Explore the Role of Choline in the Pathogenesis of Neural Tube Defects

Deng S, Liu X, Chen S, Wan L, Dong W, Kang L. Explore the Role of Choline in the Pathogenesis of Neural Tube Defects. Birth Defects Res. 2026 Feb;118(2):e70019. doi: 10.1002/bdr2.70019. PMID: 41572543.

https://pubmed.ncbi.nlm.nih.gov/41572543/

Objective

To explore the influence of choline and its derivatives (betaine, phospholipids) on the occurrence and development of neural tube defects.

Methods

A narrative review of the available research evidence (including both animal and human studies), based on literature identified through structured searches of databases (e.g., PubMed) and relevant references.

Results

Choline is an essential nutrient and plays a key role in a variety of physiological processes. Neural tube defects (e.g., anencephaly, spina bifida) are severe congenital malformations of the central nervous system. Folate deficiency is recognized as a major risk factor. Emerging evidence suggests that choline deficiency may become an important risk factor for neural tube defects even in populations where folic acid fortification is implemented. Studies in animals and humans have shown that choline supplementation during pregnancy significantly reduces the risk for neural tube defects.

Conclusion

Choline and its derivatives are essential for neural tube development. Choline deficiency is an important potential risk factor for neural tube defects, especially in the context of folic acid supplementation, and choline supplementation during pregnancy may be effective in reducing its risk.