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 normal babies. 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.
Your doctor will most likely check for spina bifida by first performing these tests:
- Maternal serum alpha-fetoprotein (MSAFP) test. For the MSAFP test, a sample of the mother's blood is drawn and tested for alpha-fetoprotein (AFP) — a protein produced by the baby. It's normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream. But abnormally high levels of AFP suggest that the baby has a neural tube defect, such as spina bifida, though some spina bifida cases don't produce high levels of AFP.
- Test to confirm high AFP levels. Varying levels of AFP can be caused by other factors — including a miscalculation in fetal age or multiple babies — so your doctor may order a follow-up blood test for confirmation. If the results are still high, you'll need further evaluation, including an ultrasound exam.
- Other blood tests. Your doctor may perform the MSAFP test with two or three other blood tests. These tests are commonly done with the MSAFP test, but their objective is to screen for other abnormalities, such as trisomy 21 (Down syndrome), not neural tube defects.
Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The most common ultrasound exams bounce high-frequency sound waves off tissues in your body to form images on a video monitor.
The information these images provide can help establish whether there's more than one baby and can help confirm gestational age, two factors that can affect AFP levels. 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.
If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the baby.
An analysis of the sample indicates the level of AFP present in the amniotic fluid. A small amount of AFP is normally found in amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac.
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 treatment at all, but other types of spina bifida do.
Surgery before birth
Nerve function in babies with spina bifida can worsen after birth if it's not treated. Prenatal surgery for spina bifida (fetal surgery) takes place before the 26th week of pregnancy. Surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord.
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. In addition, fetal surgery may reduce the risk of hydrocephalus. Ask your doctor whether this procedure may be appropriate for you. Discuss the risks, such as possible premature delivery and other complications, and potential benefits 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.
Surgery after birth
Meningocele involves surgery to put the meninges back in place and close the opening in the vertebrae. Because the spinal cord develops normally in babies with meningocele, these membranes often can be removed by surgery with little or no damage to nerve pathways.
Myelomeningocele also requires surgery. Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and 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. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord.
Treatment for complications
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 may include, for example:
- Walking and mobility aids. Some babies may start exercises to prepare their legs for walking with braces or crutches when they're older. Some children may need walkers or a wheelchair. Mobility aids, along with regular physical therapy, can help a child become independent.
- Bowel and bladder management. Routine bowel and bladder evaluations and management plans help reduce the risk of organ damage and illness. Evaluations include X-rays, kidney scans, ultrasounds, blood tests and bladder function studies. These evaluations will be more frequent in the first few years of life, but less often as children grow.
- Bowel management may include oral medications, suppositories, enemas, surgery, or a combination of these approaches.
- Bladder management may include medications, using catheters to empty the bladder, surgery, or a combination.
- For children, a specialist in pediatric urology with experience in evaluating and performing surgery on children with spina bifida is the best choice.
- Surgery for hydrocephalus. Most babies with myelomeningocele will need a ventricular shunt — a surgically placed tube that allows fluid in the brain to drain into the abdomen. This tube might be placed just after birth, during the surgery to close the sac on the lower back or later as fluid accumulates. A less invasive procedure, called endoscopic third ventriculostomy, may be used, but candidates must be carefully chosen and meet certain criteria. The surgeon uses a small video camera to see inside the brain and makes a hole in the bottom of or between the ventricles so cerebrospinal fluid can flow out of the brain.
- Treatment and management of other complications. To help with functioning, special equipment such as bath chairs, commode chairs and standing frames may be needed. Whatever the issue — orthopedic complications, tethered spinal cord, GI issues, skin problems, or others — most spina bifida complications can be treated or at least managed to improve quality of life.
Children with spina bifida need close follow-up care and observation. Their primary care doctors follow growth, the need for immunizations and general medical issues. They coordinate your child's medical care.
Children with spina bifida also often need treatment and ongoing care from:
- Physical medicine and rehabilitation
- Physical therapy
- Occupational therapy
- Special education teachers
- Social workers
Parents and other caregivers are a key part of the team, learning how to help manage their child's condition and how to encourage and support their child emotionally and socially. Keep in mind that 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.
Coping and support
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 to hope, however, because most people with spina bifida live active, productive and full lives — especially with encouragement and support from loved ones.
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. They benefit from encouragement to participate in activities with their peers, and caregivers can help adjust activities to accommodate physical limitations.
Many children with spina bifida have normal 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.
Preparing for your appointment
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 what to expect from your health care providers if there are suspicions that your baby may have spina bifida.
What you can do
To prepare for the appointment:
- Be aware of any pre-appointment instructions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as drink extra water before an ultrasound.
- Make a list of all medications, vitamins, herbs and supplements that you took before and during your pregnancy, and the dosages.
- Ask a family member or friend to come with you, if possible. Sometimes it can be difficult to remember all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
- Create a list of questions to ask your doctor, starting with the most important, in case time runs out.
For spina bifida, some basic questions to ask include:
- Is spina bifida present and how severe is it?
- Is there evidence of water on the brain (hydrocephalus)?
- Can my baby be treated during pregnancy?
- What will be done for my baby immediately after birth?
- Will the treatment cure my child?
- Will there be any lasting effects?
- Who can I contact to find out about community resources that may be able to help my child?
- What is the likelihood of this happening again in future pregnancies?
- How can I keep this from happening again in the future?
- Are there any brochures or other printed material that I can have? What websites do you recommend?
In addition to the questions that you've prepared, don't hesitate to ask other questions during your appointment.
What to expect from your doctor
Be ready to answer questions from your doctor to reserve time to go over any points you want to focus on. Your doctor may ask, for example:
- Have you ever had a child with spina bifida or other birth defects?
- Is there a family history of spina bifida?
- Did you take folic acid (vitamin B-9) before and during your pregnancy?
- Are you on any anti-seizure medications, or were you taking them at the beginning of your pregnancy?
- If necessary, are you able to travel to a facility that offers specialized care?