Definition

Spina bifida is a congenital (birth) defect where there is abnormal formation of the spine and spinal cord. The neural tube is a structure in a developing embryo that eventually becomes the brain, spinal cord, and surrounding tissues. Normally, the neural tube forms and closes during early pregnancy, around the 28th day after conception. In babies with spina bifida, part of the neural tube does not close or develop properly, leading to defects in the spine, including nerves, skin, and bones.

In 2014, the Indonesian Ministry of Health conducted surveillance of congenital abnormalities in 13 hospitals across 9 provinces. This surveillance found that congenital central nervous system abnormalities, including spina bifida, accounted for 22% of all congenital abnormalities

Causes

The exact cause of spina bifida is not known. Genetic and environmental factors are believed to play a role in the development of the fetus, leading to spina bifida.

Risk Factor

Spina bifida occurs early in pregnancy. At this time, many women may not yet realize they are pregnant and therefore have not reduced exposure to the risk factors for spina bifida. It is important to know and avoid these factors, especially when planning a pregnancy.

• Folic acid deficiency. Folate is the natural form of vitamin B9 essential for fetal development. Folic acid is the synthetic form used in supplements. A deficiency in folic acid is a risk factor for spina bifida and other neural tube defects (NTDs).
• Family history of spina bifida. Couples who have had a child with spina bifida have a higher risk of having another child with spina bifida. Mothers with spina bifida have a higher risk of giving birth to a child with spina bifida. However, many babies with spina bifida are born to families with no history of the condition.
• Medications. Certain medications, such as anti-seizure drugs (e.g., valproic acid), can cause spina bifida if taken during pregnancy, as they interfere with the metabolism of folate and folic acid in the body.
• Diabetes. Women with diabetes whose blood sugar is not well controlled have a higher risk of giving birth to a child with spina bifida.
• Obesity. Obesity before pregnancy is associated with an increased risk of NTDs, including spina bifida.

If you have these risk factors, consult your obstetrician to increase your folic acid intake before pregnancy begins.

Symptoms

Spina bifida severity varies depending on size, location, and complications. Symptoms depend on the type of spina bifida. There are several types of spina bifida, including:

• Spina bifida occulta. Occulta (occulta) means hidden. This type is the mildest type of spina bifida. It appears as one or more small gaps in the spine. Many people with spina bifida occulta are unaware of their condition until it is discovered through specific examinations.
• Meningocele. Meningocele is a type of spina bifida that involves a sac on the baby's back. This sac only contains fluid and no spinal cord. Nerve damage is usually minimal or nonexistent.
• Myelomeningocele. The most severe form, in which the spinal canal is open along the spine. The membranes and spinal cord protrude at birth, forming a sac on the baby’s back, exposing tissues and nerves, leading to infections, paralysis, and digestive and urinary problems

Diagnosis

Several tests can screen for spina bifida in a baby:

• Blood tests. Maternal serum alpha-fetoprotein (MSAFP) and alpha-fetoprotein (AFP) levels can help diagnose spina bifida. AFP is a protein produced by the fetus that can pass into the mother's bloodstream. High AFP levels indicate a neural tube defect, including spina bifida, although not all cases present high AFP levels.
• Ultrasound. Ultrasound (USG) is a highly accurate method for diagnosing spina bifida and can be performed in the first trimester (11–14 weeks) and the second trimester (18–22 weeks).
• Amniocentesis. If ultrasound indicates spina bifida, amniocentesis can confirm the diagnosis. This involves taking a sample of amniotic fluid for genetic testing. Discuss the risks of this procedure with your obstetrician.

Management

Babies with spina bifida are typically born via cesarean section. This is because the baby with myelomeningocele is breech, making a cesarean section the safest option for delivery.

Myelomeningocele should be treated as soon as possible after birth to reduce the risk of nerve infection. Early surgery can also help to prevent further nerve trauma. The goal of this surgery is to replace the bone marrow and tissue with skin and muscle.

Ongoing Care

Children with spina bifida require specialized care and observation. Your doctor must assess growth, vaccinations, medical conditions, and potential complications. Children with spina bifida typically require care from a team of doctors, including:

• Rehabilitation medicine
• Neurology and neurosurgery
• Urology
• Orthopedics
• Occupational therapy

Complications

Complications of spina bifida include:

• Mobility disorder. Nerves controlling muscle movements may not function properly, leading to limited mobility or paralysis. Walking ability depends on the size and location of the defect and can be managed with exercises and assistive devices or wheelchairs.
• Orthopedic complication. Children with myelomeningocele may experience limb and spine issues due to weaker muscles, including:
• Scoliosis
• Abnormal growth
• Hip dislocation
• Bone deformities
• Muscle contractures
• Urinary problems. Nerves controlling the urinary system may be affected.
• Hydrocephalus. Accumulation of fluid in the brain, increasing head size.
• Infections. Meningitis, a potentially life-threatening infection of the membranes surrounding the brain and spinal cord, is a risk.

Prevention

If you are pregnant or planning to become pregnant, take the following steps to prevent spina bifida:

• Consume 400 mcg of folic acid daily. If you have had a pregnancy affected by spina bifida, you may need a higher dose before and during pregnancy. Discuss this with your obstetrician
• Eat folate-rich foods, such as pasta, rice, cereals, egg yolks, milk, avocados, and green vegetables (broccoli, spinach)
• Begin folic acid supplementation two months before conception if you are planning a pregnancy. Consult this with your obstetrician.
• Check with your doctor regarding the effects of current medications, supplements, and vitamins on fetal development
• Control medical conditions such as diabetes and obesity before you are pregnant
• Take fever reducers like acetaminophen if you develop a fever

When to See a Doctor?

Myelomeningocele is usually diagnosed before or after birth in a healthcare setting. Babies with spina bifida require lifelong medical care and monitoring by a multidisciplinary team. Children with spina bifida occulta often have no symptoms or complications.

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