SPINA BIFIDA

Signs and Symptoms

Spina Bifida Occulta

In this condition, usually, there are no signs or symptoms since the spinal nerves are not involved. However, there might be several signs on the skin of the baby right above the spinal problem. For example a tuft of hair, a tiny dimple, or a birthmark. Doctors can discover any underlying spinal cord issue in a newborn with an MRI or spinal ultrasound.

Meningocele

• This type may come up with complications related to bowel and bladder function.

Myelomeningocele

• Here, the spinal canal stays open in the lower or middle back with some visible vertebrae.
• At birth, membranes, spinal cord, or nerves will be found in a sac on the back of the baby.
• Even though sometimes skin covers the sac, tissues, and nerves are usually exposed.

Associated Complications 

Spina bifida can cause various symptoms and problems depending on the severity. Factors that determine the complications are:

• The severity and location of the NTD
• Whether the skin covers the affected area
• Which spinal nerves have come out of the affected section of the spinal cord

The range of associated complications may seem quite overwhelming. But the thing is, not all children with spina bifida experience all of these. Moreover, in some cases, they have none of these complications at all.

Our Doctors can Treat Many Associated Complications:

• Walking and mobility problems
• Orthopedic complications.
• Bowel and bladder problems.
• Accumulation of fluid in the brain (hydrocephalus).
• Sleep-disordered breathing.
• Shunt malfunction.
• Chiari malformation type II.
• Meningitis
• Tethered spinal cord.
• Latex allergy, etc

Diagnosis

Doctors can diagnose spina bifida during pregnancy or after the baby is born. The occulta type might stay completely undiagnosed until late childhood or adulthood, or might never be diagnosed.

During pregnancy, screening tests help check for spina bifida and detect other birth defects. Feel free to talk to our doctors if you have any questions or concerns regarding this prenatal testing.

Testing

AFP – AFP stands for alpha-fetoprotein. It is a protein that the unborn baby produces. This simple blood test helps measure how much AFP the baby has passed into the mother’s bloodstream. If there is a high level of AFP, the baby likely has spina bifida. However, elevated AFP levels can also be influenced by other factors, such as incorrect gestational dating or multiple pregnancies. Follow-up tests may be necessary to confirm results.

Ultrasound– Through ultrasound, doctors can see if the baby has any spinal problems. An ultrasound is typically performed during the first trimester (11 to 14 weeks) or the second trimester (18 to 22 weeks). The second-trimester ultrasound is particularly effective in diagnosing spina bifida, as it allows doctors to observe specific signs like an open spine or brain features indicative of the condition.

Amniocentesis– Doctors will take a small sample of the amniotic fluid from the womb surrounding the baby. If there is a higher level of AFP in the fluid, then there is a chance the baby has a spinal problem. This test may be used to rule out genetic disorders. It’s important to discuss the potential risks, including a slight chance of pregnancy loss, with your healthcare provider before proceeding.

These diagnostic methods are crucial in identifying spina bifida early, allowing parents and healthcare professionals to plan for the necessary care and treatment.

How Accurate Are Blood Tests in Diagnosing Spina Bifida During Pregnancy?

Blood tests can play a crucial role in the early detection of spina bifida during pregnancy, though their accuracy is influenced by several factors.

One of the primary screenings used is the Maternal Serum Alpha-Fetoprotein (MSAFP) test. This test analyzes a sample of the pregnant parent’s blood to measure levels of alpha-fetoprotein (AFP), a protein produced by the developing baby.

Key Considerations:

• High AFP Levels: Elevated AFP levels can indicate the possibility of a neural tube defect such as spina bifida. It’s important to note that while high AFP levels are a potential red flag, they aren’t definitive on their own.
• False Positives: The test can produce false-positive results due to factors unrelated to spina bifida. For example, incorrect estimation of the pregnancy’s timeline or the presence of twins can influence AFP levels.

