Question 1

What is Neural Tube Defects?

Accepted Answer

Neural tube defects are serious birth defects affecting the brain, spine, or spinal cord that develop during the first month of pregnancy. They are caused by insufficient folate levels during early fetal development, often worsened by MTHFR gene mutations that impair folate metabolism. The Folate RBC test is the most important test for assessing long-term folate status and neural tube defect risk.

Question 2

What causes neural tube defects?

Accepted Answer

Neural tube defects are caused by insufficient folate (folic acid) levels during the critical first 28 days of pregnancy when the neural tube is forming. Folate deficiency prevents proper closure of the neural tube, leading to conditions like spina bifida and anencephaly. Other contributing factors include MTHFR gene mutations that impair the body's ability to process folic acid, certain anti-seizure medications, poorly controlled diabetes in pregnancy, and obesity.

Question 3

What is the best test for neural tube defects?

Accepted Answer

The Folate RBC test is the most important blood test for assessing neural tube defect risk because it measures folate stored in red blood cells over 2-3 months, providing an accurate picture of long-term folate status. For comprehensive risk assessment, the Vitamin B12 and Folates panel evaluates both nutrients that work together in cell division and DNA synthesis. Women with a family history of neural tube defects or previous affected pregnancies should also consider the MTHFR Mutation test, which identifies genetic variations that reduce the body's ability to metabolize folic acid by up to 70%, significantly increasing the need for higher-dose supplementation before and during pregnancy.

Question 4

When should I get tested for neural tube defects?

Accepted Answer

You should get tested if you are planning to become pregnant, especially at least 3 months before trying to conceive. Women who have had a previous pregnancy affected by neural tube defects, have a family history of spina bifida or anencephaly, take anti-seizure medications, or have diabetes should get tested before conception. Early testing allows time to correct folate deficiency and identify MTHFR mutations that require higher-dose folic acid supplementation, ideally starting 3 months before pregnancy.

Question 5

What are the symptoms of neural tube defects?

Accepted Answer

Neural tube defects are typically detected before birth through prenatal screening and ultrasound imaging, not through maternal symptoms. In babies born with spina bifida, symptoms can include an abnormal opening or sac on the back, weakness or paralysis of the legs, bowel and bladder control problems, and hydrocephalus (fluid buildup in the brain). Anencephaly, where large portions of the brain and skull are missing, is usually fatal within hours or days of birth. Less severe forms of spina bifida occulta may go unnoticed at birth and only cause mild symptoms like a dimple or birthmark on the lower back.

Question 6

Who is at risk for neural tube defects?

Accepted Answer

Women of childbearing age are at risk, particularly those with inadequate folate intake before and during early pregnancy. Hispanic women have the highest rates of neural tube defects in the United States. Risk increases significantly for women who have previously had a baby with a neural tube defect, those with MTHFR gene mutations, women taking certain medications like valproic acid or carbamazepine for seizures, those with poorly controlled diabetes or obesity, and women with malabsorption conditions like celiac disease. Family history of neural tube defects also increases risk substantially.

Question 7

What happens if neural tube defects are left untreated?

Accepted Answer

Without proper folate supplementation before and during early pregnancy, the risk of neural tube defects increases dramatically. Babies born with spina bifida face lifelong disabilities including paralysis, inability to walk, bowel and bladder dysfunction, repeated surgeries, and learning difficulties. Anencephaly is always fatal, with most babies dying within hours or days of birth. Early identification of folate deficiency or MTHFR mutations allows for preventive intervention with appropriate folic acid supplementation, reducing neural tube defect risk by up to 70%. Without this prevention, affected pregnancies may result in severe disability or pregnancy loss.

Question 8

Can neural tube defects be diagnosed with a blood test?

Accepted Answer

Blood tests cannot diagnose neural tube defects in a developing baby, but they play a crucial role in prevention and risk assessment. The Folate RBC test and Vitamin B12 tests identify nutritional deficiencies that increase neural tube defect risk, while the MTHFR genetic test detects mutations that impair folate metabolism. During pregnancy, maternal serum alpha-fetoprotein (AFP) screening can suggest increased risk, but definitive diagnosis requires ultrasound imaging and sometimes amniocentesis. Blood testing is most valuable before conception to identify and correct risk factors.

Question 9

How is neural tube defects treated?

Accepted Answer

Prevention through adequate folic acid supplementation is the primary treatment approach, with all women of childbearing age recommended to take 400-800 mcg of folic acid daily, starting at least one month before conception. Women at high risk due to previous affected pregnancies or MTHFR mutations need higher doses of 4,000 mcg daily under medical supervision. For babies born with spina bifida, treatment includes surgery within 24-48 hours after birth to close the opening, ongoing management of hydrocephalus with shunts, physical therapy, mobility aids, and treatment for bowel and bladder problems. Fetal surgery to repair spina bifida before birth is available at specialized centers and can improve outcomes.

Question 10

How can I prevent neural tube defects?

Accepted Answer

Take 400-800 mcg of folic acid daily starting at least 3 months before trying to conceive and continue through the first trimester. Eat folate-rich foods like leafy green vegetables, citrus fruits, beans, and fortified cereals and breads. If you have MTHFR mutations or previous affected pregnancies, work with your doctor to take higher doses of 4,000 mcg daily. Maintain good blood sugar control if you have diabetes, achieve a healthy weight before pregnancy, and avoid hot tubs and saunas during early pregnancy. Review all medications with your healthcare provider before conception to avoid drugs that interfere with folate metabolism.

Question 11

What natural support helps with neural tube defect prevention?

Accepted Answer

While folic acid supplementation is essential and cannot be replaced by diet alone, consuming naturally folate-rich foods provides additional support. Include dark leafy greens like spinach and kale, legumes such as lentils and black beans, asparagus, broccoli, citrus fruits, and avocados in your daily diet. Choose methylfolate supplements if you have MTHFR mutations, as this active form bypasses the metabolic block. Ensure adequate vitamin B12 intake through animal products or supplements, as B12 works synergistically with folate in cell division. Avoid alcohol consumption when planning pregnancy, as it interferes with folate absorption and metabolism.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

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Neural Tube Defects Blood Test

What is Neural Tube Defects?

What causes neural tube defects?

What is the best test for neural tube defects?

When should I get tested for neural tube defects?

References

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