What is spina bifida?
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Spina bifida is a birth defect in which an area of the spinal column doesn’t form properly, leaving a section of the spinal cord and spinal nerves exposed through an opening in the back.
Spina bifida occurs in 1 per 2,000 live births in the United States and is the most common central nervous system birth defect. Around 1,500 babies are born with spina bifida in the U.S. each year. Find some more fast facts about spina bifida.
Myelomeningocele
The most common and serious form of spina bifida is called myelomeningocele (my•e•lo•me•nin•go•cele) (MMC), in which part of the spinal cord and surrounding nerves push through the open bones (vertebrae) in the spine and protrude from the fetus’ back.
In myelomeningocele, spinal cord and nerves protrude from the back in a sac that is exposed to the amniotic fluid. Usually, the exposed spinal cord and nerves are contained in a sac that is exposed to amniotic fluid. Continuous bathing of the fragile developing spinal cord in amniotic fluid over the course of gestation is thought to result in progressive neurologic injury. Until recently, spina bifida treatment was relegated to post-birth surgery after damage from continuous exposure to amniotic fluid was already made.
Other types of spina bifida
Other types of spina bifida include myeloschisis, lipomeningocele and myelocystocele. Open neural tube defects such as myelomeningocele and myeloschisis are treatable by fetal repair. Closed neural tube defects such as lipomeningocele and myelocystocele are not treatable by fetal repair.
Causes of spina bifida
Myelomeningocele has genetic and micronutrient causes. Mothers who have had a baby with spina bifida have up to a 4 percent risk of recurrence in subsequent pregnancies.
Spina bifida symptoms
The myelomeningocele lesion can occur at any level on the developing spine, but most are found in the lumbo-sacral region. Depending on the lesion’s location, myelomeningocele may cause:
- Bladder and bowel problems (incontinence)
- Sexual dysfunction
- Weakness and loss of sensation below the defect
- Inability to move the lower legs (paralysis) and other cognitive impairments
- Orthopaedic malformations such as club feet or problems of the knees or hips
Generally, the higher the defect is located on the spine, the more severe the complications.
In many cases, the brain develops an Arnold-Chiari II malformation, in which the hindbrain herniates or descends into the upper portion of the spinal canal in the neck. This herniation of the hindbrain blocks the circulation of cerebrospinal fluid, causing hydrocephalus (accumulation of fluid in the brain), which can injure the developing brain. Ventricular shunting (placement of a thin tube into the ventricles of the brain) is used to drain fluid and relieve hydrocephalus.
Hindbrain herniation is a common finding for babies with spina bifida in which the lower, back part of the brain (the hindbrain) starts to come down (herniate) into the top of the spinal canal. Pictured here: Hindbrain in normal position. This herniation of the hindbrain blocks the circulation of cerebrospinal fluid, causing hydrocephalus (accumulation of fluid in the brain). Pictured here: Hindbrain descending into spinal canal. Ventricular shunting involves placement of a thin tube into the ventricles of the brain to drain fluid and relieve hydrocephalus. 1 of 1Hindbrain Herniation and Ventricular Shunting
Spina bifida can lead to a variety of social and emotional challenges and lifelong quality-of-life issues.
Evaluation and diagnosis of spina bifida
As with other birth defects, most myelomeningoceles are discovered by routine ultrasound evaluation between 16 and 18 weeks into the pregnancy.
Fetal ultrasound depicting myelomeningocele Sonographic features suggestive of myelomeningocele include a cystic mass anywhere on the spine. If no skin covers the defect, abnormally high alpha-fetoprotein (AFP) levels in the blood and amniotic fluid will support the diagnosis.