If the initial blood test shows high AFP levels, further testing is often required for confirmation. These might include:

• Repeat Blood Tests: To verify initial findings and rule out any anomalies in the testing process.
• Ultrasound Examination: This imaging test provides a more detailed view of the baby’s development, especially helpful if blood test results are inconclusive.

In summary, while blood tests are a valuable screening tool for spina bifida, they are most effective when combined with additional diagnostic methods for a more accurate assessment.

After The Baby Is Born 

In several cases, spina bifida may stay undiagnosed until the baby is born. The common signs can be a dimple or a patch of hair on the baby’s back. Doctors use an X-ray, MRI, or CT to get a better image of the spine.

What to Expect During a Spina Bifida Consultation

When you visit a healthcare provider to discuss spina bifida, it’s important to be prepared for a detailed conversation. Here’s a breakdown of what you can anticipate during the appointment:

In-Depth Medical History

Your healthcare provider will likely begin by gathering information about your family’s medical history. Be ready to discuss whether there are any known cases of spina bifida or similar conditions within your family.

Personal Health Questions

You can expect questions focused on your health and pregnancy journey. For instance, your provider might ask if you have taken folic acid (vitamin B-9) supplements before and during pregnancy, as folic acid plays a crucial role in reducing the risk of neural tube defects.

Medication Review

Your doctor will inquire about any medications you are taking. Specifically, they might focus on anti-seizure medications, as certain drugs can influence the risk of spina bifida if used during pregnancy.

Preparedness for Specialized Care

If necessary, your healthcare provider may discuss the possibility of needing specialized care. This could include traveling to a facility equipped to handle cases of spina bifida, to ensure the best outcomes for you and your child.

By understanding these key areas, you’ll be better prepared to engage in an informative discussion with your healthcare provider, allowing for a thorough exploration of any concerns or questions you may have.

When is Cesarean Birth Recommended for Babies with Spina Bifida?

Cesarean birth, often referred to as a C-section, is sometimes recommended for babies diagnosed with spina bifida. One of the primary reasons is if the baby is in a breech position, which means they are feet-first rather than head-first. This positioning can complicate a traditional vaginal delivery, making a C-section a safer option.

Additionally, if the baby has developed a large cyst or sac, a cesarean delivery might be necessary. The presence of such formations can pose challenges during childbirth, and opting for a C-section can help prevent potential complications, ensuring safer outcomes for both mother and child.

In summary, healthcare providers often recommend a cesarean birth for babies with spina bifida when either a breech position or the presence of significant cysts or sacs is diagnosed. It’s always crucial to discuss your specific circumstances with your healthcare team to determine the safest delivery method for you and your baby.

Treatments of Spina Bifida

Since there are different types of spina bifida, not all born with this condition have similar needs. Hence, treatment will be different in each case depending on the severity of the condition. Children with myelomeningocele and meningocele will need more serious treatments than those with the Occulta type.

Understanding Fetal Surgery for Spina Bifida: Benefits and Risks

Fetal surgery for spina bifida offers a promising avenue for reducing disability in children. One of the primary benefits is the potential for improved mobility. Research indicates that children who undergo this procedure are less likely to need crutches or other walking aids as they grow. This surgery can also decrease the risk of developing hydrocephalus, a condition that causes fluid buildup in the brain.

However, as with any medical procedure, there are risks involved. One significant risk is premature delivery, which can lead to various complications for both the mother and the baby. Other potential complications include maternal health risks during and after the surgery.

It’s crucial to have an in-depth discussion with your healthcare provider to understand fully the implications—both positive and negative—of fetal surgery for your specific case. They can guide you in weighing these potential benefits against the risks to make an informed decision.

How is Spina Bifida Treated?

Treatment for spina bifida typically involves a multidisciplinary approach to address the various aspects of the condition. The specific treatment plan depends on the severity and symptoms of the individual. It may include surgery to repair the spinal defect soon after birth, management of associated complications such as hydrocephalus or orthopedic issues, physical therapy to improve mobility and strength, assistive devices, and ongoing medical care to monitor and address any health concerns. Early intervention and comprehensive care can greatly improve outcomes and quality of life for individuals with spina bifida.

