Understanding Lab Tests for Neural Tube Defects
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Neural tube defects are serious birth defects affecting the brain, spine, or spinal cord that occur during early fetal development. These conditions, including spina bifida and anencephaly, are typically diagnosed through imaging studies during pregnancy. While there is no blood test to diagnose neural tube defects themselves, laboratory testing plays a crucial role in assessing risk factors and supporting prevention strategies.
Top Recommended Test
Folate, RBC
This test measures folate stored in red blood cells, providing a better indicator of long-term folate status. During early fetal development, low folate levels in pregnant women can lead to neural tube defects in the unborn child, including birth defects of the baby's brain, spine, or spinal cord.
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Why Blood Testing is Important for Neural Tube Defects
Blood tests are fundamental for evaluating nutritional status and genetic factors that can significantly influence the risk of neural tube defects. Testing can identify folate deficiency and genetic mutations that affect folate metabolism, both of which are key risk factors. This information is essential for prevention through proper supplementation and monitoring during pregnancy planning and early pregnancy.
Other Relevant Tests
Folate (Folic Acid)
This test measures serum folate levels, which are essential for proper neural tube development during early pregnancy. Low levels of folic acid in pregnant women can significantly increase the risk of neural tube defects, such as spina bifida, in their babies.
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Vitamin B12 and Folates
This comprehensive test evaluates both vitamin B12 and folate levels, as both nutrients work together in cellular processes. Low levels of folate in pregnant women can lead to neural tube defects in the baby, including spina bifida and anencephaly, making this combined assessment valuable for comprehensive risk evaluation.
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MTHFR Mutation(12) (QSC)
This genetic test identifies mutations in the MTHFR gene, which are associated with an increased risk of neural tube defects in newborns, including spina bifida and anencephaly. The mutation can affect the body's ability to metabolize folic acid, which is essential for proper neural tube development.
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Understanding Your Test Results
Test results help healthcare providers assess your risk factors and develop appropriate prevention strategies. Low folate levels can be addressed through dietary changes and supplementation, while genetic testing results can guide personalized recommendations for higher-dose folic acid supplementation during pregnancy planning and early pregnancy.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis, treatment, and personalized recommendations regarding neural tube defect prevention.
