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Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics
Li-Chao Zhang1,2, Xiang-Chun Yang1,2, Yong-Hong Jiang3
1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Prenatal Diagnosis
|November 1, 2024
Summary
Metabolomics analysis of amniotic fluid identified significant metabolic alterations in Down syndrome (DS). These findings reveal potential biomarkers for developing a highly accurate screening tool for trisomy 21.
Area of Science:
- Biochemistry
- Genetics
- Medical Diagnostics
Background:
- Down syndrome (DS), or trisomy 21, is a genetic disorder characterized by intellectual disability and distinct physical features.
- Early detection and understanding of DS pathophysiology are crucial for improved management and intervention.
- Metabolomics offers a novel approach to analyze functional changes associated with genetic conditions.
Purpose of the Study:
- To investigate the utility of metabolomics in identifying biomarkers for Down syndrome in amniotic fluid.
- To explore early pathophysiological changes in trisomy 21 using metabolic profiling.
- To develop a potential screening method for DS based on metabolic markers.
Main Methods:
- Amniotic fluid samples were collected from pregnancies with and without DS.
- Targeted and untargeted metabolomics analyses were performed on 34 organic acids, 17 amino acids, 5 acylcarnitines, and 602 lipids.
- Statistical analyses, including OPLS-DA and FDR adjustments, were employed to identify differential metabolites and pathways.
Main Results:
- Fifty differential metabolites, including L-glutamine, organic acids, and lipids, were significantly altered in DS pregnancies.
- Analysis of 212 differential metabolites revealed significant changes in nine metabolic pathways.
- A screening model using fourteen key metabolites achieved an area under the curve of 1.00 for DS detection.
Conclusions:
- Metabolomics approaches can identify reliable biomarker combinations for Down syndrome screening.
- These findings highlight the potential of amniotic fluid metabolomics for early DS detection.
- The identified biomarkers demonstrate promising performance for a DS screening tool.
