What Are the Risk Factors for Neural Tube Defects

What Are the Risk Factors for Neural Tube Defects?

• Family and genetics. Neural tube defects are linked to genetics. Genes have been identified to be associated with the cause of neural tube defects, among which MTHFR gene mutations are well documented. The MTHFR gene encodes an enzyme that is responsible for converting homocysteine to methionine. Mutations in the gene disrupt this biochemical pathway and result in the accumulation of homocysteine in the fetal brain. Homocysteine is a neurotoxin. High concentrations of homocysteine in the brain increase the risk of neural tube defects.

• Folic acid (vitamin B9). Folic acid deficiency increases the risk of neural tube defects. Supplementation with folic acid for women before conception and during gestation reduces the risk of neural tube defects by 70%. Folic acid is involved in one-carbon metabolism, which supports the synthesis and repair of DNA in the neurons. Folic acid deficiency causes errors in the synthesis and repair of DNA, leading to gene mutations, increasing the risk of neural tube defects. One-carbon metabolic pathways convert homocysteine to methionine and decrease homocysteine contents in the brain.

• Obesity. Obese pregnant women have a twofold increased risk of giving birth to infants with neural tube defects compared to nonobese pregnant women.

• Diabetes. Pregnant women who have diabetes and have high blood glucose levels have an increased risk of giving birth to babies with neural tube defects. Glucose at high concentrations is a teratogen that disturbs the development of the fetus, increasing the risk of neural tube defects in the infants of pregnant women with diabetes.

• Anticonvulsant drugs. Pregnant women who take anticonvulsant drugs—such as phenytoin, carbamazepine, valproic acid, and aminopterin—have a greater risk of giving birth to infants with neural tube defects.

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