Ongoing Care and Support

Children with spina bifida require close follow-up care and observation to ensure holistic management of their condition. Healthcare professionals play a crucial role in evaluating growth, vaccination needs, and general medical issues. This involves coordination among a wide range of specialists, including:

• Physical Medicine and Rehabilitation
• Neurology and Neurosurgery
• Urology and Orthopedics
• Physical and Occupational Therapy
• Special Education and Social Work
• Nutrition

Parents and caregivers are vital members of the care team. They can learn techniques to manage the child’s condition effectively and provide essential emotional and social support. By partnering with healthcare professionals, caregivers can help foster an environment that encourages the child’s development and well-being.

The Comprehensive Approach

This comprehensive approach ensures that all facets of the child’s health are addressed, facilitating a better quality of life and improved long-term outcomes.

It may include:

• Surgery to Repair the Spinal Defect: This is often performed soon after birth to close the opening in the spine and minimize the risk of infection and further complications.
• Management of Associated Complications: This includes addressing issues such as hydrocephalus and orthopedic problems. For hydrocephalus, surgery might be necessary to insert a ventricular shunt or perform an endoscopic third ventriculostomy to manage fluid buildup in the brain.
• Physical Therapy: Regular physical therapy is crucial to improve mobility and strength. It helps children develop motor skills and maintain muscle tone, which can lead to increased independence.
• Assistive Devices: Depending on the child’s needs, mobility aids such as braces, crutches, walkers, or wheelchairs may be used. These devices support movement and help children engage in daily activities more independently.
• Bowel and Bladder Management: Regular evaluations and management are vital to prevent organ damage and other health issues. This can include a combination of medicines, catheters, and, in some cases, surgery to ensure proper function and reduce the risk of complications.
• Ongoing Medical Care: Continuous monitoring by healthcare professionals is essential to address any emerging health concerns promptly. This comprehensive care ensures that any complications are managed effectively, improving the overall quality of life.

Early intervention and comprehensive care can greatly improve outcomes and quality of life for individuals with spina bifida. By tailoring treatment plans to each individual’s needs, healthcare providers can address the complex nature of this condition and support better long-term health and independence.

Surgical Procedures After Birth

For cases of myelomeningocele, a severe form of spina bifida, surgery is often required within the first 72 hours after birth. This urgent procedure aims to close the opening in the baby’s back, reducing the risk of infection from exposed nerves and protecting the spinal cord from further trauma. During the surgery, a neurosurgeon carefully places the spinal cord and exposed tissue back inside the baby’s body and covers them with muscle and skin to promote healing and protection.

Additionally, if the newborn is diagnosed with hydrocephalus, the surgical team may place a shunt in the brain to help manage this condition. This device helps control the buildup of cerebrospinal fluid, preventing potential complications.

By integrating surgical intervention with other aspects of care, such as physical therapy and the use of assistive devices, medical professionals strive to enhance the quality of life for those affected by spina bifida.

How is Fetal Surgery for Spina Bifida Performed?

Fetal surgery for spina bifida is a delicate procedure designed to repair the spinal cord of an unborn baby. This intervention takes place before the 26th week of pregnancy and aims to prevent nerve damage from worsening.

The Procedure

• Preparation: The surgical team begins by making an incision in the pregnant person’s abdomen.
• Uterine Access: They carefully open the uterus to access the developing fetus.
• Spinal Repair: The primary goal is to repair the exposed spinal cord of the fetus. Surgeons meticulously close the opening to protect the nerves.
• Closing the Incisions: Once the spinal repair is complete, the uterus and abdomen are carefully closed.

In some cases, a less invasive approach is an option. Known as fetoscopy, this technique uses a special instrument called a fetoscope. Surgeons insert this tool through small openings, or ports, to perform the surgery. This method can potentially reduce risks associated with more invasive surgery.

Potential Benefits and Risks

Research indicates that early surgical intervention can reduce disability in children with spina bifida. They may be less reliant on mobility aids, such as crutches. Additionally, this type of surgery can lessen the chances of developing hydrocephalus—a condition involving fluid accumulation in the brain.

