In this article, we will first provide a general overview of Spina Bifida, followed by a discussion on issues concerning Pediatric Surgery Specialists, including problems and treatments related to the urinary bladder (bladder, ureters), kidneys, intestines, as well as urinary and fecal incontinence.

What is Spina Bifida?

The bones forming the spine are normally shaped like a ring and completely surround the spinal cord. However, in Spina Bifida, the continuity of these bones is disrupted, meaning they do not fully cover the spinal cord, leaving the spinal cord and associated nerves exposed. The term "Spina Bifida" comes from Latin and means "split" or "open" spine.

In Spina Bifida, the spinal cord and nerves protrude through the open bones and appear as a bulge on the baby's back. This condition leads to nerve damage, which can result in various clinical issues such as partial paralysis in the child, difficulty walking, hydrocephalus, bowel and bladder problems, and potential development of scoliosis later in life.

How Common is Spina Bifida?

Studies indicate that in Turkey, 1.5 to 4 out of every 1,000 live births are affected by Spina Bifida.

When Does Spina Bifida Develop?

A fetus’s organs develop in the first three months of pregnancy. Spina Bifida arises during this period, typically within the first month of pregnancy. Therefore, it is a congenital condition (present at birth).

Although similar symptoms may occur in spinal cord injuries from accidents, the two are not entirely the same, since in those cases the muscles and organs have fully developed prior to the injury.

What Causes Spina Bifida?

The exact cause of Spina Bifida is not known. While there are some theories and proposed risk factors, the precise cause remains unclear.

However, several risk factors for Spina Bifida are known:

• It is more common in white babies.
• It occurs more frequently in girls than boys.
• Folate deficiency: A deficiency in folate or vitamin B9 can lead to a vitamin B12 deficiency, which is important for the production of blood cells. Folate deficiency is known to increase the risk of Spina Bifida and other neural tube defects. Hence, folic acid supplementation is recommended during pregnancy.
• Family history of neural tube defects: Families with one child affected by Spina Bifida have a higher chance of having another child with the condition, though most affected individuals have no family history.
• Certain medications: Drugs like valproic acid, used to treat epilepsy, can cause folic acid deficiency if taken during pregnancy, increasing the risk of Spina Bifida.
• Uncontrolled diabetes in the mother also increases the risk.
• Obesity (being overweight).
• Elevated body temperature in the early weeks of pregnancy.

How Much Folic Acid is Needed During Pregnancy?

The daily requirement during pregnancy is 400–600 mcg. It is often not possible to get this amount from food alone, so supplementation is necessary. However, folic acid should always be taken under medical supervision.

When Should Folic Acid Supplementation Start?

Starting the supplement does not immediately meet the body’s needs; it takes time. Since organ formation occurs during the first three months of pregnancy, folic acid intake should begin before conception, in accordance with a doctor's recommendations.

Does Folic Acid Have Any Side Effects?

In rare cases, high doses of folic acid may cause side effects. For instance, it may increase the excretion of certain minerals—especially zinc—leading to mineral deficiencies.

Which Foods Should Be Consumed to Obtain Folic Acid Naturally?

It should be noted that folic acid intake from natural foods during pregnancy is usually not sufficient, and therefore supplementation is necessary. However, when aiming to obtain folic acid naturally, the following foods should be consumed in particular:

Foods Rich in Folic Acid:

• Whole grain products
• Legumes
• Meat and dairy products
• Eggs
• Leafy green vegetables
• Asparagus
• Broccoli
• Tomatoes
• Citrus fruits

Are There Different Types of Spina Bifida?

Yes, there are. There are three main types: spina bifida occulta, meningocele, and myelomeningocele

Spina Bifida Occulta:

This is the most common and mildest form of the condition. Occulta means "hidden." In this type, there is a small separation in the spinal bones, but because there is usually no nerve damage, it typically does not produce clinical symptoms and is often discovered incidentally during investigations for other reasons.

