Spina Bifida

What is Spina Bifida?

Spina bifida is a type of birth defect that happens when the embryo’s spine and spinal cord do not close all the way during fetal development. In early pregnancy, a structure called the neural tube forms, later becoming the baby’s brain, spinal cord, and surrounding tissues. Normally, the neural tube closes by the 28^th day of pregnancy.

However, in babies with spina bifida, when the vertebrae (spine bones) form in that area, they don’t completely enclose the spinal cord and nerves, leaving an opening. Spina bifida can expose part of the spinal cord and nerves to amniotic fluid, which surrounds the baby in the uterus. The fluid can damage the spinal cord and nerves.

Spina bifida can cause varying degrees of physical and learning disabilities and other health conditions, depending on the location and severity of the defect along the spine. Early prenatal screening and diagnosis can lead to better management strategies, improving outcomes for affected individuals.

Types of Spina Bifida

Myelomeningocele

Myelomeningocele is the most severe form of spina bifida. Babies born with myelomeningocele have a spinal cord that doesn't form properly, which results in a part of the underdeveloped cord to stick out through the back. This exposed cord is not typically covered by skin, leaving nerves and tissues vulnerable. Myelomeningocele can cause moderate to severe symptoms ranging from bladder and bowel incontinence (loss of control) to leg paralysis.

Meningocele

Another type of spina bifida is meningocele. It involves a sac of cerebral spinal fluid that sticks out through the spinal opening. A layer of skin may or may not cover the sac. The spinal cord and nerves are not in the sac, resulting in little to no nerve damage. People with meningocele usually experience minor disabilities and symptoms, such as incontinence, back pain, or leg weakness.

Occulta

In this mildest and most common type of spina bifida, one or more vertebrae don’t form properly, leaving a small opening. A layer of skin covers the opening, and no opening or sac comes through. “Occulta” means hidden because there is no visible opening on the back. Because spina bifida occulta rarely causes symptoms, many do not even know they have it. This type typically does not require treatment or limit a child’s activity.

Causes and Risk Factors of Spina Bifida

Spina bifida is more prevalent among Hispanic and White individuals, and it affects females more than males. The exact causes of spina bifida are unknown, but certain genetic and environmental factors can increase the risk of having a baby with spina bifida. Risk factors include:

Folic Acid Deficiency: Folic acid, also called folate or vitamin B9, is important to your baby’s brain and spinal cord development. Women with folic acid deficiency have a higher risk of having a baby with spina bifida or other neural tube defects. Doctors recommend that all women take a multivitamin with folic acid before becoming pregnant.
Family History of Neural Tube Defects: People who have had one or more children with a neural tube defect have a slightly greater chance of having another baby with the same defect. People who were born with a neural tube defect have a greater chance of having a child with spina bifida. For women who have had a child with spina bifida, doctors recommend taking a higher dose of folic acid before becoming pregnant again.
Certain Medications: Taking anti-seizure medications, such as valproic acid (Depakene), during pregnancy may increase the risk of having a baby with a neural tube defect.
Diabetes: Women who have diabetes with poorly controlled blood sugar have a higher risk of having a baby with spina bifida.
Obesity: Pre-pregnancy obesity may increase the risk of neural tube birth defects, such as spina bifida.
Increased Body Temperature: Elevating your core body temperature, due to fever or use of a sauna or hot tub, may increase the risk of having a baby with spina bifida.

Signs and Symptoms of Spina Bifida

During pregnancy, women don’t experience signs or symptoms of spina bifida. With a blood test and prenatal ultrasound, doctors can detect signs in a fetus. Signs and symptoms of spina bifida vary depending on the type and severity. Blood tests may indicate a higher-than-normal level of alpha-fetoprotein in the mother’s blood.

Signs that doctors may detect during prenatal ultrasounds include:

A fluid-filled sac coming out of the mid or lower back
An opening along one or more vertebrae

If signs and symptoms appear at birth or later in life, they may include:

Babies with a tuft of hair, birthmark, or dimple on the skin over the opening
Issues with bowel and bladder function, such as infections, incontinence, or constipation

Complications of Spina Bifida

Spina bifida can cause certain complications, such as:

Chiari malformation type 2, in which part of the brain shifts into the spinal canal
Hydrocephalus, a buildup of fluid in the brain
Tethered cord syndrome, an abnormal attachment of the spinal cord to the wall of the spinal canal, preventing it from moving and growing with the child
Learning disabilities that affect attention, memory, problem-solving, and organization
Loss of sensation (feeling) in areas below the spinal opening, which may result in skin breakdown due to pressure, moisture or injury
Orthopedic (bone, joint, and muscle) conditions in the back and legs, such as scoliosis (curvature of the spine), muscle weakness, leg paralysis, coordination issues, and bone and joint issues
Club foot deformities
Bowel and bladder incontinence
Sleep apnea
Obesity

Complications for spina bifida in adults can include a continuation of the above-mentioned, plus:

Conditions resulting from obesity including high blood pressure, heart disease or diabetes
Impaired male fertility
Renal/kidney disease

Diagnoses and Tests for Spina Bifida

Doctors usually diagnose myelomeningocele and meningocele before birth, although spina bifida occulta often goes unnoticed until after birth or later. Prenatal screening and diagnostic tests for spina bifida include:

Maternal Serum Alpha-Fetoprotein (MSAFP) Screening: During pregnancy, women can have an MSAFP screening, a blood test that can detect signs of neural tube defects.
Prenatal Ultrasound: High-frequency sound waves produce images of soft tissues and other structures inside the body. If doctors see signs of spina bifida during routine prenatal ultrasounds, you may have more targeted ultrasounds, including:
- Targeted, High-resolution Ultrasound to more closely examine your baby’s spine
- Fetal Echocardiogram to check your baby’s heart for signs of structural conditions
Ultra-fast Fetal MRI: A computer and powerful magnetic fields create detailed images of the inside of the body. Ultra-fast fetal MRI quickly takes images to produce sharp pictures of a moving fetus.
Amniocentesis: Doctors use a needle to take a small sample of amniotic fluid to test for signs of neural tube defects.

