Spina Bifida A Comprehensive Guide to Causes, Symptoms, and Treatment
What is Spina Bifida?
Spina bifida is one of the most common birth defects worldwide. It occurs due to the incomplete development of the spinal column in the fetus during the first month of pregnancy. The term “spina bifida” means “split spine,” and this condition is usually apparent at birth.
Spina bifida occurs within the first 28 days of pregnancy, often before the woman knows she is pregnant. It is a type of neural tube defect (NTD).
This condition can be frightening, and some types of spina bifida are extremely severe.
However, it is important to know that the condition varies greatly in severity. Most cases are very mild, showing no symptoms and requiring no treatment (this is known as spina bifida occulta).
However, children born with a more severe form of this disorder have open lesions on their spine, where significant nerve and spinal cord damage occurs.
What are the Types of Spina Bifida?
There are three main types of spina bifida:
Spina Bifida Occulta
Spina bifida occulta is the mildest and most common form of this disorder. It usually involves a very small part of the spine; it often shows no symptoms and does not require treatment.
When a child is born with spina bifida occulta, the skin covers the spinal bone deformity.
The term “occulta” literally means “hidden spot in the spine,” and for many people with this type of spina bifida, the spot remains hidden.
However, in some individuals, the skin covering the bone defect may show slight changes, such as a small gap, red or purple discoloration, or a tuft of hair.
Spina bifida occulta rarely causes problems as the child grows into adolescence. At this stage, the spinal cord may become tethered to the spine.
As adolescent growth spurts occur, the nerves in the spinal cord may stretch, resulting in difficulties such as leg weakness and numbness, bladder infections, and incontinence (loss of bladder and bowel control).
The more the spinal cord stretches, the worse the symptoms become. Surgery to relieve these symptoms by reducing tension on the spinal cord is simple and often successful.
Meningocele
This is the least common type of spina bifida, where the meninges (the membrane surrounding the spinal cord) protrude through an opening, forming a sac or cyst on the back.
More severe than spina bifida occulta, meningocele can be repaired through surgery with little or no nerve damage.
Surgery is performed anytime during infancy. In cases of meningocele, the spinal cord develops normally and remains undamaged, so the child does not experience neurological problems.
Myelomeningocele
Myelomeningocele is the most severe form of spina bifida, occurring in approximately one in every 1,000 births. For infants born with myelomeningocele, the spinal cord does not form properly, and part of the undeveloped cord protrudes through the back. The protruding cord is surrounded by a sac containing cerebrospinal fluid and blood vessels, which is usually not covered by skin, leaving the nerves and tissue exposed.
Between 70% and 90% of children born with myelomeningocele also suffer from hydrocephalus due to a defect at the base of the skull (Chiari malformation). Hydrocephalus is an excessive accumulation of cerebrospinal fluid on the brain, leading to brain damage, seizures, or blindness if left untreated. To avoid this, plastic shunts must be surgically inserted under the skin to drain excess fluid into the abdominal cavity.
Children born with myelomeningocele often experience paralysis or weakness below the level of the spinal lesion. This affects the lower limbs along with problems in bladder and bowel function. In extreme cases, the trunk and upper limbs may also be involved.
Spina Bifida in Adults
Adults with spina bifida face different challenges than children, including:
- The natural aging process, which includes loss of muscle strength and flexibility, decreased physical ability, and deteriorating sensory capabilities. These symptoms tend to worsen more quickly or are more severe in adults with spina bifida.
- Tethered spinal cord, where the spinal cord becomes attached to surrounding tissue, causing symptoms such as skin ulcers, rapidly progressing scoliosis, loss of sensation, pain (especially in the lower limbs or testes), and urinary tract infections or leakage.
- Changes in bowel patterns, including constipation or abdominal pain.
- Bone problems such as osteoporosis, early onset arthritis, and advanced back pain.
- Loss of skin sensation and poor circulation, inability to sweat, bruising, and slow wound healing.
- Latex allergy.
- High blood pressure.
- Obstructive and central sleep apnea, which can lead to long-term heart damage.
- Adults with spina bifida tend to have higher obesity rates.
- Women with spina bifida can become pregnant, but their condition may make pregnancy more complicated.
What Causes Spina Bifida?
The exact cause of spina bifida is unknown, but several factors can increase the risk of a child developing this condition.
Folic Acid Deficiency
Not getting enough folic acid during pregnancy is one of the most significant factors that can increase the chances of having a child with spina bifida.
Folic acid (also known as vitamin B9) is naturally found in certain foods like broccoli, peas, and brown rice. It is also added to some foods, such as certain breakfast cereals.
