Program
Nurse-Midwifery M.S.
Number of Pages
41
Year Approved
2025
First Advisor
Wu, Katrina
Second Reader
Paige Hardy
Abstract
Introduction: Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and inherited thrombophilia, such as Factor V Leiden and Prothrombin G20210A, have been implicated in adverse pregnancy outcomes, including recurrent pregnancy loss, preeclampsia, fetal growth restriction, and preterm birth. This integrative review explores how genetic insights into MTHFR polymorphisms and inherited thrombophilia can guide precision medicine, including both screening and therapeutic intervention, to optimize perinatal outcomes. Methods: An integrative literature review was conducted following Whittemore and Knafl’s methodology. Research databases including PubMed, CINAHL, Scopus, and ScienceDirect were searched for studies published or translated to English within the last twenty years that examined MTHFR polymorphisms, inherited thrombophilia, pregnancy outcomes, and precision medicine interventions. A total of twenty-four studies met the inclusion criteria, which was synthesized using the Precision Medicine Theory framework. Results: Findings indicate that MTHFR polymorphisms and inherited thrombophilia significantly contribute to complications through hyperhomocysteinemia-induced endothelial dysfunction, oxidative stress, and hypercoagulability. Precision screening strategies, including next-generation sequencing and polygenic risk scoring, improve risk stratification in individuals. Targeted interventions such as vitamin B complex supplementation, methylated folate supplementation, anticoagulation therapy with low molecular weight heparin and acetylsalicylic acid demonstrate improved outcomes in some high-risk individuals. However, the benefits of routine genetic screening and targeted interventions remain inconclusive. Discussion: Precision medicine approaches integrating genetic screening and targeted treatment strategies that are individualized offer a promising avenue to improve perinatal outcomes. Perinatal providers play a critical role in advocating for the advancement of evidence-based genetic screening guidelines and targeted, individualized interventions to further delineate clinical guidelines. Further research is needed to establish standardized genetic screening protocols, assess the cost-effectiveness of precision medicine interventions, and expand genomic studies to more diverse populations and clinical scenarios.
Degree Name
M.S. Nurse-Midwifery
Document Type
Masterʼs thesis
Recommended Citation
Hash, T. (2025). Genetic Insights Into Methylenetetrahydrofolate Reductase Polymorphisms and Inherited Thrombophilia: Advancing Precision Screening and Therapeutic Interventions to Optimize Perinatal Outcomes [Masterʼs thesis, Bethel University]. Spark Repository. https://spark.bethel.edu/etd/1164
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