What’s wrong with your baby’s back?
You’re pregnant and in your second trimester, so you’re going for an ultrasound to make sure that your baby is developing appropriately. After the ultrasound, your doctor informs you that it looks like your baby has spina bifida. What is this? How serious is it? Can it be fixed? What does that mean for your baby’s future?
Spina bifida is a type of birth defect called a neural tube defect, which means that the baby’s spine and spinal cord don’t form properly. In an embryo, the neural tube is the part of the structure that becomes the baby’s brain, spinal cord and tissues that enclose them. Usually it forms early in the pregnancy and closes by the 28th day after conception. For babies with spina bifida, part of the neural tube doesn’t close or develop correctly. This can cause defects in the spinal cord and the vertebra (bones of the spine). The disability can range from mild to severe depending on the type of defect, size, location and complications. The cause of spina bifida isn’t known, but thought to be related to a combination of factors, such as genetics, nutrition and environment. The two biggest risk factors are a family history of neural tube defects and a folate deficiency in the mother prior to and during pregnancy. Family history is if a mother had spina bifida as a child or if a couple has an older child with the disorder. Folate is the natural form of vitamin B-9 and its synthetic form it’s called folic acid. The disorder is more common among whites and Hispanics and females are more likely to be affected than males.
There are several types of spina bifida, including spina bifida occulta, myelomeningocele and meningocele (this type is extremely rare). Spina bifida occulta is the most common and mildest type. It’s the result of a small separation in one or more of the vertebrae. Often, people with this type don’t even know that they have it unless they’re having imaging tests done for something else and it is found. Myelomeningocele is the most severe type. It’s also known as open spina bifida because the spinal canal is open along several vertebrae. Typically, this is in the lower or middle back. This opening results in the membranes and spinal nerves being pushed through this opening forming a sac on the baby’s back. The exposure of tissue and nerves makes the baby at increased risk for life-threatening infections and can result in paralysis and bowel/bladder dysfunction.
Symptoms vary significantly depending on type and the individual. For those with spina bifida occulta there aren’t usually symptoms since the spinal nerves aren’t involved. Sometimes, these individuals are born with an abnormal tuft of hair, a small dimple or a birthmark in the area of the skin above the defect. With myelomeningocele, there is a distinct opening in the infant’s back. Sometimes, there is a sac where the tissues and nerves have pushed through the opening. There may or may not be skin covering the sac.
Besides family history of neural tube defects and folate deficiency, there are several other risk factors. Certain medications, such as anti-seizure medications, can cause defects to occur because they interfere with the body’s ability to use folate/folic acid. Women who have diabetes that isn’t well controlled are also at increased risk of having a child with spina bifida. Another factor that can raise the chances is having pre-pregnancy obesity. There have been some studies that indicate having an elevated body temperature during the first few weeks of pregnancy can escalate the risk of spina bifida. If you have any risk factors, it’s vital to talk to your doctor before becoming pregnant. They can help you to figure out a way to have a safe and healthy pregnancy.
Similar to symptoms, complications depend on the type. Individuals with spina bifida occulta usually don’t have any complications. For those with myelomeningocele, there are a wide variety of complications that can occur. Most likely, your child won’t have all of them and the majority of them can be treated. Since the nerves that control the leg muscles often don’t work properly, it’s common for these individuals to have muscle weakness or paralysis in their legs. They can also have other orthopedic issues, such as scoliosis, abnormal growth, dislocations of their hips, bone/joint deformities and muscle contractures. Since the nerves for bowel/bladder control come from the lowest level of the spinal cord, the ability for these to function are often impacted as well. Babies with this type of spina bifida are at high risk for developing hydrocephalus, which is accumulation of fluid in the brain. This is usually treated by placing a shunt that diverts the fluid from the brain into the child’s abdomen, which can have its own problems if it stops working, such as headaches, vomiting, sleepiness, irritability, swelling/redness along the shunt, confusion, changes in the child’s eyes, trouble feeding and seizures. A common brain abnormality is Chiari malformation type II, which is when the brainstem (the part of the brain that controls breathing, heart rate and other essential functions of life) becomes elongated and positioned lower than usual. Since it sits just above where the spinal cord meets the brain, it can cause issues with breathing and swallowing. Babies with spina bifida are at a higher risk of developing meningitis, which is an infection of the tissues surrounding the brain. In addition, these individuals are at an elevated risk of having sleeping disorders, like sleep apnea, and skin problems, such as wounds/ulcers on their feet since they can’t feel when they get injured. Also, children with spina bifida are at increased risk for Latex allergies, urinary tract infections (UTIs), gastrointestinal disorders, depression and learning disabilities. Sometimes, after surgery to fix spina bifida, the spinal nerves attach to the scar where the defect was closed, which means the spinal cord is less able to grow as the child does. This can lead to progressive loss of muscle function in the legs, bowel or bladder. This condition is called tethered spinal cord and requires further surgery to limit the disability it can cause.
