What causes neural tube defects?

Charla Simon
OBGYN (Obstetrics & Gynecology)

Improper closure of the embyonic neural tube causes neural tube defects.  This closure happens sometime between 6-8 gestational weeks (very early in pregnancy).  The location of the abnormal closure along the neural tube determines where the defect results (cervical spine, thoracic spine, or lumbosacral spine). 

Why the neural tube closes abnormally is unknown.  It is thought to have a multifactorial basis.  Also the different types of neural tube defects (anencephaly, spina bifida, and encephalocele) may have different etiologies. 

Dietary issues in the mother, immunologic abnormalities involving folate receptors, genetic abnormalities in how the neural tube closes, maternal hyperthermia, use of certain anti-epileptic medications (valproic acid) at the time of conception, maternal obesity, and some chronic maternal diseases (diabetes mellitus) have all been shown to increase the chance of having a baby with neural tube defects.

Research has shown that low maternal folate or vitamin B12 levels or abnormal handling of a molecule called homocysteine (impaired re-methylation) can contribute to a defective closure (and increase the risk of having a baby with a neural tube defect).  Folate deficiency has been most stronly implicated in increasing the risk of neural tube defects.  Dietary issues that could cause these abnormal maternal blood levels (low folate or vitamin B12) include decreased consumption of meat and fresh vegetables.  To decrease the chance of women having infants with neural tube defects many countries supplement the food supply with folic acid.  In the United States all enriched cereal and grain products have supplemental folic acid.  However in addition to this all women considering pregnancy should take a folic acid supplement daily to decrease the chance of having an affected baby (at least 400 mcg).  

Neural tube defects are caused by the improper development of a fetus's spinal cord and brain during the early stages of the mother's pregnancy. During the first month of pregnancy, a structure called the neural tube, which will eventually become the baby's spinal cord and brain, fails to close properly and is damaged as a result. Researchers are still investigating the causes of this improper development of the neural tube. It is thought that in some cases it is due to a lack of essential nutrients, such as a type of B vitamin called folic acid. Researchers are also looking into genetic causes and the effect of the mother's health on the fetus.

Continue Learning about Birth Defects

Birth Defects

Birth Defects

The cause of most birth defects is unknown, though genetics and environmental factors can play a role. While prenatal tests can detect some birth defects, many are not found immediately. Some birth defects can be prevented by taki...

ng vitamins with folic acid before conception and avoiding known contaminants such as smoking, alcohol and illegal drugs.

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.