Fetal Spina Bifida

Spina bifida is a neural tube defect that occurs during the first month of pregnancy when the spinal cord does not develop or close properly. This defect can be so mild that some people do not even know they have it. In its most severe form, the defect leaves a section of the spinal cord and nerves exposed in a sac on the patient’s back.

Spina bifida can lead to many physical disabilities, including problems with walking and mobility, bowel and bladder function, wounds healing and fluid accumulating in the brain (hydrocephalus) requiring shunt surgery.

Spina bifida occurs in approximately four out of every 10,000 live births in the United States. About 166,000 people in the U.S. live with this birth defect.

The three most common types of spina bifida include:

• Myelomeningocele is the most common and severe form of spina bifida. This birth defect means that the spinal canal is open along a portion of the middle or lower back. In that area, the spinal cord and nerves push through the baby’s back, forming a sac on the outside of the body that can make the baby prone to life-threatening infections.
• Meningocele is a less severe form of spina bifida that is similar to myelomeningocele but the sac is filled with fluid rather than the spinal cord.
• Spina Bifida Occulta is the separation between one or more bones of the back called vertebrae. Because the nerves are not involved in this birth defect, there are few, if any, signs or symptoms. Most people with this form of spina bifida are unaware they have it. As such, this type of spina bifida typically is diagnosed later in life and not in utero.

Yes, babies also may experience less common types of spina bifida or complications that are associated with the condition. They include:

• Caudal regression syndrome is a birth defect in which a bone or bones are missing in the lower back or pelvis. As a result, other bones can fuse together during development, causing complications with the bladder and bowels.
• Chairi II malformation occurs when brain tissue extends into a baby’s spinal canal. This condition usually is the result of a misshapen skull that presses the brain downward. Chairi malformations are rare and are classified in three categories. Chiari malformation type II typically is associated with myelomeningocele. Some people experience serious complications from this condition, and others can have no symptoms, depending on the severity.
• Closed neural tube defects (NTDs) are malformations of fat, bone or meninges along the spine. NTDs occur in about 20 percent of spina bifida cases and are the result of a defect in secondary neurulation, which is the stage of development when a baby’s neural tube forms. The defect is covered and tissue is not exposed. 
• Clubfoot is the term used to describe conditions that cause a baby’s foot to be turned out of its normal position at birth. Clubfoot can be mild or severe, but it typically makes it difficult to walk normally so treatment is recommended soon after delivery. Clubfoot can be associated with other abnormalities of the skeleton, including spina bifida.
• Diastematomyelia is a type of malformation where the spinal cord is divided lengthwise into two cords, usually in the upper back. This typically occurs when a piece of bone or cartilage invades the spinal cord space. Abnormal development of the vertebrae also is common with diastematomyelia. If the split cord does not reunite below the spur, it is called diplomyelia.
• Hydrocephalus is a condition where cerebrospinal fluid builds up in the brain and causes pressure that can damage the brain. Although hydrocephalus can occur at any age, it is more common in infants from the malformation of the central nervous system, which is what happens with spina bifida.
• Limited dorsal myeloschisis (LDM) is a rare type of spina bifida that occurs when a fibroneural stalk grows between the spinal cord and the skin of a baby and forms a link. This is called tethering, and it is critical that surgery is used to release the spinal cord and remove the lesion in a timely fashion. Typically, babies born with this condition have a good prognosis and can expect a normal outcome from the procedure.
• Lipomyelomeningocele is a mass under the skin on the baby’s back that attaches to the spinal cord during the fourth to sixth week of development. The lump usually develops in the middle of the back and can be seen on the outside of the body. Although this condition is more common in girls, there is no known cause. It cannot be attributed to genetics or a lack of folic acid.
• Neurogenic bladder and neurogenic bowel occur when the nerves in the spinal cord that control bladder and bowel function are unable to communicate with the brain. These conditions result in a loss of bladder and bowel control and are common with spina bifida.
• Neuromuscular scoliosis is an irregular curvature of the spine that is caused by weakened nerves and muscles that are unable to properly support the spine. Spina bifida is one of the conditions that can cause neuromuscular scoliosis. Treatments focus on stabilizing the curve and stopping it from worsening.

Spina bifida usually is diagnosed during pregnancy through routine ultrasound screening of the fetus. Once that occurs, our doctors may determine that some babies are candidates for in utero surgery to repair the defect. This type of treatment is performed between 19 and 26 weeks of pregnancy because the fetus is considered viable and could survive if an emergency delivery were required.

Not every baby with spina bifida is a candidate for surgery, but those that are tend to have better results with in utero surgery than waiting for an operation after delivery. Our fetal surgery team follows the inclusion and exclusion criteria of the MOMS trial. Every mother and her fetus undergo a thorough workup to determine their candidacy for fetal surgery.

During in utero spina bifida surgery, a team of doctors with a range of specialized skills will be present in the operating room to take care of the mother and the baby.

Mothers usually remain in the hospital for three to five days after surgery and are on modified bed rest for three to four weeks after surgery to reduce the risk of preterm labor. Expectant mothers who’ve had fetal surgery are scheduled for a C-section (Cesarean birth) by 37 weeks.

Fetal surgery for spina bifida is not a cure, but studies show that prenatal repair can offer significantly better results than traditional post-delivery repair. Spina bifida is on a spectrum and those affected can have different challenges, including both physical and mental impairments. Fetal surgery for spina bifida has proven to greatly reduce the need to divert spinal fluid from the brain and can improve mobility and the possibility that a child will be able to walk independently or with minimal assistance.

If a mother doesn’t qualify for fetal surgery or she decides not to have the surgery, our Center for Fetal Care experts will continue to follow her personalized care plan for prenatal care and support during her pregnancy.

It is important for mothers of babies with spina bifida to deliver their babies at a medical center, such as Orlando Health Winnie Palmer, that specializes in spina bifida so they can receive the best possible care. A cesarean birth usually is safer for babies with myelomeningocele because they often are in a breech position.

Then, surgery to replace and cover the membranes and nerves usually takes place soon after delivery to minimize the risk of infection or further damage to the exposed nerves. During the procedure, the surgeon also may place a shunt to control hydrocephalus in the brain. Each baby then will be closely monitored in our neonatal intensive care unit (NICU).

As they grow, children with spina bifida require multidisciplinary care for most of their lives. Children may need to see a number of specialists, including a neurosurgeon, orthopedist, physical therapist, speech therapist, urologist and occupational therapist. Our team of healthcare professionals is here to help your child achieve their fullest potential.

The pediatric spina bifida program at Orlando Health Arnold Palmer offers comprehensive care and simple scheduling for multiple medical appointments. Our spina bifida specialists are available to meet with patients during a clinic every Friday. On a single day, patients can see physicians and experts in:

• Digestive health & nutrition
• Kidney center 
• Neurosurgery
• Orthopedics 
• Pulmonary and sleep medicine 
• Rehabilitation

After the clinic, a team conference allows specialists to discuss each patient and set goals for the next six to 12 months. Between appointments, our dedicated nurse coordinators stay in touch with patients and their families to guide patients’ care plans. These elements make the care received in the pediatric spina bifida clinic some of the best and most personal care available for patients with this complex condition.

Orlando Health is working to create the same multidisciplinary network of physicians, therapists and social workers to assist adult spina bifida patients with their needs. In addition to establishing a new network of care, this program also will teach life skills to adult patients that help them become independent.

Because of this joint effort between Spina Bifida Association of Central Florida (SBACFL) and Orlando Health, Florida will be one of the few states in the country that can provide coordinated and comprehensive adult care for spina bifida patients.