If doctors diagnose spina bifida before birth, your baby will have other imaging tests before prenatal surgery or delivery. With these scans, doctors determine the severity of the condition and check for complications, such as hydrocephalus and Chiari malformation type 2. Imaging studies may include:

Computed Tomography (CT) Scan: Special X-ray equipment and powerful computers create detailed images of the inside of your baby’s body. Doctors use CT scans to see your baby’s spinal cord and vertebrae to check for complications.
MRI: Doctors also use MRI scans to evaluate your baby’s spinal cord and vertebrae and check for hydrocephalus and Chiari malformation type 2.
Ultrasound: Doctors use this imaging to find and evaluate spina bifida. Ultrasound can also show signs of hydrocephalus and Chiari malformation type 2.
X-rays: This imaging uses small doses of radiation to create images of the inside of the body. X-rays can show the details of spina bifida.

Treatment for Spina Bifida

Spina bifida occulta typically requires no treatment. For myelomeningocele and more severe cases of meningocele, your baby will need surgery before or after birth. Treating these conditions before birth helps prevent further spinal cord and nerve damage and reduces the risk of complications, such as hydrocephalus.

Because of risks, such as premature delivery, not everyone is a candidate for prenatal surgery. In those cases, surgery soon after birth is needed to close the defect and minimize spinal cord and nerve damage.

Surgery for myelomeningocele involves removing the exposed sac, moving the spinal cord and nerves back into the spinal column, and closing the opening in the spine. Surgical options include:

Open Fetal Surgery: Using ultrasound guidance, surgeons make long incisions in the abdomen (belly) and uterus to access the baby for repair.
Fetoscopic Repair: In this minimally invasive procedure, surgeons make a few small incisions and use ultrasound to place ports through the abdomen and uterus. Surgeons insert a fetoscope (narrow, flexible tube with a camera and light) and miniaturized instruments through the ports to make the repair.
Hybrid Open/Fetoscopic Repair: Surgeons make a long incision in the abdomen and temporarily remove the uterus. They use ultrasound to place two to three ports through the uterus and use the fetoscope and miniaturized instruments to repair the myelomeningocele. The surgeons place the uterus back inside the abdomen and close the long incision.
Spina Bifida Surgery After Birth: If the baby has not had prenatal surgery, after delivery the baby will have surgery within the first 24 to 48 hours to repair the myelomeningocele. The surgeon will remove the myelomeningocele sac (if present) and then close the tissue and skin around the defect to safeguard the spinal cord.

Post-surgery, the baby will be cared for in our Newborn and Infant Critical Care Unit (NICCU).

Learn more about our criteria for fetal surgery to find out when fetal surgery for myelomeningocele may be an option.

Spina Bifida Care at Children’s Hospital Los Angeles

Children’s Hospital Los Angeles (CHLA) provides comprehensive, long-term care for children with spina bifida including myelomeningocele, from the initial repair through their adolescent years. Through our Spina Bifida Program, families benefit from advanced prenatal care offered by our Fetal Maternal Center, where early diagnosis, prenatal counseling, and specialized treatment options are available to support the health of both mother and child. Once the child comes to the clinic, they are seen by a comprehensive team of specialists including pediatricians, urologists, orthopedists, neurosurgeons, gastroenterologists, dieticians, social workers, nurses, physical and occupational therapists and bracing specialists. All specialties needed by a child with spina bifida are available at CHLA.

Our commitment to research and innovation ensures access to the latest treatments, as we collaborate with top institutions and participate in groundbreaking studies. As a nationally recognized Spina Bifida Association Clinic Care Partner, our program meets the highest standards of specialized care, giving your child the best chance for a healthy, fulfilling life.

Read more about the care and treatment options we offer with our Spina Bifida Program.

FAQs

What medical conditions are associated with spina bifida in children?

Children with spina bifida often deal with a range of medical issues that need specialized attention. One of the most prevalent conditions in children with myelomeningocele is hydrocephalus, which is the accumulation of fluid in the brain and can affect cognitive development if not managed properly. They may also face orthopedic challenges, such as muscle weakness or joint deformities, which can hinder mobility and require braces, crutches, or wheelchairs. Bladder problems are common due to nerve damage, resulting in difficulties with bladder control that often require ongoing management. In addition to physical obstacles, children with spina bifida may face mental health issues, such as anxiety or low self-esteem, as they navigate their medical condition and social situations. Multidisciplinary care is important in meeting the physical and emotional needs of these children.

Does spina bifida cause paralysis?

Spina bifida can cause paralysis, particularly in its more severe form known as myelomeningocele, where the spinal cord and nerves are exposed or undeveloped and can result in partial or complete paralysis of the lower body. The extent of paralysis depends on the location and severity of the spinal lesion.

Children with higher spinal lesions on the back may face more extensive paralysis, impacting both their mobility and bladder or bowel control, while those with lower lesions might still have some movement and sensation. Early intervention, such as surgery and therapy, can enhance outcomes, but the level of paralysis is usually permanent.