Rísová Vanda, Saade Rami, Jakuš Vladimír, Gajdošová Lívia, Varga Ivan, Záhumenský Jozef
Institute of Histology and Embryology, Faculty of Medicine, Comenius University, 813 72 Bratislava, Slovakia.
2nd Department of Gynecology and Obstetrics, University Hospital Bratislava and Comenius University, 821 01 Bratislava, Slovakia.
Nutrients. 2024 Dec 31;17(1):126. doi: 10.3390/nu17010126.
Neural tube defects (NTDs) are malformations of the central nervous system that represent the second most common cause of congenital morbidity and mortality, following cardiovascular abnormalities. Maternal nutrition, particularly folic acid, a B vitamin, is crucial in the etiology of NTDs. FA plays a key role in DNA methylation, synthesis, and repair, acting as a cofactor in one-carbon transfer reactions essential for neural tube development. Randomized trials have shown that FA supplementation during preconceptional and periconceptional periods reduces the incidence of NTDs by nearly 80%. Consequently, it is recommended that all women of reproductive age take 400 µg of FA daily. Many countries have introduced FA fortification of staple foods to prevent NTDs, addressing the high rate of unplanned pregnancies. These policies have increased FA intake and decreased NTD incidence. Although the precise mechanisms by which FA protects against NTDs remain unclear, compelling evidence supports its efficacy in preventing most NTDs, leading to national recommendations for FA supplementation in women. This review focuses on preconceptional and periconceptional FA supplementation in the female population of the Visegrad Group countries (Slovakia, Czech Republic, Poland, and Hungary). Our findings emphasize the need for a comprehensive approach to NTDs, including FA supplementation programs, tailored counseling, and effective national-level policies.
神经管缺陷（NTDs）是中枢神经系统的畸形，是仅次于心血管异常的第二大常见先天性发病和死亡原因。母体营养，尤其是叶酸（一种B族维生素），在神经管缺陷的病因中起着关键作用。叶酸在DNA甲基化、合成和修复中起关键作用，作为一碳转移反应中的辅助因子，对神经管发育至关重要。随机试验表明，在孕前和孕早期补充叶酸可使神经管缺陷的发生率降低近80%。因此，建议所有育龄妇女每天摄入400微克叶酸。许多国家已对主食进行叶酸强化以预防神经管缺陷，应对意外怀孕率高的问题。这些政策增加了叶酸摄入量，降低了神经管缺陷的发生率。尽管叶酸预防神经管缺陷的确切机制尚不清楚，但有力证据支持其预防大多数神经管缺陷的功效，从而导致各国建议妇女补充叶酸。本综述重点关注维谢格拉德集团国家（斯洛伐克、捷克共和国、波兰和匈牙利）女性人群的孕前和孕早期叶酸补充情况。我们的研究结果强调需要采取综合方法来应对神经管缺陷，包括叶酸补充计划、量身定制的咨询服务以及有效的国家级政策。
