Abstract To investigate the clinical value of individualized folic acid supplementation guided by methylene tetrahydrofolate reductase (MTHFR) and methionine synthetic reductase (MTRR) gene detection for preventing of neonatal deficient diseases. Methods: From January 2015 to October 2018, 4621 women of childbearing age who wanted to pregnancy were selected and were divided into two groups according to the voluntary principle. Among them, 2745 women in observation group had received personalized folic acid supplementation guidance based on their folate utilization capacity risk grade assessed by the detection results of MTHFR C677T locus, A1298C locus, and MTRR A66G locus gene polymorphism after venous blood collected before pregnancy. And 1876 women in the control group were given traditional folic acid supplement. The incidence of neonatal deficient diseases and adverse pregnancy outcomes of women in both groups were observed. Results: The genotypes and alleles of MTRR A66G locus of women in the observation group had no significant different from those of Chinese norm. Among the women in the observation group, 549 (20.0%) women had normal folic acid utilization ability, while 247 (9.0%) women had less folic acid utilization ability, 823 (30.0%) women had poor folic acid utilization ability, and 1126 (41.0%) had very poor folic acid utilization ability. 4431 (96.0%) women had been followed up. 2732 women in the observation group had pregnancy, among them, 0.11% women with spontaneous abortion, 0.15% women with preterm birth, 0.09% newborn with 21-trisomorphy, 0.09% newborn with neural tube malformation, 0.09% newborn with cleft lip and palate, 0.06% fetal growth restriction, and 0.09% newborn with congenital heart disease, which were all significant lower than those in the control group (P＜0.05). Conclusion: The detection result of MTHFR gene locus C to T mutations of pregnant women can guide individualized supplementation of folic acid for reducing the incidence of neonatal deficient diseases and improving the quality of newborns.
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