Mothers referred to CHOP’s Center for Fetal Diagnosis & Treatment for a spina bifida diagnosis undergo a comprehensive, one-day evaluation that includes:
- High-resolution level II ultrasound — to confirm the diagnosis and determine the location of the lesion, and to assess for any other birth defects such as club feet
- Ultrafast fetal MRI — to confirm presence of the Chiari II malformation and to screen for evidence of any other neurologic abnormalities
- Fetal echocardiogram—to determine any problems with the heart
- Amniocentesis — to confirm the presence of elevated amniotic fluid alpha-fetoprotein (AFAFP) levels and acetylcholinesterase (AChE), which indicate open neural tube defects
Fetal MRI showing a fetus with spina bifida Maternal serum alpha-fetoprotein (MSAFP) test — to confirm elevated AFP levels in the mother’s blood
After evaluation, you will meet with our multidisciplinary team, including a fetal surgeon, a neurosurgeon, an anesthesiologist, a maternal-fetal medicine specialist and a coordinator. The purpose of this meeting is to review your test results, confirm the diagnosis, explain spina bifida treatment options and potential outcomes, and answer all of your questions.
Delivery of babies with spina bifida
Delivery for all babies with myelomeningocele takes place in CHOP’s Garbose Family Special Delivery Unit (SDU), allowing for the highest level of immediate care for the newborn, as well as expert obstetric services for the mother — all within a leading pediatric hospital. The world’s first birth facility designed exclusively for pregnancies complicated by birth defects, the SDU is a vital part of our team’s ability to provide comprehensive care for spina bifida.
Spina bifida treatment
The two main spina bifida treatment options are fetal surgery during pregnancy or surgery on the baby right after birth.
Deciding whether prenatal or postnatal spina bifida repair is appropriate is influenced by several considerations, including gestational age, the level of the myelomeningocele lesion on the spine, presence of the Chiari II malformation, and a number of important maternal health factors.
Prenatal repair also requires a significant commitment on the part of the mother and her support person. Read our criteria for fetal surgery to determine when fetal surgery for myelomeningocele is an option.
Our team helps each family fully understand the benefits and risks of spina bifida treatment so they can make the best decision for their unique situation. Our team also counsels and supports families who choose to terminate the pregnancy.
Watch this video to learn more about spina bifida treatment options, the benefits of spina bifida surgery before birth, and the support services CHOP offers families.
Spina bifida surgery after birth
If postnatal spina bifida surgery is recommended or selected, your pregnancy is monitored — often at your home hospital — and a cesarean delivery is planned at CHOP at 37 weeks.
Traditional spina bifida treatment takes the form of surgical repair 24 to 48 hours after birth. Your child will undergo general anesthesia. A pediatric neurosurgeon removes the MMC sac, if one is present, and closes the surrounding tissue and skin over the defect to protect the spinal cord. After surgery, your baby will receive care in our Newborn/Infant Intensive Care Unit (N/IICU).
Spina bifida surgery before birth
Fetus with myelomeningocele before fetal surgery (l) and after surgery (r) Because spinal cord damage is progressive during gestation, prenatal repair of myelomeningocele may prevent further damage.
Experts at Children’s Hospital of Philadelphia (CHOP) co-led the landmark Management of Myelomeningocele Study (MOMS), which compared outcomes after prenatal and postnatal repair of myelomeningocele. Results demonstrated that prenatal repair can offer significantly better results than traditional postnatal repair:
- Reduced the need to divert fluid from the brain using ventricular shunting
- Reduced the incidence or severity of neurological effects such as impaired motor and sensory function of the legs
- Improved mobility and improved the chances that a child will be able to walk independently (see report confirming improved motor outcomes at 30 months)
- Reversed the hindbrain herniation component of the Arnold-Chiari II malformation
In a follow-up study 10 years later (MOMS2), new findings showed significant physical and emotional benefits in school-age children who received corrective surgery in the womb for MMC. Researchers continue to follow families involved in the study to measure longer term outcomes in their patients. The next phase of the study, known as MOMS3, is now following children up to ages 15 to 24, and will build upon the research in MOMS and MOMS2.
MOMS3: Follow-up Continues
Phase three of the Management of Myelomeningocele Study (MOMS) is monitoring the health outcomes of participants ages 15-24.
