Spina bifida

Symptoms & causes Diagnosis & treatment Doctors & departments Care at Vejthani

Overview

Spina bifida is a type of birth defect in which the spine and spinal cord fail to develop correctly during the first month of pregnancy. The embryonic structure known as the neural tube is where the baby’s brain, spinal cord, and the tissues that surround them eventually develop.
Spina bifida affects babies by affecting the closure or development of a section of the neural tube, which results in issues with the spinal cord and the spine’s bones.
Different types of spina bifida includes:

Spina bifida occulta: Spina bifida occulta is a common and typically mild type of the condition, where one or more bones of the spine are slightly separated or have a small gap, but the skin covers the deformity. Many people with spina bifida occulta are unaware of their condition unless it’s detected incidentally on an imaging test performed for another reason. Spina bifida occulta usually only affects a small area of the spine, is asymptomatic, and typically does not require treatment.
Meningocele: Meningocele is a rare type of spina bifida that is characterized by a sac of spinal fluid bulging through an opening in the spine. The meninges, or the membrane surrounding the spinal cord, protrude through the opening, causing a lump or sac on the back. Although it’s more severe than spina bifida occulta, meningocele can be repaired through surgery with little or no nerve damage resulting. The surgery can be performed at any time during infancy, and the spinal cord is typically undamaged, meaning that the child has no neurological problems. While babies with meningocele may experience some minor problems with functioning, such as issues with bladder and bowel control, they generally have good outcomes with appropriate treatment.
Myelomeningocele: Myelomeningocele, also known as open spina bifida, is the most severe form of spina bifida, affecting nearly 1 in every 1,000 live births. In this condition, the spinal canal is open in the lower or middle back, causing the spinal nerves and membranes to protrude through the opening and form a sac on the baby’s back. This sac is typically not covered by skin, which exposes the nerves and tissues, making the baby vulnerable to life-threatening infections. Infants with myelomeningocele often develop hydrocephalus, which is caused by a defect at the base of the skull, known as Chiari malformation. Hydrocephalus refers to the accumulation of excess spinal fluid in the brain, which can result in severe damage to the brain, seizures, or blindness if left untreated. The recommended treatment for hydrocephalus involves the surgical insertion of plastic shunts beneath the skin, which can effectively drain the excess fluid into the abdominal cavity.

The severity of spina bifida can vary depending on factors such as the size, location, and type of defect, as well as any associated complications. While surgery can repair the spinal opening, if the nerve damage is not addressed, permanent disability may still occur. This condition is most found in the lower back or further down the spine.

Symptoms

Spina bifida signs and symptoms differ depending on the type, the severity, and the condition.

Spina bifida occulta: Spina bifida occulta usually does not result in any signs or symptoms as it does not impact the spinal nerves. However, there may be some visible indicators on the newborn’s skin just above the affected area, such as a small dimple, a patch of hair, or a birthmark. These skin abnormalities may suggest a spinal cord problem, which can be diagnosed through a magnetic resonance imaging (MRI) or spinal ultrasonography.
Meningocele: Bladder and bowel function may be affected by this type.
Myelomeningocele: This severe form of spina bifida is characterized by the spinal canal remaining open along multiple vertebrae in the lower or middle back. At birth, both the membranes and the spinal cord or nerves protrude, resulting in the formation of a sac. Typically, the tissues and nerves within the sac are visible, although in some cases, the sac may be covered by skin.

Myelomeningocele is commonly detected before or shortly after birth when treatment is readily available. A specialist team of healthcare providers should monitor children with this condition for the rest of their lives. Children diagnosed with this condition require ongoing monitoring by a specialized healthcare team, who will educate families on the various concerns to watch for throughout their lives. Since symptoms and problems are uncommon in children with spina bifida occulta, standard pediatric treatment is usually all that is required.

Causes

Despite ongoing research, the exact cause of spina bifida remains unknown, but some of the primary causes are believed to be a result of genetic, nutritional, and environmental factors. Examples of factors that might increase the risk of spina bifida include a family history of neural tube defects and a deficiency in vitamin B-9 (folate).

Risk factors

Despite the fact that there is no known cause for spina bifida, doctors and researchers have identified numerous risk factors. The following increases the risk in developing spina bifida.

