Neural tube defects in fetus

Neural tube defects are serious birth defects that affect the brain, spine, or spinal cord of a developing baby. These defects happen very early in pregnancy, usually within the first 28 days after conception. The neural tube is the structure in an embryo that eventually becomes the baby's brain and spinal cord. When this tube doesn't close properly, a neural tube defect occurs.

The two most common types are spina bifida and anencephaly. Spina bifida happens when the spinal column doesn't close completely. This can cause nerve damage and varying degrees of paralysis in the lower body. Anencephaly is a more severe condition where major parts of the brain and skull don't develop. Babies with anencephaly are usually stillborn or die shortly after birth.

Most neural tube defects can be prevented with proper nutrition before and during early pregnancy. Getting enough folate, also called folic acid or vitamin B9, is the most important factor. When women have adequate folate levels before conception, the risk of neural tube defects drops by up to 70 percent. This is why testing folate levels and taking supplements is so important for women planning to become pregnant.

• Visible opening in the spine at birth, often with exposed nerves
• Partial or complete paralysis of the legs
• Loss of bowel or bladder control
• Fluid buildup in the brain, called hydrocephalus
• Learning disabilities or developmental delays
• Missing portions of the brain or skull
• Abnormal curvature of the spine
• Weakness or lack of movement in lower limbs

Neural tube defects are present at birth and are usually detected during pregnancy through ultrasound or maternal blood screening. Some milder forms of spina bifida may not be noticed until later in childhood. In cases of anencephaly, the defect is severe and incompatible with life.

Neural tube defects occur when the neural tube fails to close properly during the first month of pregnancy. The exact cause isn't always clear, but low folate levels are the biggest known risk factor. Folate is essential for DNA synthesis and cell division, which happen rapidly in early pregnancy. Without enough folate, the cells that form the neural tube may not develop correctly. Other risk factors include a family history of neural tube defects, certain medications like anti-seizure drugs, poorly controlled diabetes in the mother, and obesity.

Some women have genetic variations that affect how their bodies process folate, putting them at higher risk. Having a previous pregnancy affected by a neural tube defect increases the risk in future pregnancies by about 3 to 4 percent. Environmental factors like extreme heat exposure in early pregnancy and certain infections may also play a role. The good news is that up to 70 percent of neural tube defects can be prevented by ensuring adequate folate intake before conception and during early pregnancy.

Neural tube defects are typically diagnosed during pregnancy through ultrasound imaging and maternal blood tests. An ultrasound performed between 18 and 22 weeks of pregnancy can usually detect major neural tube defects. Maternal blood screening tests measure levels of alpha-fetoprotein, a protein produced by the fetus. Elevated levels may indicate a neural tube defect. Amniocentesis, where a small sample of amniotic fluid is tested, can provide more definitive diagnosis.

Prevention starts before pregnancy by checking folate levels through blood testing. Rite Aid offers folate and red blood cell testing as part of our add-on panel. This helps identify women who may need supplementation before trying to conceive. Women planning pregnancy should have their folate levels checked at least three months before conception. If levels are low, supplementation can bring them into the protective range. Testing at our network of Quest Diagnostics locations makes it easy to know your folate status.

• Folic acid supplementation of 400 to 800 micrograms daily for all women of childbearing age
• Higher doses of 4 milligrams daily for women with previous affected pregnancies
• Eating folate-rich foods like leafy greens, beans, citrus fruits, and fortified grains
• Surgery to repair spina bifida, sometimes performed before birth or shortly after
• Physical therapy and mobility aids for children with spina bifida
• Treatment for hydrocephalus with a surgical shunt to drain excess fluid
• Occupational therapy to help with daily activities and independence
• Regular monitoring by specialists including neurologists and orthopedic surgeons
• Bladder and bowel management programs
• Educational support and developmental services as needed