Fetal surgery for spina bifida is a complex and challenging procedure, requiring the most expert, comprehensive care for both mother and fetus. The surgical team’s level of experience and all aspects of care surrounding the operation are of paramount importance. See a report on key outcomes and measures of success reported by our team since the MOMS trial to learn more about our experience and results.
If your unborn baby has been diagnosed with myelomeningocele and you are a candidate for prenatal spina bifida treatment at Children’s Hospital of Philadelphia, the surgery is performed between 23 weeks and 25 weeks 6 days gestation.
Learn more about fetal surgery for spina bifida »
Spina bifida prognosis
Rarely children can pass away due to complications associated with Chiari II malformation or hydrocephalus. Many patients require shunts (85 percent), and 45 percent of shunts develop complications within one year.
Follow-up care
Children’s Hospital provides comprehensive long-term follow-up for children with spina bifida, from the time of repair through adolescence. Our dedicated Spina Bifida Program’s interdisciplinary team includes a pediatrician, nurse, social worker, physical therapist, neurosurgeon, orthopaedic specialists, urologist and genetic counselor — all focused on the care of children with spina bifida. As needed, other subspecialists within CHOP are consulted.
Follow-up includes visits every four to six months until age 2, then annually, with urodynamic testing and renal bladder ultrasounds to ensure kidneys function properly and bladder function is stable.
Depending on the location of the lesion and outcome after surgery, follow-up care may also include:
- Clean intermittent catheterization
- Bowel management
- Lower extremity bracing
- Physical therapy evaluation and guidance to outside physical therapists and early intervention
- Pressure sore management
- Referral to appropriate psychosocial and financial resources
- Consultation with other subspecialties including ophthalmology, nephrology, nutrition and feeding specialists, and plastic surgery
The Spina Bifida team works closely with each child’s primary care pediatrician and school, and helps families access appropriate community services.
Ongoing follow-up is critical when it comes to improving outcomes and advancing treatment for patients with myelomeningocele.
FAQs
What is the main cause of spina bifida? ›
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.
What is the best treatment for spina bifida? ›Spina bifida treatment. The two main spina bifida treatment options are fetal surgery during pregnancy or surgery on the baby right after birth.
What causes spina bifida treatments? ›Causes of spina bifida
low folic acid intake during pregnancy. having a family history of spina bifida. medicines – taking certain medicines such as valproic acid (used to prevent seizures) during pregnancy has been linked to an increased risk of having a baby with spina bifida.
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: Physical medicine and rehabilitation.
Can spina bifida be caused by drug use? ›Studies have shown that babies born to women who take certain antiepileptic medications during pregnancy, particularly valproic acid, have an increased risk for birth defects like spina bifida and cleft palate.
Why does obesity cause spina bifida? ›Obesity causes greater health problems for people who have Spina Bifida. A heavy body further limits mobility and the ability to manage activities of daily living. This leads to a spiraling problem of decreased energy use and weight gain, making it harder to keep up in social and work situations.
Can people walk with spina bifida? ›People affected by spina bifida get around in different ways. These include walking without any aids or assistance; walking with braces, crutches or walkers; and using wheelchairs. People with spina bifida higher on the spine (near the head) might have paralyzed legs and use wheelchairs.
How long do spina bifida patients live? ›Many children with spina bifida live into adulthood with the proper treatment and care. The estimated mean age for a person with spina bifida is 40 years. Spina bifida is a permanent, incurable condition. Although living with it is often difficult, many individuals can lead independent and fulfilling lives.
Do people with spina bifida live a normal life? ›People with spina bifida who have milder forms of the condition and do not have any other major health problems can expect to have a normal lifespan. However, those with more severe forms of spina bifida or who have other associated health problems (such as hydrocephalus) may have a shorter life expectancy.
Can a baby be cured of spina bifida? ›An infant born with spinal bifida may have nerve damage below the affected area of the spinal cord. Some will have learning disabilities or intellectual disabilities. There is no cure but most people with spina bifida lead long lives. People with spina bifida have different abilities and medical issues.