Family history of neural tube defects: The chances of having another child with the same issue are slightly greater for couples who have already had one child with a neural tube defect. If the condition has previously affected two children, the chance rises. A woman who was born with a neural tube defect has a higher chance of giving birth to a child who has spina bifida than a woman who has no history. The majority of spina bifida patients are, however, born to parents who have no known history of the disorder.
Gender: Females are more affected than males.
Race: Spina bifida appears to be more common among individuals of European and Hispanic descent, compared to other ethnic groups.
Folate deficiency: The development of a healthy fetus requires an adequate supply of folate, which is the natural form of vitamin B-9. Folic acid, the synthetic form of folate found in fortified foods and supplements, can also contribute to meeting the body’s folate needs. Insufficient folate intake is a known risk factor for neural tube defects, including spina bifida.
Medications: During pregnancy, anti-seizure drugs such as valproic acid appears to result in neural tube abnormalities. They may prevent the body from using folic acid and folate.
Other diseases: A baby born to an obese or diabetic mother who has poorly managed blood sugar is more likely to have spina bifida.
Hyperthermia: During the first few weeks of pregnancy may raise the incidence of spina bifida. Spina bifida risk has been found to be marginally elevated in association with increases in core body temperature brought on by fever or usage of a sauna or hot tub.

It is advisable to inform the healthcare provider if you are using any drugs. Planning ahead may allow them to change some medications to reduce their risk of developing spina bifida.
It is also advisable for individuals who are aware of the risk factors for spina bifida to consult with their healthcare provider before getting pregnant to determine if they need a higher or prescription dose of folic acid.

Diagnosis

Prenatal screening tests are available to detect spina bifida and other birth defects during pregnancy. A positive blood test result typically means the baby does not have spina bifida, but there is still a small chance of the condition being present even if the test is negative.

Blood tests: While maternal blood tests can screen for spina bifida, the condition is typically diagnosed using ultrasound.
- Maternal serum alpha-fetoprotein (MSAFP) test: A test called the maternal serum alpha-fetoprotein (MSAFP) test can be done to screen for spina bifida during pregnancy. This test involves taking a blood sample from the mother and testing it for a protein called alpha-fetoprotein (AFP), which is produced by the baby. Normally, a small amount of AFP crosses the placenta and enters the mother’s bloodstream. However, abnormally high levels of AFP in the mother’s blood may suggest that the baby has a neural tube defect, such as spina bifida. It is important to note, however, that not all cases of spina bifida will show high levels of AFP on this test. (1)
- AFP levels test: To confirm high levels of AFP, a test may be conducted. However, other factors such as miscalculation in fetal age or the presence of multiple babies can cause varying levels of AFP. In such cases, the doctor may require a follow-up blood test for verification. If the results of the follow-up test also indicate high levels of AFP, further evaluation, including an ultrasound exam, will be necessary.
- Other blood tests: The MSAFP test may be combined with two or three other blood tests. These tests are sometimes administered in combination with the MSAFP test, although their goal is to screen for other diseases, including as trisomy 21 (Down syndrome), rather than neural tube abnormalities.
Ultrasound: Fetal ultrasound is the most precise method for detecting spina bifida in an unborn baby prior to delivery. This procedure can be carried out during the first trimester (between weeks 11 and 14) or the second trimester (between weeks 18 and 22) of pregnancy. The second-trimester ultrasound is particularly effective in identifying spina bifida and excluding other congenital abnormalities. Using advanced ultrasound techniques, it is possible to identify spina bifida-related indications such as an exposed spinal cord or specific abnormalities in the baby’s brain. Additionally, ultrasound can be used by a trained specialist to evaluate the severity of spina bifida.
Amniocentesis: If the spina bifida is confirmed by prenatal ultrasound, amniocentesis is recommended. Amniocentesis involves using a needle to take a sample of fluid from the amniotic sac surrounding the unborn child. It is important to discuss the risks of amniocentesis, including a small chance of miscarriage. Although spina bifida is rarely associated with hereditary illnesses, this test may be necessary to rule them out.

Treatment

The appropriate treatment for spina bifida is determined by the severity of the condition. Mild forms of spina bifida may be addressed through therapy, while spina bifida occulta usually does not require any treatment. Unfortunately, for more severe types of spina bifida that result in nerve damage, treatment options are available but they cannot provide a cure.

Prenatal treatment

Untreated spina bifida in infants can lead to a decline in nerve function after birth. To prevent this, fetal surgery or prenatal surgery can be performed before the 26th week of pregnancy. The surgical procedure involves surgically exposing the uterus of the expectant mother, opening it, and repairing the baby’s spinal cord. In some cases, the surgery can be performed with a fetoscope, a specialized surgical tool that is inserted into the uterus to minimize invasiveness.

