ArticleClinical chemistry2020
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
Article in Clinical chemistry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders.Diagnostics (Basel, Switzerland) · 2026Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Pregnancy and neonatal outcomes in women with GCK-MODY: an observational study based on standardised insulin modalities.Diabetologia · 2025Observational
- The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.International journal of molecular sciences · 2024Article
- Clinical evaluation of droplet digital PCR in the early identification of suspected sepsis patients in the emergency department: a prospective observational study.Frontiers in cellular and infection microbiology · 2024Observational
- Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatalFrontiers in medicine · 2024Article
- 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.Diabetologia · 2023Article
- Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility.Heliyon · 2023Review
- Clinical Diagnostic Performance of Droplet Digital PCR for Suspected Bloodstream Infections.Microbiology spectrum · 2023Article
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- GCK-MODY in pregnancy: A pregnant woman with diabetes and a small-for-gestational-age fetus.Clinical case reports · 2022Article
- Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.Clinical science (London, England : 1979) · 2022Article
- Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction.Current genomics · 2022Review
- How do I diagnose Maturity Onset Diabetes of the Young in my patients?Clinical endocrinology · 2022Review
- Image Segmentation and Quantification of Droplet dPCR Based on Thermal Bubble Printing Technology.Sensors (Basel, Switzerland) · 2022Article
- Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations.Journal of diabetes investigation · 2022Article
- Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY.The Journal of clinical endocrinology and metabolism · 2021Article
- A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.Life (Basel, Switzerland) · 2021Article
- Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment ofDiagnostics (Basel, Switzerland) · 2021Article
- Two decades since the fetal insulin hypothesis: what have we learned from genetics?Diabetologia · 2021Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundBabies of women with heterozygous pathogenic glucokinase (GCK) variants causing mild fasting hyperglycemia are at risk of macrosomia if they do not inherit the variant. Conversely, babies who inherit a pathogenic hepatocyte nuclear factor 4α (HNF4A) diabetes variant are at increased risk of high birth weight. Noninvasive fetal genotyping for maternal pathogenic variants would inform pregnancy management.
methodsDroplet digital PCR was used to quantify reference and variant alleles in cell-free DNA extracted from blood from 38 pregnant women heterozygous for a GCK or HNF4A variant and to determine fetal fraction by measurement of informative maternal and paternal variants. Droplet numbers positive for the reference/alternate allele together with the fetal fraction were used in a Bayesian analysis to derive probability for the fetal genotype. The babies' genotypes were ascertained postnatally by Sanger sequencing.
resultsDroplet digital PCR assays for GCK or HNF4A variants were validated for testing in all 38 pregnancies. Fetal fraction of ≥2% was demonstrated in at least 1 cell-free DNA sample from 33 pregnancies. A threshold of ≥0.95 for calling homozygous reference genotypes and ≤0.05 for heterozygous fetal genotypes allowed correct genotype calls for all 33 pregnancies with no false-positive results. In 30 of 33 pregnancies, a result was obtained from a single blood sample.
conclusionsThis assay can be used to identify pregnancies at risk of macrosomia due to maternal monogenic diabetes variants.
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