Neural tube defects (NTD) are one of the most common congenital birth defects. The reason for the NTD cause is still not completely known, but it is believed that some genetic and environmental factors might play a role in its etiology. Among the genetic factors the polymorphism in the folate gene pathway is crucial. Numerous studies have suggested the possible role of maternal higher plasma concentration of homocysteine and low concentration of folate and cobalamin in the development of NTD but some negative studies are also published.

中文翻译：

---

用于早期预测神经管缺陷妊娠的母体生物标志物

神经管缺陷（NTD）是最常见的先天性出生缺陷之一。NTD 病因的原因尚不完全清楚，但认为某些遗传和环境因素可能在其病因中起作用。在遗传因素中，叶酸基因通路的多态性是至关重要的。许多研究表明，母亲较高的血浆同型半胱氨酸浓度和低浓度的叶酸和钴胺素可能在 NTD 的发展中发挥作用，但也发表了一些负面研究。