The association analysis results of NTDs and SNPs showed that the MTHFR 677C > T gene of SNPs and MTHFR 1298A > C gene were associated with pregnant women with neural tube defects in children, and the 677C > T gene was a risk factor, while the 1298A > C gene was a protective factor; environmental risk factors have a synergistic effect on the occurrence of NTDs. Here, MTHFR is linked to isolated spina bifida.