Spina Bifida

Spina bifida is a congenital condition, meaning it’s present at birth. It is a type of neural tube defect where the structure that forms the spinal cord doesn’t close completely during fetal development, which may affect how the spinal cord forms and functions.

Spina bifida comes in several forms, which can be categorized into two main types: open and closed. Open and closed spina bifida differ in how they appear, how they are diagnosed, and how they are treated. Knowing the difference helps doctors give the right care and support.

Open spina bifida

Open spina bifida occurs in 1 out of every 2,875 births and results in part of the spine being exposed because it isn’t covered by skin. There are two main types of open spina bifida: myelomeningocele and meningocele. Both can be detected on the back at birth or during a prenatal ultrasound, but they differ in how serious they are and what complications they might cause.

• Meningocele: The rarest type of spina bifida. Meningocele occurs when the protective membranes around the spinal cord protrude through an opening in the spine, forming a sac. In most cases, there is no nerve damage. Some children may have only mild symptoms, while others may experience challenges with walking, as well as bladder or bowel function. 
• Myelomeningocele: The most severe form of spina bifida. Myelomeningocele occurs when the backbone and spinal cord both do not close properly, resulting in abnormal development of the spinal cord. Children with this type of spina bifida often have a build-up of fluid in the brain called hydrocephalus, difficulties with leg strength and movement, and bladder and bowel control. Some children also have learning disabilities and impaired cognitive development.

Closed spina bifida

Closed spina bifida is covered by skin, which makes it harder to detect. It’s often discovered later in childhood or even adulthood, sometimes by chance during imaging for another reason. Some individuals have no symptoms, while others may experience:

• Back pain
• Leg weakness or numbness
• Bladder or bowel issues (often due to a tethered spinal cord)

Spina bifida occulta (hidden)

The most common form of spina bifida, occurring in 10 to 20 percent of the population in the U.S., spina bifida occulta occurs when spinal bones don’t form properly during fetal development. It usually doesn’t cause symptoms or problems, and many people may never be aware that they have it. Spina bifida occulta does not require comprehensive care in our center.

Tethered spinal cord

The spinal cord is abnormally attached to the surrounding tissue and cannot move freely. This can stretch and damage the spinal cord as a child grows and may lead to leg weakness, back pain, and problems with bowel or bladder control. Tethering can occur before or after birth and often requires surgery.

• A clump of hair, a dimple, or a birthmark on the spine
• Chronic constipation or bowel incontinence
• Urinary incontinence or urinary tract infections
• Leg weakness
• Leg or back pain
• Scoliosis

Some signs of spina bifida may also be noticeable at birth or in utero; these include an opening in the lower back that isn’t covered with skin or a sac protruding from the lower back. At Boston Children’s, we specialize in prenatal diagnosis and treatment, allowing us to detect spina bifida as early as possible and tailor our treatment approach for the best possible outcomes.

The cause of spina bifida is often unknown, though research is exploring genetic, nutritional, and environmental factors.

Research indicates that a critical factor in spina bifida may be a lack of folic acid, a common B vitamin, in a pregnant person’s diet. The defect that causes spina bifida starts within the first 28 days of pregnancy, often before someone knows they’re pregnant. This is one reason why a daily multivitamin containing folic acid is recommended for all individuals of childbearing age who are able to become pregnant. People at higher risk of spina bifida who plan to become pregnant are advised to take a 4mg dose of folic acid two to three months before conception and throughout the first trimester of pregnancy. This includes people who have previously had a child with spina bifida, those with spina bifida themselves, and those with a sibling who has spina bifida.

More than 90 percent of spina bifida cases occur without a family history. However, if one parent has spina bifida, there’s a 3 to 5 percent chance of passing spina bifida to your child. Similarly, if you have a child with spina bifida, there’s a 3 to 5 percent chance that subsequent children will have the same condition. Taking the additional folic acid can reduce this risk of recurrence.