What prevents spina bifida birth defects? ›
Spina bifida is a serious birth defect in which a baby's spine does not form correctly and can result in some severe physical disabilities. All people who are capable of becoming pregnant should get 400 mcg of folic acid every day.
Can spina bifida be cured with surgery? ›Fetal surgery for spina bifida is not a cure, but studies show that prenatal repair can offer significantly better results than traditional postnatal repair.
Who is most at risk for spina bifida? ›obesity – women who are obese (have a body mass index of 30 or more) are more likely to have a child with spina bifida than those of average weight. diabetes – women with diabetes may have an increased risk of having a child with spina bifida.
Is spina bifida a disability? ›Spina bifida might cause physical and intellectual disabilities that range from mild to severe. The severity depends on: The size and location of the opening in the spine. Whether part of the spinal cord and nerves are affected.
At what age is spina bifida diagnosed? ›Spina bifida can usually be detected in the fetus, but not always. These tests include: A blood test: Taken during the 16th to 18th week of pregnancy, this screening tests the amount of AFP (alpha-fetoprotein) in the blood. The amount is higher in about 75% to 80% in women who carry a fetus with spina bifida.
Can stress cause spina bifida? ›The association of stressful life events with anencephaly and spina bifida was stronger among women who did not take folic acid supplements than among women who did take supplements (Table 4).
What organs does spina bifida affect? ›Spina bifida can affect how your baby's brain, spine, spinal cord and meninges develop. Meninges are the tissues that cover and protect the brain and the spinal cord. The neural tube starts out as a tiny, flat ribbon that grows into a tube. The neural tube usually closes in the first few weeks of pregnancy.
Which drug is known to cause birth defects? ›The medical community was slow to discover the danger of thalidomide because the drug gave rise to birth defects only when taken between the fourth and eighth weeks of pregnancy.
What foods should be avoided with spina bifida? ›Have your child avoid caffeinated drinks like tea, coffee, cola, energy drinks, and certain sodas • Consider buying an air fryer to cut calories if your family really likes crunchy, fried foods. Constipation and urinary tract infections (UTIs) are common in children with spina bifida.
What are 5 health issues a person with spina bifida might have? ›The person might have back pain, scoliosis (crooked spine), leg and foot weakness, changes in bladder or bowel control, and other problems. A tethered spinal cord can be treated with surgery.
What are the chances of having a baby with spina bifida? ›
Spina bifida is a type of neural tube defect. Neural tube defects affect 7 out of 10,000 live births in the U.S.
Does spina bifida affect the brain? ›Some babies with spina bifida have hydrocephalus (excess fluid on the brain), which can damage the brain and cause further problems. Many people with spina bifida and hydrocephalus will have normal intelligence, although some will have learning difficulties, such as: a short attention span. difficulty solving problems.
How do people with spina bifida pee? ›Children with spina bifida generally require lifelong use of a technique called clean intermittent catheterization in order to protect their kidneys, prevent urinary tract infections and allow them to wear underwear instead of diapers. Many also need to take a type of medication called an anticholinergic.
Does spina bifida put you in a wheelchair? ›People with spina bifida higher on the spine (near the head) might have paralyzed legs and use wheelchairs. Those with spina bifida lower on the spine (near the hips) might have more use of their legs and use crutches, braces, or walkers, or they might be able to walk without these devices.
Is spina bifida genetic or hereditary? ›Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance.
Do people with spina bifida have normal intelligence? ›Most children with spina bifida have normal intelligence, but some may have learning difficulties.
What is the most serious complication of spina bifida? ›Paralysis. People with paralysis caused by spina bifida will require life-long assistance from wheelchairs, leg braces, or crutches to help them move around. Paralysis may be partial or complete.
Can babies with spina bifida move their legs? ›Infants with Spina Bifida (SB) demonstrate decreased leg movements and delayed ambulation compared to typically developing (TD) babies. Spina Bifida is the most common neural tube defect and leads to delayed functional mobility.
