Fetal surgery during pregnancy may improve outcomes for babies with myelomeningocele, a severe form of spina bifida. Learn the latest treatment options.
Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It's a type of neural tube defect. The neural tube is the structure in a developing embryo that eventually becomes the baby's brain, spinal cord and the tissues that enclose them.
Typically, the neural tube forms early in pregnancy and it closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube doesn't close or develop properly, causing problems in the spinal cord and in the bones of the spine.
Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications. When necessary, early treatment for spina bifida involves surgery — although such treatment doesn't always completely resolve the problem.
Spina bifida can occur in different types: spina bifida occulta, myelomeningocele (my-uh-lo-muh-NING-go-seel) or the very rare type meningocele (muh-NING-go-seel).
Occulta means hidden. It's the mildest and most common type. Spina bifida occulta results in a small separation or gap in one or more of the bones of the spine (vertebrae). Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons.
Also known as open spina bifida, myelomeningocele is the most severe type. The spinal canal is open along several vertebrae in the lower or middle back. The membranes and spinal nerves push through this opening at birth, forming a sac on the baby's back, typically exposing tissues and nerves. This makes the baby prone to life-threatening infections and may also cause paralysis and bladder and bowel dysfunction.
This rare type of spina bifida is characterized by a sac of spinal fluid bulging through an opening in the spine. No nerves are affected in this type, and the spinal cord isn't in the fluid sac. Babies with meningocele may have some minor problems with functioning, including those affecting the bladder and bowels.
Myelomeningocele is a severe type of spina bifida in which the membranes and the spinal nerves protrude at birth, forming a sac on the baby's back. The exposed nervous system may become infected, so prompt surgery is needed after birth.
Signs and symptoms of spina bifida vary by type and severity, and also between individuals.
Typically, myelomeningocele is diagnosed before or right after birth, when medical care is available. Children diagnosed with this condition should be followed by a specialized team of health care providers throughout their lives. Families should be educated on the different complications to watch for.
Children with spina bifida occulta typically don't have any symptoms or complications, so usually only routine pediatric care is needed.
Doctors aren't certain what causes spina bifida. It's thought to result from a combination of genetic, nutritional and environmental risk factors, such as a family history of neural tube defects and folate (vitamin B-9) deficiency.
Spina bifida is more common among white people and Hispanics, and females are affected more often than males. Although doctors and researchers don't know for sure why spina bifida occurs, they have identified some risk factors:
If you have known risk factors for spina bifida, talk with your doctor to determine if you need a larger dose or prescription dose of folic acid, even before a pregnancy begins.
If you take medications, tell your doctor. If you plan ahead, some medications can be adjusted to diminish the potential risk of spina bifida.
Spina bifida may cause minimal symptoms or minor physical problems. But severe spina bifida can lead to more significant physical conditions. Severity is affected by:
This list of possible complications may seem overwhelming, but not all children with spina bifida get all of these complications. Many of these complications can be treated.
Folic acid, taken in supplement form starting at least one month before conception and continuing through the first trimester of pregnancy, greatly reduces the risk of spina bifida and other neural tube defects.
Having enough folic acid in your system by the early weeks of pregnancy is critical to prevent spina bifida. Because many women don't discover that they're pregnant until this time, experts recommend that all women of childbearing age take a daily supplement of 400 micrograms (mcg) of folic acid.
Several foods are fortified with 400 mcg of folic acid per serving, including:
Folic acid may be listed on food packages as folate, which is the natural form of folic acid found in foods.
Adult women who are planning pregnancy or who could become pregnant should be advised to get 400 to 800 mcg of folic acid a day.
Your body doesn't absorb folate as easily as it absorbs synthetic folic acid, and most people don't get the recommended amount of folate through diet alone, so vitamin supplements are necessary to prevent spina bifida. And it's possible that folic acid will also help reduce the risk of other birth defects, including cleft lip, cleft palate and some congenital heart defects.
It's also a good idea to eat a healthy diet, including foods rich in folate or enriched with folic acid. This vitamin is present naturally in many foods, including:
If you have spina bifida or if you've previously given birth to a child with spina bifida, you'll need extra folic acid before you become pregnant. If you're taking anti-seizure medications or you have diabetes, you may also benefit from a higher dose of this B vitamin. Check with your doctor before taking additional folic acid supplements.
If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and other birth defects. The tests aren't perfect. Some mothers who have positive blood tests have babies without spina bifida. Even if the results are negative, there's still a small chance that spina bifida is present. Talk to your doctor about prenatal testing, its risks and how you might handle the results.
Spina bifida can be screened with maternal blood tests, but typically the diagnosis is made with ultrasound.
