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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Fetal growth disorders detection during first trimester gestation through comprehensive maternal circulating DNA
Rene Cortese1,2,3, Kylie Cataldo1,2, Justin Hummel3
1Department of Gynecology, Obstetrics and Women's Health, University of Missouri, 1 Hospital Dr. Columbia, MO 65212, United States.
Human Molecular Genetics
|April 23, 2025
Summary
Maternal blood circulating DNA (cirDNA) analysis in early pregnancy can accurately detect fetal growth disorders (FGD). This novel marker panel shows promise for non-invasive prediction, advancing precision medicine for FGD.
Area of Science:
- Obstetrics and Gynecology
- Molecular Diagnostics
- Genetics
Background:
- Fetal Growth Disorders (FGD) require early detection and management.
- Hypothesis: Fetoplacental alterations in FGD are detectable in maternal blood's circulating DNA (cirDNA) during the first trimester.
Purpose of the Study:
- To investigate the potential of maternal plasma cirDNA profiles for early detection of Fetal Growth Disorders (FGD).
- To develop a molecular signature for predicting Small for Gestational Age (SGA) and Large for Gestational Age (LGA) fetuses.
Main Methods:
- Plasma cirDNA was isolated from first-trimester maternal blood (n=56).
- Analyzed cirDNA concentration, fragmentation, mitochondrial/nuclear ratio, and methylation profiles using qPCR.
- Applied machine learning and ROC analysis to predict SGA and LGA status.
Main Results:
- Elevated cirDNA concentration, fragmentation, and mitochondrial/nuclear ratio observed in SGA and LGA pregnancies compared to Appropriate for Gestational Age (AGA).
- Identified 5 differentially methylated genes (HSD2, RASSF1, CYP19A1, IL10, LEP) in first-trimester samples.
- The cirDNA marker signature achieved high accuracy (AUC > 0.95) in discriminating FGD from AGA pregnancies, with 88.8% PPV and 85.7% NPV.
Conclusions:
- Maternal blood cirDNA profiles accurately detect early gestation FGD.
- The novel marker panel offers potential for minimally invasive prediction of FGDs.
- This approach paves the way for precision medicine in managing Fetal Growth Disorders.
Keywords:
Circulating DNA analysisEarly fetal growth assessmentFetal growth disordersNon-invasive prenatal testingMore Related Videos
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