It is estimated that taking folic acid supplements before and during pregnancy can prevent up to 7 out of 10 cases of neural tube defects, such as spina bifida.
It is unclear how folic acid helps prevent spina bifida, but it is likely essential for important biochemical reactions in the body.
Family History
Having a family member with a neural tube defect, such as spina bifida, increases your chances of having a child with spina bifida.
If you have had a previous child with spina bifida, your chances of having another child with the condition increase.
If you have a family history of spina bifida, it is very important to take a high dose of folic acid prescribed by a doctor before becoming pregnant and for at least the first 12 weeks of pregnancy.
Medications
Taking certain medications during pregnancy is associated with an increased risk of having a child with spina bifida or other birth defects.
Valproate and carbamazepine are medications linked to spina bifida. They are often used to treat epilepsy and certain mental health conditions, such as bipolar disorder.
Doctors will try to avoid prescribing these medications if there is a chance of becoming pregnant while taking them, but they may be necessary if alternatives are ineffective.
It is recommended to use reliable contraception if you need to take one of these medications and are not trying to become pregnant.
Tell your doctor if you are considering trying to get pregnant and need to take one of these medications. They may be able to lower the dose and prescribe a higher-than-usual dose of folic acid supplements to reduce the risk of problems.
If you are unsure whether a medication may affect your pregnancy, check with your doctor, midwife, or pharmacist before taking it. Do not stop taking a prescribed medication unless advised by a general practitioner or another healthcare provider responsible for your care.
Genetic Conditions
Rarely, a child with spina bifida may have a genetic condition such as Patau syndrome, Edwards syndrome, or Down syndrome.
If your child is diagnosed with spina bifida and it is suspected they may also have one of these syndromes, you will be offered diagnostic testing, such as amniocentesis or chorionic villus sampling. These tests can confirm whether your child has one of these genetic conditions.
Other Risk Factors
Other risk factors for spina bifida include:
- Obesity: Women who are obese (with a body mass index of 30 or higher) are more likely to have a child with spina bifida than women of normal weight.
- Diabetes: Women with diabetes may face an increased risk of having a child with spina bifida.
Can Spina Bifida be Prevented Before and During Pregnancy?
Although there is no known cause, experts believe that spina bifida can be avoided through some simple measures:
Folic acid, a water-soluble B vitamin found primarily in green leafy vegetables, plays a significant role in preventing spina bifida. During childbearing years, women should take a vitamin containing 400 micrograms (0.4 mg) of folic acid daily. Some studies suggest that women taking this dose of folic acid can reduce the occurrence of spina bifida by up to 75%.
- Inform your doctor if you are taking any prescription or over-the-counter medications, herbal supplements, dietary supplements, and vitamins.
- Treat any fever immediately using acetaminophen available in stores or by its brand name Tylenol.
- Avoid using hot tubs or saunas that overheat your body.
- If you have diabetes or obesity, make sure to do your best to manage these conditions during pregnancy.
What is the Prognosis for People with Spina Bifida?
The types of spina bifida range from mild to severe. Some people may not feel any effects at all, while others may face mobility and educational development limitations. It all depends on the individual case and the medical condition present at birth.
Help is available for all children affected by spina bifida, and with proper care, most can lead active lives.
Diagnosis of Spina Bifida
In most cases, spina bifida is diagnosed before birth (prenatal diagnosis). However, some mild cases may go unnoticed until after birth (postnatal diagnosis). Very mild forms of spina bifida are discovered when tests are performed for other conditions or may never be detected.
Prenatal Diagnosis The most common screening methods to check for spina bifida during pregnancy are maternal serum alpha-fetoprotein (MSAFP) screening and fetal ultrasound. The doctor may also perform an amniocentesis test.
Maternal Serum Alpha-Fetoprotein (MSAFP): At 16 to 18 weeks of pregnancy (second trimester), a sample of the mother’s blood is taken to measure the level of a protein called alpha-fetoprotein (AFP), which is naturally produced by the fetus and placenta. Signs of spina bifida do not appear until the second trimester.
During pregnancy, a small amount of AFP crosses the placenta and enters the mother’s bloodstream. Abnormally high levels of AFP may indicate—but not necessarily confirm—that the fetus has spina bifida or another neural tube defect. If a high AFP level is detected, the doctor may request additional tests, such as ultrasound or amniocentesis.
This test is not specific to spina bifida. MSAFP screening can be performed separately or as part of a larger screening that includes multiple markers to check for neural tube defects and other birth defects, including Down syndrome and other chromosomal abnormalities.