Can babies with spina bifida sit up? ›Spina bifida and early mobility - birth to nine months
In the early days they will be developing skills to hold up their head, roll over and move on the floor and sit up. Not all babies will achieve this at this time, but they should all work towards these milestones.
First off, Spina Bifida diagnosis is not the parent's fault. Every woman of childbearing age is at risk of having a pregnancy affected by a birth defect. Birth defects can't be prevented; the risk can only be reduced.
What are the signs of spina bifida in pregnancy? ›
In some cases, the only sign is a dimple, birthmark or hair tuft above the gap in the spine. (Many people don't even realize they have spina bifida unless they happen to have an X-ray.) Others with spina bifida occulta may have back pain, leg weakness, or bowel or bladder problems.
Can a blood test detect spina bifida? ›Measuring the alpha-fetoprotein (AFP) level by a blood test checks for open NTDs. About 80 percent of the time when a woman is carrying a child with spina bifida or anencephaly, her blood test will show a higher than normal AFP level.
What happens if spina bifida is left untreated? ›If left untreated, hydrocephalus can cause brain damage, blindness or seizures. In addition to physical problems, spina bifida can produce learning problems, including difficulty with the following: Paying attention and expressing or understanding spoken language. Reading and mathematical concepts.
Can spina bifida be avoided? ›Talk to your provider about things you can do to help reduce your risk for spina bifida: Take folic acid. Folic acid is a B vitamin that every cell in your body needs for normal growth and development. Taking folic acid before and during early pregnancy can help prevent neural tube defects in your baby.
How does spina bifida occur in pregnancy? ›A baby's spine and brain begin to develop from the neural tube of the embryo during the first month of pregnancy. Spina bifida occurs when the neural tube has a defect and fails to close completely, leaving a gap in the baby's spine.
Can people born with spina bifida walk? ›People affected by spina bifida get around in different ways. These include walking without any aids or assistance; walking with braces, crutches or walkers; and using wheelchairs. People with spina bifida higher on the spine (near the head) might have paralyzed legs and use wheelchairs.
Is spina bifida my fault? ›First off, Spina Bifida diagnosis is not the parent's fault. Every woman of childbearing age is at risk of having a pregnancy affected by a birth defect. Birth defects can't be prevented; the risk can only be reduced.
What week of pregnancy does spina bifida occur? ›Typically occurring within the first 28 days of pregnancy, while the neural tube is forming, Spina Bifida often occurs before a woman knows she is pregnant. Commonly referred to as the “snowflake condition” of birth defects because no two cases are the same, Spina Bifida can range from mild to severe.
What is the life expectancy of spina bifida? ›Many children with spina bifida live into adulthood with the proper treatment and care. The estimated mean age for a person with spina bifida is 40 years. Spina bifida is a permanent, incurable condition. Although living with it is often difficult, many individuals can lead independent and fulfilling lives.
How can I prevent spina bifida during pregnancy? ›Folic acid is the only form of folate that has been shown to help prevent neural tube defects. Folic acid is a specific form of folate that does not generally occur naturally. You can find folic acid in vitamins, fortified foods like rice, pasta, and bread, and some breakfast cereals that are labeled “enriched.”
What are the signs of spina bifida during pregnancy? ›
In some cases, the only sign is a dimple, birthmark or hair tuft above the gap in the spine. (Many people don't even realize they have spina bifida unless they happen to have an X-ray.) Others with spina bifida occulta may have back pain, leg weakness, or bowel or bladder problems.
Can a baby born with spina bifida live a normal life? ›People with spina bifida who have milder forms of the condition and do not have any other major health problems can expect to have a normal lifespan. However, those with more severe forms of spina bifida or who have other associated health problems (such as hydrocephalus) may have a shorter life expectancy.
What are 3 complications that are associated with spina bifida? ›- Traumatic birth and difficult delivery of the baby.
- Frequent urinary tract infections.
- Fluid buildup on the brain (hydrocephalus)
- Loss of bowel or bladder control.
- Brain infection (meningitis)
- Permanent weakness or paralysis of legs.