However, like any major surgical procedure, fetal surgery carries risks. Premature delivery and other complications can arise. Therefore, it’s crucial to discuss with healthcare professionals whether this procedure suits your situation.

Selecting the Right Facility

Fetal surgery is complex and requires a specialized healthcare facility. Look for centers with a multidisciplinary team comprising fetal surgeons, pediatric neurosurgeons, maternal-fetal medicine specialists, cardiologists, and neonatologists, as well as an advanced neonatal intensive care unit. This ensures comprehensive care and the best possible outcomes for both the mother and the baby.

The Causes and Risk Factors 

Even though genetics, nutrition, and the environment play a crucial role in causing spina bifida, not all causes are clear. The condition is more common among Hispanics and white people. Also, research reports that females are affected more often than males. It is not clear why spina bifida occurs. But, doctors and researchers have identified some risk factors:

Folate Deficiency: Folate (vitamin B-9) is vital in the development of a healthy baby. While this is the natural form, the synthetic form called folic acid is found in supplements and fortified foods. A folate deficiency is a major risk factor in causing spina bifida.

Diabetes: Women with diabetes have a higher risk of having a baby with spina bifida.

Obesity: Pre-pregnancy obesity has an increased risk of birth defects.

Family history: Parents who have already had one child with a neural tube defect have a higher chance of having another baby with a similar defect. However, many babies with the condition are born to parents with no known family history of Spina Bifida.

Some Medications: When administered during pregnancy, anti-seizure medicines such as valproic acid tend to cause neural tube defects. Compounds like these prevent the body from using folate and folic acid.

Increased body temperature: Increased body temperature (hyperthermia), especially in the early weeks of pregnancy, increases the risk of spina bifida. Increases in core body temperature because of fever or having a sauna or hot tub increase the risk of spina bifida.

Preventive Measures

There are ways to reduce the risk of having a baby with spina bifida. Women can follow these preventive tips both before and during pregnancy.

• Doctors recommend taking 400 micrograms (mcg) of folic acid every day. Moreover, if you have already had a baby with spina bifida, you may benefit from taking a higher dose of folic acid both before and during early pregnancy. Talk to your doctor to know what is best for you and your baby.
• If you are already taking or about to take any prescription and over-the-counter drugs, vitamins, dietary supplements, or herbal supplements, discuss that with your doctor.
• If you have diabetes or obesity, ensure it is under control before you get pregnant.
• Avoid anything (hot tub or sauna) that increases your core body temperature or overheats your body.
• Treat any fever with Tylenol® (store-brand acetaminophen).

Remember that Spina bifida occurs in the first few weeks of pregnancy, often even before you know you are pregnant. Folic acid may not guarantee that a woman will have a healthy pregnancy. But, taking folic acid can reduce the chance of a woman getting pregnant with a baby with this condition. Doctors always recommend that all women planning to become pregnant take 400 mcg of folic acid daily.

How Families Can Cope with a Spina Bifida Diagnosis

Coping with a spina bifida diagnosis can initially feel overwhelming, but understanding the possibilities and proactive steps can provide a clear path forward. Here’s how families can effectively navigate this journey:

Embrace Positive Outlooks

First and foremost, it’s essential to recognize that individuals with spina bifida can lead fulfilling lives. With encouragement and support, they often pursue higher education, gain employment, and start families of their own. Keeping a positive perspective helps foster resilience in both the child and family members.

Prioritize Independence

Fostering independence is vital. Children can achieve mobility through various means—whether it’s walking with or without the aid of braces, utilizing canes or crutches, or opting for a wheelchair. Supporting your child in participating in social activities with peers encourages confidence and self-sufficiency. Caregivers can adapt activities to ensure they are inclusive.

Tailor Educational Support

Educational needs can vary, so it’s crucial to provide tailored support. While many children with spina bifida have typical intelligence, some may experience learning disabilities that affect attention, concentration, or language skills. Collaborating with teachers and seeking professional interventions can address these challenges.

