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.
- 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 high levels of AFP don't always occur in spina bifida.
- 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.
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.
Surgery before birth
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 also be performed less invasively with a fetoscope through ports in 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.
Surgery after birth
Myelomeningocele requires surgery. 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.
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 options may include:
- 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. Even children who need a wheelchair can learn to function very well and become self-sufficient.
- 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. A specialist in pediatric urology with experience in evaluating and performing surgery on children with spina bifida may offer the most effective management options.
- 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 of treatments.
- Surgery for hydrocephalus. Most babies with myelomeningocele will need a surgically placed tube that allows fluid in the brain to drain into the abdomen (ventricular shunt). 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 an option. But candidates must be carefully chosen and meet certain criteria. During the procedure, 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. Special equipment such as bath chairs, commode chairs and standing frames may help with daily functioning. 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 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
- Physical therapy
- Occupational therapy
- Special education teachers
- Social workers
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.
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 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 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 know 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
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:
- 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 taking 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?