Complications of spina bifida vary widely, depending on the type and its severity. They include:

• Bladder or bowel problems
• Chiari malformation (type II)
• Hydrocephalus
• Impaired cognitive development and learning disabilities
• Kidney infections or kidney damage
• Orthopedic problems such as scoliosis, kyphosis, hip dislocation, joint deformities, and clubfoot
• Weakness in the legs or feet, back pain, or leg pain
• Tethered spinal cord

Many neural tube defects, including spina bifida, can be detected before birth with prenatal ultrasound. Further ultrasounds or MRIs are done to confirm and better understand the severity of the spina bifida. Alpha-fetoprotein (AFP) is a protein made by the fetus during pregnancy. It can be measured in the pregnant person’s blood around 16-18 weeks to screen for conditions like spina bifida. If the AFP level is higher than normal, it may suggest a spine problem, and doctors may recommend further tests. One option is amniocentesis, where a small sample of fluid is taken from around the fetus to measure AFP and other markers more accurately. These tests help check for spina bifida or a related condition.

After birth, spina bifida may be detected during a physical exam or using a spinal ultrasound or MRI. Once spina bifida is diagnosed, your child’s care team will run additional tests. These tests may include, X-rays, blood work, ultrasounds, or bladder testing known as urodynamics testing.

The traditional approach to treatment for infants with spina bifida is surgery to repair the defect within a few days after birth. However, advances in care have allowed fetal surgeons to perform some neural tube defect repairs in utero (in the womb), allowing for earlier intervention that can reduce the progression of the condition prior to birth, potentially decreasing the severity of the spina bifida. Prenatal surgery has been shown to reduce the chance of hydrocephalus and the need for shunting. In certain instances, these interventions can also improve motor function and neurological outcomes by preventing damage to an exposed spinal cord or brain tissue.

Our fetal surgeons offer several approaches to the prenatal repair of open spina bifida. After thorough consultation and evaluation, each patient receives a treatment plan carefully tailored to the option that best fits their individual needs.

After initial surgical repair, children with spina bifida continue to follow up with the medical team throughout childhood. Treatment plans depend on the type of spina bifida your child has and their specific symptoms. In general, children with more severe forms of spina bifida need more treatment than those with less severe types.

Possible additional treatments a child may need include:

• Physical therapy (PT) or occupational therapy (OT) 
• Bowel management
• Bladder management, including medications and clean intermittent catheterization
• Bowel surgery
• Reconstructive bladder surgery
• Bracing or orthopedic surgery
• ETV/CPC procedure or shunting for hydrocephalus
• Individualized Education Programs (IEPs) to address learning needs
• Spine surgery for scoliosis
• Surgery for a tethered spinal cord

At Boston Children’s Hospital, our collaborative approach to caring for spina bifida can start even before your child is born. Our specialists work together to identify signs of spina bifida early and develop a personalized care plan. When appropriate, this may include fetal surgery through our Fetal Care and Surgery Center. After delivery, our Spina Bifida and Congenital Spinal Anomalies Center provides comprehensive care that’s personalized to each stage of your child’s development. We coordinate testing and consultations so your child can see multiple providers during the same visit. Our team includes specialists in:

• Complex Care
• Endocrinology
• Gastroenterology
• Nephrology
• Neuropsychology
• Neurosurgery
• Nutrition
• Orthopedics
• Physical Therapy
• Urology
• Social Work

We are also the only spina bifida center in New England offering a comprehensive transition-of-care program for young adults, ensuring seamless continuity of care as your child grows.

The Spina Bifida and Congenital Spinal Anomalies Center has pioneered several innovative surgeries for children with spina bifida, including ETV/CPC, spinal cord detethering, and robotic urologic reconstructive surgeries. Our Department of Urology is researching ways to diagnose spina bifida earlier, developing therapies to slow bladder deterioration, and identifying early signs of kidney and bladder issues.

Our Urodynamics Program — one of the first to focus specifically on pediatric care — utilizes advanced technology to gain a detailed understanding of bladder and nerve function and develop personalized treatment plans for each patient.