Address Mental Well-being

Emotional health is as important as physical health. Engaging with mental health professionals, such as child psychologists, can aid in coping and adjusting to the lifelong journey with spina bifida. These professionals can offer strategies to handle emotional and psychological adjustments, making resilience more attainable.

Seek Community Support

Connecting with others who share similar experiences can be incredibly beneficial. Finding a support group for families living with spina bifida offers a space to share challenges and triumphs. These groups provide emotional support and practical advice from those who truly understand the journey.

By focusing on these areas, families can build a supportive and thriving environment for a child with spina bifida. Ultimately, empowerment through knowledge and community helps navigate the path with confidence and hope.

Spina Bifida Statistics:

Prevalence in the United States:

• Approximately 1,427 babies are born with spina bifida each year, or 1 in every 2,758 births.
• Hispanic women have the highest rate, followed by non-Hispanic Black women and non-Hispanic white women.

Globally:

• Estimated 8.5 per 10,000 live births worldwide.
• Varies significantly by region and country.

Types & Severity:

• Myelomeningocele (MMC): Most severe, with the spinal cord exposed.
• Meningocele: Sac containing meninges (membranes) but not the spinal cord.
• Occult spina bifida (OSB): Mildest form, with hidden neural tube defect.

Severity distribution:

• MMC: Roughly 80% of cases.
• Meningocele: Around 15%.
• OSB: 5%.

Impact:

• Physical challenges: Varies depending on severity and type. Can include paralysis, bowel and bladder issues, hydrocephalus (water on the brain), learning disabilities, and other complications.
• Lifespan: Average lifespan for individuals with spina bifida is increasing, but generally lower than the general population.
• Economic burden: Significant costs associated with healthcare, mobility aids, and other needs.

Additional Statistics:

• Folic acid fortification: Has significantly reduced spina bifida prevalence since implemented in many countries.
• Early diagnosis and intervention: Improves outcomes and quality of life for individuals with spina bifida.
• Support resources: Numerous organizations provide information, advocacy, and support for individuals and families affected by spina bifida. These resources are crucial for navigating the challenges that come with the condition.
  • Educational Support: Many children with spina bifida have typical intelligence, yet some might need extra help with learning disabilities. Resources are available to assist with attention, concentration, or language difficulties, often involving collaboration with educational professionals.
  • Mental Health Resources: Meeting with child psychologists and mental health professionals can greatly aid in adjustment and coping. These experts are poised to provide strategies that help children build resilience and adapt to their unique challenges.
  • Community and Peer Support: Engaging with support groups can be invaluable. These groups offer a platform to connect with other parents who understand the intricacies of living with spina bifida, fostering a sense of community and shared experience.

  By tapping into these various forms of support, families can better manage the complexities of spina bifida, ensuring a nurturing environment for their children.

Sources:

• Spina Bifida Association of America:

Chances of Spina Bifida Occurring in Future Pregnancies

Genetic Factors

• Family History: If you have a child with spina bifida, there is an increased risk of future pregnancies. The recurrence risk is approximately 3% to 5%.

Lifestyle and Environmental Factors

• Folic Acid Intake: Adequate consumption of folic acid before conception and during early pregnancy significantly reduces the risk. It’s recommended that women take 400 to 800 micrograms of folic acid daily.

Medical History and Conditions

• Previous Pregnancy Outcomes: If there have been prior pregnancies affected by neural tube defects, the chances may increase.

Consulting with Healthcare Providers

To gain a personalized risk assessment, it is advisable to:

• Discuss with a Genetic Counselor: They can provide detailed risk evaluations based on family and medical history.
• Regular Prenatal Checkups: Early and consistent prenatal care can offer monitoring and preventive guidance.

By addressing these factors collectively, expectant parents with a history of spina bifida or concerns about it can better understand and manage their risk in future pregnancies.

Preparing for a Medical Appointment About Spina Bifida

Before the Appointment

Understand Pre-Appointment Instructions:

• Verify any special instructions when scheduling your appointment. You might need to take specific steps, like hydrating before an ultrasound.

