Abstract
Pregnancy is a complicated and insidious state with various aspects to consider, including the well-being of the mother and child. Developing better non-invasive tests that cover a broader range of disorders with lower false-positive rates is a fundamental necessity in the prenatal medicine field, and, in this sense, the application of metabolomics could be extremely useful. Metabolomics measures and analyses the products of cellular biochemistry. As a biomarker discovery tool, the integrated holistic approach of metabolomics can yield new diagnostic or therapeutic approaches. In this review, we identify and summarize prenatal metabolomics studies and identify themes and controversies. We conducted a comprehensive search of PubMed and Google Scholar for all publications through January 2020 using combinations of the following keywords: nuclear magnetic resonance, mass spectrometry, metabolic profiling, prenatal diagnosis, pregnancy, chromosomal or aneuploidy, pre-eclampsia, fetal growth restriction, pre-term labor, and congenital defect. Metabolite detection with high throughput systems aided by advanced bioinformatics and network analysis allowed for the identification of new potential prenatal biomarkers and therapeutic targets. We took into consideration the scientific papers issued between the years 2000–2020, thus observing that the larger number of them were mainly published in the last 10 years. Initial small metabolomics studies in perinatology suggest that previously unidentified biochemical pathways and predictive biomarkers may be clinically useful. Although the scientific community is considering metabolomics with increasing attention for the study of prenatal medicine as well, more in-depth studies would be useful in order to advance toward the clinic world as the obtained results appear to be still preliminary. Employing metabolomics approaches to understand fetal and perinatal pathophysiology requires further research with larger sample sizes and rigorous testing of pilot studies using various omics and traditional hypothesis-driven experimental approaches.
Highlights
The “-omics revolution” has brought promising options for high-throughput network-based analysis of DNA, RNA, proteins, and metabolites
Metabolomics is a novel and promising area of research in reproductive medicine. It can be placed in the field of precision medicine, aiming, in general, at developing personalized strategies to manage disease states by considering, at the same time, the patient’s genetics, environment, lifestyle, and individual treatment responses
Considering the current prenatal screening methods, it is clear that genetics plays the most relevant role, but metabolomics can generate new insights into the biological and physio/pathological processes
Summary
The “-omics revolution” has brought promising options for high-throughput network-based analysis of DNA, RNA, proteins, and metabolites. Metabolic fingerprinting is a global screening approach that identifies metabolite patterns or “fingerprints” that are associated with known biochemical pathways, specific responses to external stimuli or endogenous signals, or disease processes. Informative metabolomic analyses identify and quantify targeted or untargeted metabolites This approach has been used to develop metabolic databases and to identify critical pathophysiologic pathways, bioactive molecules, and function or disease biomarkers. Identify metabolic endpoint differences between samples from control and disease populations or before and after specific treatments or perturbation This approach is typically performed using regression and other multivariate analyses to define clear diagnostic thresholds. In predictive studies, investigators use metabolic fingerprinting models based on a statistical analysis of metabolite profiles to generate predictive global algorithms that are difficult or impossible to achieve with other more focussed approaches.
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