genotype in GCK-MODY pregnancies is highly accurate and is capable of providing a result before the last trimester for most patients. This means that non-invasive prenatal testing of fetal genotype is the optimal approach to management of GCK-MODY pregnancies.
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