Document Your Medications:

• Compile a detailed list of all medications, including vitamins and supplements, that you’ve taken before and during your pregnancy.

Bring Support:

• Consider having a friend or family member accompany you. They can help remember key details discussed during the appointment.

Prepare Your Questions:

• List questions you want to ask, prioritizing the most crucial ones. Clear communication can lead to better understanding and care.

Key Questions to Consider

Diagnosis and Severity:

• What is the extent of spina bifida in my child?
• Is there any fluid accumulation in the brain?

Treatment Possibilities:

• Are there treatment options available during pregnancy?
• What interventions will be needed immediately after birth?

Long-Term Implications:

• Can these treatments eradicate the condition?
• Are there potential enduring effects?

Resource and Support:

• Who can I contact for support and resources in the community?
• What steps can I take to prevent this in future pregnancies?

Educational Material:

• Are there brochures or websites that offer reliable information?

During the Appointment

Feel free to ask any new questions that occur to you during the consultation. Open dialogue is essential, and no question is too small when it comes to your child’s health. Using this structured preparation can help ensure you cover all necessary topics and leave the appointment feeling informed and empowered.

Bottom Line 

If you are wondering how it would be for a child to live with Spina Bifida, it depends on how severe the condition is. While some may have little to no disability, others may have limited mobility, function, or sometimes even paralysis. However, with appropriate medical attention and care, most children affected by this condition can lead productive and fulfilling lives. And that’s why you should choose the Southwest Scoliosis and Spine Institute for your child. Doctors  Richard Hostin, MD, Devesh Ramnath, MD, Ishaq Syed, MD, Shyam Kishan, MD, and Kathryn Wiesman, MD, have many years of training and experience in Spine and Back Pain for kids, adolescents, young adults, and seniors, and can help people of all ages get back to living the life they love.

The following are just a few of the many reasons why patients might choose the Southwest Scoliosis and Spine Institute.

• Expertise in the spine: The team of specialists at Southwest Scoliosis and Spine Institute is recognized as the very best.  They specialize in the diagnosis and treatment of spinal conditions, ensuring the best possible care for their patients.
• Cutting-edge technology: Our practice uses the latest technology and techniques to diagnose and treat a wide range of conditions.  In addition, we use minimally invasive procedures that reduce pain and promote faster recovery.
• Comprehensive care: Our practice offers a full range of services, from diagnostic imaging and physical therapy to surgery.  We ensure that patients receive complete, seamless care for their spinal conditions.
• Dedicated facilities: Southwest Scoliosis and Spine Institute is dedicated to providing patients with a safe and comfortable environment.

Essential Questions for Parents to Ask About Spina Bifida

When navigating a diagnosis of spina bifida, parents must engage actively with their healthcare provider. Here’s a guide on what to inquire about:

Understanding the Diagnosis

• Severity and Impact: What is the nature of my child’s spina bifida diagnosis, and how severe is it?
• Hydrocephalus: Is there any indication of fluid accumulation in the brain, and what does this mean for my child?

Treatment Options

• Prenatal Intervention: Are there any available treatments during pregnancy that could benefit my baby?
• Postnatal Care: What immediate actions will be required after birth to support my child’s health?

Long-Term Outlook

• Prognosis and Recovery: Is there a possibility of a cure, and what are the potential long-term effects?
• Future Considerations: What are the chances of spina bifida occurring in future pregnancies, and how can we mitigate these risks?

Support and Resources

• Community Support: Who can assist us in finding local resources and support networks tailored for children with spina bifida?
• Educational Materials: Can you recommend any brochures, online resources, or support groups to help us better understand and manage the condition?

Prevention and Precaution

• Preventive Measures: What steps can we take to reduce the likelihood of spina bifida in any future pregnancies?

By addressing these questions, parents can gain a comprehensive understanding and better prepare to support their child’s unique needs.

____________________

Spina Bifida Association: Spina Bifida