Rarely, the spinal cord may become compressed and stretched, a condition known as tethered cord syndrome. This can affect the nervous system, leading to weakness in leg movements and urinary incontinence. It should be considered in patients with persistent urinary tract infections and incontinence issues that have not been treated successfully. In such cases, necessary evaluations may include ultrasonography, urinalysis, urodynamics, and magnetic resonance imaging (MRI) of the spinal cord. Your physician will decide which tests are appropriate.

Meningocele:

This is the rarest form of spina bifida. In this type, the protective membrane covering the spinal cord (called the meninges) protrudes through the opening in the spine. Externally, it appears as a fluid-filled sac. Since there are no nerves within the sac, neurological symptoms are generally mild. While some infants may not exhibit any problems, others may experience bladder and bowel issues. Hydrocephalus (accumulation of fluid in the brain) may occur very rarely.

Myelomeningocele:

This is the most severe and common form of spina bifida. It is the most serious type of the condition. In this form, the opening contains not only the sac but also nerves, leading to significant neurological problems. It can cause motor and spinal cord dysfunction, partial paralysis, loss of sensation in the legs, difficulty walking, hydrocephalus, urinary and fecal incontinence, advanced kidney failure, and scoliosis. Symptoms vary depending on which nerves are affected.

Who Can Have a Child with Spina Bifida? Is It Hereditary?

Any couple can have a child born with spina bifida. Worldwide, there are about 10 million people with spina bifida. In developed countries, 1 in every 1,000 children is born with spina bifida. In studies conducted in Turkey, this rate ranges between 1.5 to 4 per 1,000 live births.

Spina bifida is not a hereditary disease, but it does show familial predisposition.

What Are the Clinical Symptoms of Spina Bifida?

Symptoms vary depending on the level of the defect (e.g., lumbar lesions typically present more severely than sacral lesions) and the type of spina bifida.

Clinical Symptoms of Spina Bifida Occulta:

Since the nerves are usually unaffected in this form, it generally does not produce clinical symptoms. However, occasionally, changes in skin color resembling birthmarks or increased hair growth over the defect area may be noticeable. Musculoskeletal findings are typically absent, but urinary and bowel issues can arise, leading to recurrent urinary tract infections and constipation. The patient may receive treatment due to frequent urinary tract infections. In later childhood, they may visit a doctor with complaints of urinary or fecal incontinence.

Meningocele and Myelomeningocele:

In these two severe forms of Spina Bifida, the spinal canal remains open over several vertebrae in the lower or middle back. In later life, serious symptoms such as walking difficulties, deformities in the legs, bladder control problems, and bowel issues may develop.

How Is Spina Bifida Diagnosed?

Typically, meningoceles and myelomeningoceles are diagnosed prenatally. The spinal opening can be detected by ultrasound, and elevated levels of Alpha-Fetoprotein (AFP) may also indicate the condition.

If the diagnosis is not made prenatally, meningocele and myelomeningocele can be easily identified through physical examination after birth. Spina Bifida Occulta, on the other hand, is usually diagnosed incidentally during investigations for other conditions, since it often does not show symptoms.

Which Physicians Should Monitor and Treat Children with Spina Bifida?

The follow-up and treatment of these babies begin in the womb and may continue for life, affecting many systems in the body. Therefore, their care must be managed by a multidisciplinary team, which should include specialists in Obstetrics and Gynecology, Neurosurgery, Pediatric Surgery, Neonatology, Physical Therapy, Orthopedics, Pediatric Gastroenterology, Pediatric Neurology, Pediatric Nephrology, and Pediatric Radiology. These experts will contribute to different stages of the child’s life.

How Is Spina Bifida Monitored and Treated?

1. In-Utero Treatment:

Some babies can undergo surgery while still in the womb, which is referred to as fetal surgery. This stage of treatment is typically performed by specialists in Obstetrics and Neurosurgery with expertise in the field.

How Is Fetal Surgery Performed?

Here is a brief description; for detailed information, including benefits, risks, and complications, please consult your doctor face-to-face.

