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Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics
Yahong Li1, Yun Sun1, Lan Yang2
1Center of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
Insights
Researchers identified uric acid in amniotic fluid as a potential biomarker for detecting congenital heart disease (CHD) in fetuses. This discovery could lead to improved early diagnosis and management of CHD, reducing harm to newborns.
Area of Science:
- Biochemistry
- Medical Diagnostics
- Fetal Medicine
Background:
- Congenital heart disease (CHD) is the most prevalent birth defect.
- Current prenatal diagnosis relies on ultrasound, detecting only about 40% of fetal CHD cases.
- Early detection is crucial for managing CHD and mitigating fetal harm.
Purpose of the Study:
- To identify reliable biomarkers in amniotic fluid (AF) for second-trimester fetal CHD detection.
- To improve prenatal management strategies for fetuses diagnosed with CHD.
- To reduce the adverse impacts of CHD on fetal development.
Main Methods:
- Analysis of untargeted metabolite profiles in amniotic fluid from CHD and control groups.
- Utilized gas chromatography/time-of-flight-mass spectrometry (GC-TOF/MS) for metabolite profiling.
- Employed orthogonal partial least square discrimination analysis (OPLS-DA) to differentiate metabolic profiles.
Main Results:
- Significant differences in metabolic profiles were observed between CHD and control samples.
- Uric acid and proline levels were significantly elevated in fetuses with CHD, confirmed across discovery and validation sets.
- Uric acid demonstrated a strong association with CHD, with notable predictive power (AUC 0.741-0.890) and diagnostic accuracy.
Conclusions:
- Uric acid is identified as a promising biomarker for prenatal detection of congenital heart disease.
- This finding may facilitate further research into CHD's pathological mechanisms.
- The discovery holds potential for developing novel clinical diagnostic tests for CHD.
Abstract:
Congenital heart disease (CHD) is the most common birth defect. The prenatal diagnosis of fetal CHD is completely dependent on ultrasound testing, but only ~40% of CHD can be detected. The purpose of this study is to find good biomarkers in amniotic fluid (AF) to detect CHD in the second trimester, so as to better manage this group of people and reduce the harm of CHD to the fetus. Metabolites analysis were performed in two separate sets. The discovery set consisted of 18 CHD fetal maternal AF samples and 35 control samples, and the validation set consisted of 53 CHD fetal maternal AF samples and 114 control samples. Untargeted metabolite profiles were analyzed by gas chromatography/time-of-flight-mass spectrometry (GC-TOF/MS). Orthogonal partial least square discrimination analysis (OPLS-DA) demonstrated that CHD and control samples had significantly different metabolic profiles. Two metabolites, uric acid and proline, were significantly elevated in CHD and verified in two data sets. Uric acid was associated with CHD [odds ratio (OR): 7.69 (95% CI: 1.18-50.13) in the discovery set and 3.24 (95% CI:1.62-6.48) in the validation set]. Additionally, uric acid showed moderate predictive power; the area under curve (AUC) was 0.890 in the discovery set and 0.741 in the validation set. The sensitivity and specificity of uric acid to detect CHD was, respectively, 94.4 and 74.3% in the discovery set and 67.9 and 71.9% in the validation set. The identification of uric acid as a biomarker for CHD has the potential to stimulate research on the pathological mechanism of CHD and the development of a diagnostic test for clinical applications.
