Neural Tube Defects (Risk Assessment)
What is Neural Tube Defects (Risk Assessment)?
Neural tube defects are birth conditions that happen when the brain, spine, or spinal cord does not form correctly during early pregnancy. The neural tube is a structure that forms in the first month of pregnancy and develops into the baby's brain and spinal cord. When this tube does not close properly, it leads to serious health problems.
The two most common types are spina bifida and anencephaly. Spina bifida occurs when the spine does not close completely, which can cause nerve damage and mobility problems. Anencephaly is a more severe condition where major parts of the brain and skull do not develop. Most babies with anencephaly do not survive.
Neural tube defects develop very early in pregnancy, often before a woman knows she is pregnant. This is why preconception planning and risk assessment are so important. Certain genetic factors can increase the risk of these conditions by 2 to 3 times. Testing for these genetic factors helps women understand their risk and take steps to protect their future baby.
Symptoms
Neural tube defects are birth conditions that affect babies, not symptoms in adults. However, understanding risk factors helps you plan for a healthy pregnancy.
- Family history of neural tube defects in previous pregnancies
- Low folate levels or poor folate absorption
- Taking certain seizure medications during pregnancy
- Having diabetes before pregnancy
- Being obese before pregnancy
- Hispanic ethnicity, which has higher rates of neural tube defects
Many women with increased genetic risk have no symptoms or health problems themselves. The risk shows up only during pregnancy when folate needs are much higher.
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Causes and risk factors
Neural tube defects happen when the neural tube does not close properly in the first 28 days after conception. Folate, also called folic acid, plays a critical role in this process. Without enough folate, the cells cannot divide and grow correctly during this important time. Certain genetic mutations affect how the body processes folate, which increases risk even when diet seems adequate.
The MTHFR gene mutation is one of the most important genetic risk factors. People with two copies of the C677T mutation have difficulty converting folate into its active form. This can reduce folate availability by 30 to 70 percent during the critical period of neural tube formation. Other risk factors include previous pregnancy affected by neural tube defects, diabetes, obesity, and taking certain medications. Low dietary folate intake remains a major preventable cause in many cases.
How it's diagnosed
Risk assessment for neural tube defects happens before pregnancy through genetic testing and nutritional evaluation. The MTHFR gene mutation test identifies whether you carry genetic variants that affect folate metabolism. This simple blood test shows if you have one or two copies of the C677T mutation. Knowing your status helps you and your doctor create a personalized prevention plan before you conceive.
Rite Aid offers MTHFR testing as an add-on to help you understand your genetic risk for neural tube defects. Testing before pregnancy gives you time to adjust your folate intake and work with your healthcare provider. During pregnancy, neural tube defects can be detected through ultrasound and maternal blood tests, but prevention is always better than detection. If you are planning to get pregnant or have a family history of neural tube defects, genetic testing provides valuable information for your pregnancy journey.
Treatment options
Prevention is the primary approach for neural tube defects, and it works remarkably well when started before pregnancy.
- Take folic acid supplements before conception and during early pregnancy
- Women with MTHFR mutations may need higher doses of folic acid or methylfolate, the active form
- Eat folate-rich foods like leafy greens, beans, citrus fruits, and fortified grains
- Maintain healthy blood sugar levels if you have diabetes
- Reach a healthy weight before pregnancy if possible
- Review all medications with your doctor before trying to conceive
- Work with a healthcare provider who understands your genetic risk factors
Women with normal MTHFR genes should take 400 to 800 micrograms of folic acid daily starting at least one month before pregnancy. Women with MTHFR mutations or a previous pregnancy affected by neural tube defects may need 4,000 micrograms or more. Your doctor can recommend the right dose based on your genetic test results and health history.
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- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Neural tube defects are birth conditions where the brain, spine, or spinal cord does not form correctly in early pregnancy. The neural tube normally closes within the first month after conception. When it does not close properly, it causes conditions like spina bifida or anencephaly. These conditions can range from mild to life-threatening.
The MTHFR gene helps your body convert folate into its active form, which is essential for DNA production and cell growth. When you have two copies of the C677T mutation, this conversion process is much less efficient. During early pregnancy, when cells are dividing rapidly to form the neural tube, this can create a folate shortage. The result is a 2 to 3 times higher risk of neural tube defects.
Testing for MTHFR is helpful if you are planning a pregnancy, especially if you have a family history of neural tube defects. Knowing your genetic status helps you and your doctor plan the right folate supplementation strategy. Women with MTHFR mutations often need higher doses of folic acid or a special form called methylfolate. Testing gives you time to start the right supplements before conception.
Women with MTHFR mutations typically need more folic acid than the standard 400 to 800 micrograms. Many doctors recommend 1,000 to 5,000 micrograms daily, or they may prescribe methylfolate instead. Methylfolate is already in the active form, so it bypasses the enzyme that does not work well in MTHFR mutations. Your doctor will determine the right dose based on your specific mutation and health history.
Yes, up to 70 percent of neural tube defects can be prevented with adequate folic acid intake before and during early pregnancy. The key is starting supplementation at least one month before conception, because the neural tube closes very early. Genetic testing helps identify women who need higher doses or special forms of folate. Combining proper supplementation with healthy lifestyle choices provides the best protection.
Folic acid is the synthetic form of folate found in most supplements and fortified foods. Your body must convert it into methylfolate, the active form that cells can actually use. People with MTHFR mutations have trouble making this conversion. Methylfolate supplements skip this step and provide the active form directly, which can be more effective for people with genetic mutations.
Start taking folic acid at least one month before you begin trying to conceive. The neural tube forms and closes between days 21 and 28 after conception, often before you know you are pregnant. Having adequate folate levels in your body before conception ensures protection during this critical window. If you have MTHFR mutations, talk to your doctor even earlier to plan your supplementation strategy.
Yes, eating folate-rich foods supports healthy neural tube development. Good sources include spinach, kale, lentils, black beans, asparagus, oranges, and fortified breakfast cereals. However, diet alone is usually not enough to reach the levels needed for prevention. Most experts recommend combining folate-rich foods with supplements, especially if you have genetic risk factors or have had a previous affected pregnancy.
Besides MTHFR mutations, several factors increase risk. These include previous pregnancy with a neural tube defect, diabetes before pregnancy, obesity, and taking certain anti-seizure medications. Hispanic women have higher rates of neural tube defects compared to other groups. Low dietary folate intake and lack of supplementation remain major risk factors that can be easily addressed.
Yes, fathers can pass MTHFR mutations to their children because this is a genetic trait inherited from both parents. However, the risk of neural tube defects is primarily related to folate levels in the mother during early pregnancy. If a father has MTHFR mutations, his children may inherit the gene, but maternal folate status is what matters most for neural tube development. Both parents should consider testing if planning a family.