Fetal surgery can be performed in three main ways:

• Fetoscopic (Minimally Invasive) Surgery: Performed using a laparoscopic (closed) method.
• Semi-Open Surgery: The mother's abdominal wall is opened as in traditional surgery and the uterus is brought outside. The next steps are performed fetoscopically without making an incision in the uterus. This is the most commonly performed method for spina bifida.
• Open Surgery: The mother’s abdominal wall and the uterus are opened, and surgery is performed directly on the fetus. This is also commonly used for treating spina bifida.

2. How Is Surgery Performed After Birth?

Postnatal surgery is performed by pediatric neurosurgeons. Studies have shown that surgery performed within the first 36 hours after birth yields better outcomes. The operation is conducted by neurosurgeons specialized in pediatric cases and requires significant support from pediatric surgery, neonatal intensive care, and pediatric nephrology teams.

Follow-Up for Patients with Spina Bifida:

Children diagnosed with spina bifida are monitored and treated under a plan prepared by a specialized team based on their needs and challenges. As the child grows, new evaluations are made according to the changes in their condition. Different treatment options are available for the various issues spina bifida may cause.

1. Kidney, Bladder, and Bowel Problems:

These issues are primarily managed by Pediatric Surgery, Pediatric Urology, Pediatric Nephrology, and Pediatric Gastroenterology specialists. Children should be regularly examined by the appropriate specialists based on their needs.

How Does Spina Bifida Affect the Bladder and How Is It Treated

Children born with spina bifida (especially the severe forms) almost always have neurogenic bladder. This occurs because the nerves in the spinal cord that control the bladder do not form properly, leading to problems storing or emptying urine—or both. Sometimes, bladder pressure is abnormally high.

Almost all children with spina bifida require lifelong clean intermittent catheterization (CIC) to protect their kidneys and prevent urinary tract infections.

!! For detailed information about CIC, see our article titled "Neurogenic Bladder and CIC."

In patients where CIC fails or cannot be performed, pelvic floor exercises and Botox treatment may be beneficial. Sometimes these treatments are used in combination.

!!! For more information, see our article titled "Pelvic Floor Exercises."

For patients with small bladder volume where the above treatments are not applicable or have failed, augmentation (ileocystoplasty) and Mitrofanoff surgeries may be considered to preserve kidney function and prevent urinary incontinence.

!!! For more details, refer to our article on "Neurogenic Bladder, Augmentation (Ileocystoplasty), and Mitrofanoff."

Does Spina Bifida Affect My Child’s Bowels?

Most children born with spina bifida are at risk for constipation because the nerves that control bowel function often do not develop properly. Until solid foods are introduced, issues may not be apparent. In these patients, constipation is almost inevitable. If not treated correctly, fecal incontinence can become an unavoidable consequence. Sometimes, even without constipation, fecal incontinence may occur due to nerve and muscle dysfunction in the anal sphincter.

!! For more information, see our article titled "Constipation and Fecal Incontinence."

How Are Kidney, Bladder, and Bowel Issues Monitored?

Patients are seen at intervals recommended by their doctor. In addition to clinical evaluations, blood and urine tests, ultrasonography, and urodynamic studies are conducted. If needed, renal scintigraphy may be used to evaluate kidney function, and voiding cystourethrography may be used to assess for vesicoureteral reflux. Anal sphincter function may be evaluated using tests such as EMG.

Do Children with Spina Bifida Have Cognitive or Learning Problems?

Generally, the brain is not affected, so cognitive or learning issues are not expected. However, if these children do not receive proper care, follow-up, and treatment, they may develop serious psychological and social problems.

Can This Disease Be Prevented?

At present, it cannot be completely eliminated. However, recent studies show that taking folic acid supplements before pregnancy can significantly reduce the risk of this condition.

*** The information provided here is intended to inform visitors, especially families, via this website. No information should be interpreted as a recommendation or used as the basis for any decision or action. Families should always consult a pediatric surgery specialist and seek direct guidance based on a personal consultation.