Language
English
Publication Date
11-1-2025
Journal
Prenatal Diagnosis
DOI
10.1002/pd.6895
PMID
40973925
PMCID
PMC12611541
PubMedCentral® Posted Date
9-19-2025
PubMedCentral® Full Text Version
Post-print
Abstract
Fetal congenital anomalies and genetic disorders complicate 3%-5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management. The identification of new biomarkers holds promise for enhancing prenatal screening, diagnosis, and prognostic counseling in affected pregnancies. Recently, metabolomics has emerged as a potential adjunct in the interpretation of genetic variants identified through genome-wide sequencing for rare genetic conditions. To assess the potential of metabolomic profiling as a functional assay capable of providing deeper insights into the pathological processes and genetic findings associated with prenatal congenital anomalies, we conducted a comprehensive literature review. We searched MEDLINE (OVID), Embase (Elsevier), Web of Science (Clarivate), and Cochrane Library (Wiley) for relevant studies published through March 2025, focusing on metabolomic profiling of pregnancies affected by fetal structural anomalies or genetic disorders. While metabolomics is a promising tool in prenatal screening and diagnosis, its integration into clinical practice remains limited.
Keywords
Humans, Female, Pregnancy, Metabolomics, Prenatal Diagnosis, Congenital Abnormalities, Genetic Diseases, Inborn, Fetus
Published Open-Access
yes
Recommended Citation
Araji, Sarah; Turkoglu, Onur; Maktabi, Mohamad Ali; et al., "Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature" (2025). Library Staff Publications. 102.
https://digitalcommons.library.tmc.edu/library_docs/102