- Ultrasound: High-frequency sound waves are used to create an image of the developing baby inside the womb. It is very accurate in diagnosing certain birth defects during pregnancy, including spina bifida. Fetal ultrasound can be performed during the first trimester (usually between 11 to 14 weeks) and the second trimester (usually between 18 to 22 weeks), but diagnosis is more accurate during the second trimester.
- Amniocentesis: A sample of amniotic fluid surrounding the fetus is taken and tested for levels of proteins that may indicate a neural tube defect or genetic disorder.
- Postnatal Diagnosis Closed neural tube defects are often detected at birth due to the presence of an abnormal fatty mass, tuft or clump of hair, small dimple, or birthmark on the skin over the site of the spinal deformity. Spina bifida occulta is usually discovered when an X-ray is performed for other reasons.
In rare cases, myelomeningocele and meningocele may not be diagnosed during routine prenatal tests. The child will be diagnosed at birth if there is a bubble on their back. Children with myelomeningocele and closed neural tube defects may experience muscle weakness in their feet, hips, and legs, leading to joint deformities first noticed at birth.
Mild cases of spina bifida (occulta and closed neural tube defects) that were not diagnosed during prenatal tests can be detected after birth using ultrasound or X-ray imaging to examine the spine.
Doctors may use magnetic resonance imaging (MRI) or computed tomography (CT) to obtain a clearer picture of the spinal cord and vertebrae. To assess the presence of hydrocephalus, the doctor will request an ultrasound of the head or CT or MRI scan to check for excessive cerebrospinal fluid within the brain.
Treatment of Spina Bifida
Treatment depends on the type of spina bifida. Myelomeningocele and meningocele require surgery to close the bubble shortly after birth to prevent infections like meningitis. Most individuals with myelomeningocele have hydrocephalus, and most will require a shunt to be placed during childhood.
Children with closed neural tube defects may need surgery to prevent further complications such as weakness and bladder and bowel function issues. Generally, individuals with spina bifida occulta do not require any treatment.
Prenatal Surgery
Prenatal surgery involves opening the mother’s abdomen and uterus and stitching the abnormal opening over the baby’s developing spinal cord until it is closed. This can protect the baby’s spinal cord from further damage in the womb.
A study showed that prenatal surgery to close the defect in the spinal cord improved outcomes compared to babies who underwent postnatal surgery for spina bifida.
Prenatal surgery reduced the need for fluid drainage from the brain, improved mobility, and increased the chances that the child could walk independently at an early age.
Prenatal surgery does not restore lost nerve function but may prevent further damage during the remainder of the pregnancy. Prenatal surgery involves some risks to the fetus and the mother.
Postnatal Surgery
In treating myelomeningocele and meningocele, a baby who did not have prenatal surgery will undergo surgery within the first few days of life to close the defect and reduce the risk of infection or further trauma to the exposed nerves and spinal cord.
Tethered cord syndrome can be treated with surgery to help prevent further neurological deterioration.
Treatment of Complications
Some children with myelomeningocele and closed neural tube defects may require surgery to improve the alignment of their feet, legs, or spine.
Children with myelomeningocele often have hydrocephalus and may need surgery to help drain fluid from the brain, such as placing a shunt or ETV. Shunts may require multiple surgeries to replace them if they become blocked, infected, or broken.
Some individuals with myelomeningocele or closed neural tube defects may need assistive devices for mobility, such as:
- Braces
- Walkers
- Crutches
- Wheelchairs
Children with myelomeningocele usually experience some delay in mobility, so they are referred to physical therapists early on to maximize their strength and function.
Treatment for bladder and bowel function usually begins shortly after birth. Children with myelomeningocele and some closed neural tube defects have damage to the lower spinal nerves that control bowel and bladder function.
The kidneys are closely monitored so that medications or surgeries can be performed to prevent kidney failure. Close follow-up with a specialized spina bifida clinic is recommended to develop a safe bowel and bladder program.
Folic Acid
Folic acid is an important vitamin for the development of a healthy fetus. Although taking this vitamin cannot guarantee the birth of a healthy child, it can help. Studies show that women of childbearing age who add folic acid to their diet can significantly reduce the risk of having a child with a neural tube defect. Doctors recommend that all women of childbearing age take a daily vitamin supplement containing 400 micrograms of folic acid before and during early pregnancy.
Women who already have a child with spina bifida, have spina bifida themselves, or have had a pregnancy affected by any neural tube defect are at greater risk of having another child with a neural tube defect. They should take a higher prescription dose of folic acid before and during early pregnancy.
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