Fetal ultrasound is the most accurate method to diagnose spina bifida in your baby before delivery. Ultrasound can be performed during the first trimester (11 to 14 weeks) and second trimester (18 to 22 weeks). Spina bifida can be accurately diagnosed during the second trimester ultrasound scan. Therefore, this examination is crucial to identify and rule out congenital anomalies such as spina bifida.
An advanced ultrasound also can detect signs of spina bifida, such as an open spine or particular features in your baby's brain that indicate spina bifida. In expert hands, ultrasound is also effective in assessing severity.
If the prenatal ultrasound confirms the diagnosis of spina bifida, your doctor may request amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the baby.
This examination may be important to rule out genetic diseases, despite the fact that spina bifida is rarely associated with genetic diseases.
Discuss the risks of amniocentesis, including a slight risk of loss of the pregnancy, with your doctor.
Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require any treatment at all, but other types of spina bifida do.
Nerve function in babies with spina bifida can worsen after birth if spina bifida isn't treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose the pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord. In select patients, this procedure can be performed less invasively with a special surgical tool (fetoscope) inserted into the uterus.
Research suggests that children with spina bifida who had fetal surgery may have reduced disability and be less likely to need crutches or other walking devices. Fetal surgery may also reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Discuss the potential benefits and risks, such as possible premature delivery and other complications, for you and your baby.
It's important to have a comprehensive evaluation to determine whether fetal surgery is feasible. This specialized surgery should only be done at a health care facility that has experienced fetal surgery experts, a multispecialty team approach and neonatal intensive care. Typically the team includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist and neonatologist.
Many babies with myelomeningocele tend to be in a feet-first (breech) position. If your baby is in this position or if your doctor has detected a large cyst or sac, cesarean birth may be a safer way to deliver your baby.
Myelomeningocele requires surgery to close the opening in the baby's back within 72 hours of birth. Performing the surgery early can help minimize the risk of infection associated with the exposed nerves. It may also help protect the spinal cord from more trauma.
During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. At the same time, the neurosurgeon may place a shunt in the baby's brain to control hydrocephalus.
In babies with myelomeningocele, irreparable nerve damage has likely already occurred and ongoing care from a multispecialty team of surgeons, physicians and therapists is usually needed. Babies with myelomeningocele may need more surgery for a variety of complications. Treatment for complications — such as weak legs, bladder and bowel problems, or hydrocephalus — typically begins soon after birth.
Depending on the severity of spina bifida and the complications, treatment options may include:
Children with spina bifida need close follow-up care and observation. Their primary care doctors evaluate growth, the need for vaccinations and general medical issues, and they coordinate medical care.
Children with spina bifida also often need treatment and ongoing care from:
Parents and other caregivers are a key part of the team. They can learn how to help manage a child's condition and how to encourage and support the child emotionally and socially.
News that your newborn child has a condition such as spina bifida can naturally cause you to feel grief, anger, frustration, fear and sadness. There's good reason for hope, however, because most people with spina bifida live active, productive and full lives — especially with encouragement and support from loved ones. Children with spina bifida can go on to college, hold jobs and have families.
Special accommodations may be necessary along the way, but encourage your child to be as independent as possible.
Independent mobility is an important and appropriate goal for all children with spina bifida. This may mean walking with or without braces, using walking aids (such as canes or crutches), or exclusively using a wheelchair. Encouraging children to participate in activities with their peers can be beneficial, and caregivers can help adjust activities to accommodate physical limitations.
Many children with spina bifida have typical intelligence, but some may need educational intervention for learning problems. Some children experience difficulty with attention, concentration or language that requires treatment from professionals outside of school.
As for any child with a chronic medical condition, children with spina bifida may benefit from meeting with mental health professionals, such as a child psychologist, to assist with adjustment and coping. Most children with spina bifida are resilient and adapt to their challenges with support from their parents, teachers and other caregivers.
If your child has spina bifida, you may benefit from finding a support group of other parents who are dealing with the condition. Talking with others who understand the challenges of living with spina bifida can be helpful.
Your doctor will likely suspect or diagnose your baby's condition during your pregnancy. If that's the case, you'll likely consult with a multispecialty team of physicians, surgeons and physical therapists at a center that specializes in spina bifida treatment.
Here's some information to help you get ready for your appointment and know what to expect from your health care providers if there are suspicions that your baby may have spina bifida.
To prepare for the appointment:
For spina bifida, some basic questions to ask include:
In addition to the questions that you've prepared, don't hesitate to ask other questions during your appointment.
Being ready to answer questions from your doctor may reserve time to go over any points you want to focus on. Your doctor may ask, for example: