Understanding Myelomeningocele: What Parents Need to Know About Spina Bifida

Expecting a new baby is an exciting time in your life. However, you might sometimes face unexpected health challenges that arise during pregnancy.

One such condition is myelomeningocele, a complex birth defect affecting how a baby's spine and spinal cord develop in the womb. You may also hear this condition referred to as open spina bifida.

What is Myelomeningocele?

Simply put, myelomeningocele is a birth defect where your baby's spine and spinal canal do not close completely before birth. This condition belongs to a group of nervous system disorders known as neural tube defects.

Pronounced my-uh-loh-muh-ning-go-seel, this condition develops within the first four weeks of pregnancy. The neural tube fails to close properly, causing a fluid-filled sac to push out through an opening in the baby's back.

This sac may contain a portion of the spinal cord, tissues covering the spinal cord known as meninges, nerves, and cerebrospinal fluid. While it can occur anywhere along the spine, it most often appears in the lower back and sacral areas.

Damage to the exposed spinal cord and nerves often occurs. This damage typically results in weakness or a loss of feeling in the body parts below the affected area. Sometimes, the fluid-filled sac can rupture either due to normal movements in the womb or during delivery.

As the most severe form of spina bifida, myelomeningocele causes moderate to severe disabilities. Examples include muscle weakness, loss of bladder or bowel control, and paralysis. However, babies with the condition lower down on the spine usually experience milder symptoms than those with issues higher up.

What Are Neural Tube Defects?

Neural tube defects are birth defects of the brain, spine, or spinal cord. These conditions usually develop during the first month of pregnancy, sometimes before you even realize you are pregnant. Spina bifida and anencephaly are the two main types.

During the first month of pregnancy, both sides of the embryo's spine join together to enclose and protect the spinal cord, spinal nerves, and meninges. The developing brain and spine of the embryo make up this neural tube.

Any disruption or defect in how this neural tube forms results in a neural tube defect. Early detection and preventive care play a crucial role in managing these conditions.

Difference Between Spina Bifida and Myelomeningocele.

Spina bifida refers to any birth defect where the neural tube along the spine does not close completely. This condition can occur anywhere along the child's spine if the neural tube does not close fully in the womb.

When this happens, the protective bone structure around the spinal cord fails to form properly. This leaves the baby's spinal cord and nerves vulnerable to damage.

Myelomeningocele represents a specific and severe type of spina bifida. It involves a fluid-filled sac protruding from the baby's back, containing parts of the spinal cord and nerves. Other types of spina bifida include meningocele and spina bifida occulta.

Difference Between Meningocele and Myelomeningocele.

Both myelomeningocele and meningocele are types of spina bifida, but they have distinct differences. In meningocele, a fluid-filled sac pushes through an opening in the baby's back, but the sac does not contain the spinal cord.

This means nerve damage rarely occurs or stays very mild in meningocele cases. In contrast, myelomeningocele features a sac containing both spinal cord tissue and nerves that have sustained damage, making it a much more serious condition.

Who Does Myelomeningocele Affect?

Myelomeningocele can affect any developing baby. While scientists do not know the exact cause, they have identified certain genetic, environmental, and nutritional factors that increase the risk of this condition.

How Common Is This Condition?

Myelomeningocele is one of the most common birth defects of the central nervous system. For example, it affects about 1,645 babies born in the United States every year. Cases also occur globally.

Symptoms of Myelomeningocele.

Babies with myelomeningocele typically present with a fluid-filled sac along the middle to lower part of the spine. Doctors can often identify this condition during pregnancy using routine ultrasound scans.

Babies with myelomeningocele may also have other birth defects. About 8 out of 10 babies with this condition develop hydrocephalus, which involves a buildup of fluid in the brain.

Other problems related to the spinal cord, muscles, or bones that may accompany myelomeningocele include:

• Syringomyelia, a fluid-filled cyst within the spinal cord.
• Hip dislocation.

Causes of Myelomeningocele.

Doctors and scientists have not yet found the exact cause of myelomeningocele. However, they believe the condition results from a complex combination of genetic, nutritional, and environmental factors.

Specifically, low levels of folic acid in the mother's body before conception and during early pregnancy can contribute to this birth defect. Folic acid, also known as folate, is essential for healthy brain and spinal cord development.

How Doctors Diagnose Myelomeningocele Before Birth.

Doctors can often, though not always, detect myelomeningocele while the baby is still in the womb. They use several tests for this purpose:

• Blood test: Your doctor may recommend an alpha-fetoprotein (AFP) blood test between the 16th and 18th weeks of pregnancy. About 75% to 80% of pregnant women carrying a baby with spina bifida have higher-than-normal AFP levels. If your levels are elevated, your doctor will order further tests, such as an ultrasound.
• Fetal prenatal ultrasound: An ultrasound scan during pregnancy serves as the most accurate method for identifying myelomeningocele. Doctors typically recommend scans during the first trimester (weeks 11-14) and second trimester (weeks 18-22). Scans in the second trimester can accurately pinpoint this condition.
• Amniocentesis: If an ultrasound confirms myelomeningocele, your doctor may suggest amniocentesis. This test checks for rare genetic disorders associated with myelomeningocele. The doctor uses a needle to collect a sample of amniotic fluid from around the baby. Because this test carries some risks, you should discuss it thoroughly with your doctor.

If doctors do not diagnose the condition during pregnancy, they use imaging tests such as an MRI or CT scan after birth to confirm myelomeningocele.

Treatments for Myelomeningocele.

Treatment for myelomeningocele generally involves surgery to close the opening in the baby's spine. Doctors can perform this surgery either before birth as a fetal surgery or shortly after birth as postnatal surgery.

Because many babies with myelomeningocele also have hydrocephalus, they may require a ventriculoperitoneal shunt to drain excess fluid from the brain.

Many children require lifelong treatments to manage issues caused by damage to the spinal cord and nerves. Common treatments include antibiotics to prevent infections like meningitis or urinary tract infections, alongside physical therapy.

Fetal Surgery for Myelomeningocele.

Fetal surgery before birth is an option depending on the severity of the myelomeningocele and the mother's health. These surgeries are becoming increasingly common.

While this surgery can prevent symptoms from worsening, it cannot reverse damage that has already occurred to the spinal cord or nerves.

Important: Fetal surgeries carry certain risks. Examples include a higher risk of preterm delivery and thinning or tearing of the uterine scar during childbirth.

Postnatal Surgery for Myelomeningocele.

If your baby does not undergo fetal surgery to close the spinal opening, surgery should take place as soon as possible after birth to reduce infection risk. Ideally, surgeons perform this operation within the first 48 hours of life.

Medical Specialists for Children with Myelomeningocele.

Most children with myelomeningocele benefit from the support of a multidisciplinary team of medical specialists to coordinate their care. Specialists involved in your child's care may include:

• Neurologist .
• Neurosurgeon .
• Fetal surgeon .
• Urologist .
• Orthopaedist .
• Dermatologist .
• Physical therapist .

Risk Factors for Myelomeningocele.

Unfortunately, you cannot completely prevent birth defects like myelomeningocele—you can only lower the risk. Most cases occur sporadically, but researchers have identified several risk factors associated with the condition:

• Folate deficiency: Folate, the natural form of vitamin B9, is vital for healthy fetal development. Folate deficiency increases the risk of spina bifida and other neural tube defects. If you are pregnant or planning to become pregnant, taking prenatal vitamins ensures you get enough folate and other vital nutrients.
• Family history of neural tube defects: Parents who have had one child with a neural tube defect face roughly a 3% higher risk of having a second child with the condition. also, women born with a neural tube defect have a higher chance of having a baby with myelomeningocele compared to women without one. However, most babies with myelomeningocele are born to parents with no family history of the condition.
• Anti-seizure medicines: Taking certain anti-seizure medicines during pregnancy is linked to a higher risk of neural tube defects.
• Diabetes: Pregnant women with poorly controlled diabetes face an increased risk of having a baby with myelomeningocele.
• Obesity: Obesity prior to pregnancy increases the risk of having a baby with a neural tube defect, including myelomeningocele.
• Increased body temperature: Prolonged fever during the early weeks of pregnancy, or raising core body temperature through saunas or hot tubs, slightly increases the risk of myelomeningocele due to hyperthermia.

Remember that having a baby with myelomeningocele is not your fault. Anyone of childbearing age faces some risk of an affected pregnancy.

Prognosis for Myelomeningocele.

No two people experience myelomeningocele in the exact same way. The prognosis depends on several factors, including:

• The initial condition of their spinal cord and nerves.
• How high or low the opening is located on the spine.
• Whether the sac is open or closed.
• Whether they received surgery before or after birth.

For people with spina bifida between the ages of 5 and 30, the annual mortality rate is about 1%. The higher the lesion sits on the spine, the greater the risk of complications and mortality.

Secondary effects and complications of myelomeningocele can greatly impact quality of life. people with this condition face a higher likelihood of having depression, anxiety, and risk-taking behaviors.

Complications of Myelomeningocele.

Complications associated with myelomeningocele include:

• Paralysis and/or loss of sensation in body parts below the lesion.
• Reduced mobility due to muscle weakness.
• Bone and joint issues related to paralysis, such as scoliosis, joint contractures, and hip dislocation.
• Loss of bladder and/or bowel control.
• Frequent urinary tract infections.
• Meningitis (brain infection).
• Latex allergy.
• Learning differences or developmental delays (cognitive impairments).
• Seizures.

Caring for a Child with Myelomeningocele.

The most important thing to remember is that myelomeningocele affects every child differently, and doctors cannot predict your baby's exact outcome. The best step you can take is to talk with specialists who research and treat spina bifida and myelomeningocele.

As your child grows, support from a team of medical specialists helps manage their specific needs.

When to Talk to Your Doctor.

If your child is born with myelomeningocele, they will need regular appointments with their doctor or medical team throughout their lives.

You should contact your doctor if:

• Your child experiences delays in reaching milestones like crawling or walking.
• Your child shows signs of hydrocephalus.
• Your child shows signs of meningitis.

Questions to Ask Your Doctor.

If your doctor suspects myelomeningocele, asking these questions can help you understand the condition:

• What steps can I take to stay healthy for the remainder of my pregnancy?
• Can you recommend specialists who treat spina bifida and myelomeningocele?
• What treatment options are available for myelomeningocele?
• What are the risks and benefits of fetal repair surgery versus postnatal repair surgery?
• Am I at risk of having another child with myelomeningocele?
• Do you have information on support groups for people and families affected by myelomeningocele?

Learning that your baby has a serious medical condition can feel overwhelming. Remember that you are not alone—many resources exist to help you and your family. Talking with a knowledgeable doctor about how this condition might affect your baby and how to prepare is a vital step forward.