According to research, children diagnosed with spina bifida who undergo fetal surgery may experience reduced disability and have a lower likelihood of requiring crutches or other walking aids. Additionally, this surgical procedure may decrease the risk of hydrocephalus. It is advisable to consult with your doctor to determine whether this procedure is appropriate for your child. The potential benefits and risks, such as possible premature delivery and other complications, should be discussed in detail.

A comprehensive evaluation is essential to ascertain the feasibility of fetal surgery. This type of specialized surgery should only be performed at a healthcare facility that has a team of experienced fetal surgery experts who take a multispecialty approach and have access to neonatal intensive care. Typically, the team includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist, and neonatologist.

Cesarean delivery

Infants with myelomeningocele are frequently positioned in a breech position. In the case of a large cyst or sac being detected, a cesarean delivery might be considered a safer option for delivery.

Surgical after birth

Surgery is necessary within 72 hours of birth to close the opening in a baby’s back caused by myelomeningocele. Early surgical intervention can help reduce the likelihood of infection, which is a common risk associated with exposed nerves. Additionally, it may help safeguard the spinal cord from further injury. The surgical procedure involves a neurosurgeon carefully repositioning the spinal cord and exposed tissue inside the baby’s body, which is then covered with muscle and skin. Simultaneously, the neurosurgeon may also insert a shunt in the baby’s brain to manage hydrocephalus.

Treatment complication

A multidisciplinary team of surgeons and therapists is required to provide continuous care for infants with myelomeningocele, as permanent nerve damage may have occurred in these infants. As a result of various complications, babies with myelomeningocele could require additional surgery. Treatment for complications, such as weak legs, bladder and bowel issues, or hydrocephalus, frequently starts soon after birth. The following treatments are possible for spina bifida, depending on its severity and any complications, treatment options may include:

Walking and mobility treatment:  To prepare for walking with braces or crutches in the future, some babies may start exercising. Some children may need the use of a wheelchair or walker. With regular physical therapy and the use of mobility aids, a child can develop independence and self-sufficiency. Children who use wheelchairs can also become highly proficient in their operation and can achieve independence as well.
Bowel and bladder treatment: Regular assessments and management plans for the bowel and bladder help lower the risk of disease and organ damage. X-rays, renal scans, ultrasounds, blood tests, and examinations of bladder function are among the evaluations. These assessments will happen more frequently in a child’s first few years of life but less frequently as they get older. Oral medicines, suppositories, enemas, surgery, or a combination of these methods may be used for bowel management, and medications, inserting catheters to drain the bladder, surgery, or a combination of procedures may all be used in bladder management.
Hydrocephalus treatment: A surgically implanted tube that permits brain fluid to drain into the abdomen is required for the majority of infants with myelomeningocele. This tube may be inserted immediately following birth, during the procedure to close the sac on the lower back, or at a later time if fluid builds up.

For individuals who are suitable candidates, endoscopic third ventriculostomy is a less invasive technique that may be considered. However, it is important to carefully select candidates and ensure they meet a number of requirements. The surgeon creates a hole in the base of the ventricles or between them during the procedure so that cerebrospinal fluid can drain from the brain, while viewing the inside of the brain with a small video camera.

Other complications management: Spina bifida can present several complications, including orthopedic issues, tethered spinal cord, gastrointestinal problems, and skin conditions, among others. However, the use of specialized equipment such as bath chairs, commode chairs, and standing frames can help individuals with spina bifida perform daily activities. Fortunately, most complications associated with this condition can be managed or treated, leading to a better quality of life for those affected.

Ongoing care

Children with spina bifida require vigilant monitoring and continuous medical attention. In addition to overseeing their growth, administering vaccinations, and addressing general health concerns, their primary care physicians must also coordinate their medical care.

Moreover, children with spina bifida often necessitate treatment and ongoing care from a team of healthcare professionals, such as physical medicine and rehabilitation specialists, neurologists, neurosurgeons, urologists, orthopedists, physical therapists, occupational therapists, special education teachers, social workers, and dietitians.

The involvement of parents and other caregivers is crucial in this team effort. They play an essential role in learning how to manage their child’s condition and providing emotional and social support to their child.

Diseases & Conditions Spina bifida