While spina bifida can be diagnosed through blood tests, the most common method is via an ultrasound, especially when it’s done between the 18th and 22nd week of pregnancy. Treatment depends on severity. Spina bifida occulta doesn’t usually require any treatment. For myelomeningocele, your doctor might recommend doing surgery before birth. This takes place before the 26th week of pregnancy and involves a surgeon exposing the uterus, opening it and repairing the baby’s spinal cord before closing everything back up. Typically, there is a team of doctors present in order to make sure that everything goes smoothly. The team includes, a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist and neonatologist. Studies have shown that having this surgery reduces the disability that the child experiences and decreases the likelihood of hydrocephalus.
If your baby has a sac, particularly if it’s large, your doctor will recommend having a cesarean birth. Also, a good portion of the time, babies who have myelomeningoceles are in a breech position. So, by doing a cesarean birth, it’s easier and safer to get them out.
Sometimes, you or your baby aren’t candidates for having surgery done while the baby is still inside the uterus. This means that your baby will need to have surgery once they’re born in order to place the nerves and tissue inside their body. During this procedure, your baby’s surgeon may also place a shunt if your baby has hydrocephalus or there is concern that they may develop it.
In addition to treating the actual defect, your baby may need other forms of treatment to deal with any complications that they have. If a shunt wasn’t placed for hydrocephalus shortly after birth, then it might be put in if fluid starts to accumulate. In order to help prepare a child to walk, typically with braces or crutches, they’ll need to start physical therapy while they’re still babies to help improve muscle strength, so that they’ll be ready to use their legs when they’re older. Some individuals have to be in a wheelchair because their leg muscles are too weak. It’s helpful to have special equipment available that can make it easier for the person to function every day. Some examples of these devices are bath chairs, commode chairs and standing frames. It’s also essential to routinely evaluate and develop management plans to improve bowel and bladder function so that it decreases the risk of organ damage and illness. For bladder issues, this can include medications, catheters, surgery or a combination of these. For bowel problems, it’s oral medications, suppositories, enemas, surgery or a combination of the treatments.
It’s essential to note that children with spina bifida will need to have close follow-up care throughout their lives. Primary care doctors will deal with general medical issues and coordinate care among all of the specialists that need to be part in the care plan. This can include, but is not limited to, physical therapists, occupational therapists, neurologists, neurosurgeons, urologists, orthopedists, dietitians, special education teachers and social workers. The most important part of the care team are the child’s parents and other caregivers. It’s essential for them to learn how to manage the child’s condition and encourage/support them both emotionally and socially. Since most individuals with spina bifida can lead active and productive lives, its vital to promote independence as soon as possible in age appropriate ways. If you’re child has any learning disabilities or mental health issues, be sure to address them as you would any physical problems. It can be helpful for parents/caregivers to find a support group of others who are going through a similar situation.
There are ways to prevent spina bifida. The most important is to make sure you’re taking in enough folic acid before and during pregnancy. You want to increase your folic acid intake starting at least one month before and all the way through the first trimester (at a minimum). All women regardless of whether or not they’re trying to become pregnant should take 400 micrograms (mcg) of folic acid daily. For those who are planning on becoming pregnant, you should take in between 400 – 800mcg daily. Folic acid can be found in several types of foods, including enriched bread, pasta, rice and some breakfast cereals, beans/peas, citrus fruits/juices, egg yolks, milk, avocados and dark green vegetables (ex. broccoli and spinach). Despite having all these different food options, most women aren’t able to consume enough folic acid through their diet alone, so it’s recommended that you take a supplement. If you had spina bifida, have already given birth to a child with spina bifida or are taking anti-seizure medications, you should take in even more folic acid on daily basis than the recommended amount. Check with your doctor to find out the right dosage that will work best for you.
Finding out your child has spina bifida can be a devasting blow. The good news is there is a treatment for it and any complications that may arise. If you have any questions or concerns about spina bifida, please talk with your doctor. If you would like more information, please visit the Spina Bifida Association at https://www.spinabifidaassociation.org/