Spina bifida guide

24/09/2022

Icon editWhat is spina bifida?

Spina bifida, a Latin term meaning "split spine," is a congenital disability that occurs when part of a child's spine does not form properly.

What is spina bifida?The neural tube begins to form early in pregnancy and closes about 4 weeks after conception. Spina bifida happens when the spinal cord or brain does not fully develop. It can appear anywhere along the spine and is usually seen at birth. The split may arise as a sac of fluid that has grown outside of the body on the spine.

There are three main types of this disease:

  • Occult - often called a hidden spina bifida, as the spinal cord and nerves are usually not changed, and there is no opening on the back. In this form, there is only a minor defect or gap in the small bones (vertebrae), which happens in about 12% of the population. Commonly, spina bifida occulta is so mild that it does not cause spinal dysfunction. Consequently, most people do not know that they have a hidden cleft. However, 1 in 1,000 people will be diagnosed with the condition that results in neurological damage or disability, such as bowel or bladder dysfunction, back pain, leg weakness, or scoliosis.
  • Meningocele - occurs when the bones do not close around the spinal cord, and the meninges are pushed through the opening, causing a fluid-filled sac to form. The spinal cord and the nerves are frequently normal or not severely affected. However, the pouch is often covered with skin and may require surgery. It is the rarest type of spina bifida.
  • Myelomeningocele includes about 75% of all cases. It is the most severe form of the disease, in which part of the spinal cord protrudes through the back. In some cases, the pouches are covered with skin, but tissues and nerves may be exposed in other cases.

Spina bifida is the most typical congenital disability leading to permanent disability. The Spina Bifida Association estimates that genetic and environmental factors may work together to cause the condition. At the same time, 95% of affected children are born to parents without a family history.

Icon microscopeDiagnostic tests

A spinal defect can cause a wide range of symptoms, including movement disorders, bladder and bowel problems, and fluid issues in the brain.

The severity of symptoms varies greatly and depends on the location of the tear in the spine. A gap in the upper part is more likely to cause leg paralysis and mobility difficulties. Gaps in the middle or at the base are often just incontinence problems.

The ilness can be diagnosed even during pregnancy or immediately after the birth of a child. Spina bifida occulta might be diagnosed in late childhood or may never be diagnosed at all. The disease can usually be detected in the fetus (in the womb during pregnancy) with the following tests:

  • Blood test - carried out from the 16th to the 18th week of pregnancy. This screening checks the amount of AFP (alpha-fetoprotein) in the blood. The number is higher in women carrying a baby with spina bifida.
  • Ultrasound - problems with the spine can be detected using imaging.
  • Amniocentesis - fluid is removed from the uterus through a tube to check protein levels.

Icon doctorTreatment methods

A child born with spina bifida must be treated to prevent further damage and infection. The neurosurgeon places the nerve tissue back into the spinal canal and then sutures the muscles and skin. A plastic surgeon may step in if a large area is difficult to close. Currently, such an operation is most often performed within the first 48 hours of a child's life.

About 80-90% of children develop hydrocephalus, a condition in which excess cerebrospinal fluid accumulates in the brain's ventricles and can increase intracranial pressure. Most of these children will need a ventricular shunt to control the accumulation of cerebrospinal fluid. The shunt remains in place throughout a person's life.

Even after spine surgery, some symptoms or disabilities may remain and need to be monitored depending on the severity of each sign. Paralysis, bowel and bladder problems usually persist throughout life. Treatment for remaining symptoms may include:

  • additional operations;
  • medicines;
  • physiotherapy;
  • rehabilitation.

Regular physical activity is essential for everyone, especially those with conditions that affect mobility, such as spina bifida. In addition, rehabilitation significantly improves the condition of patients after spinal surgery.

Icon plusNew treatments options

The disease requires surgery to close the spine and stop damage to the exposed nerves. With the help of remarkable medical innovations, the most common form of spina bifida can be treated prenatally (before birth) with a minimally-invasive surgical procedure. Until recently, the only type of prenatal repair was open fetal surgery, which requires an incision in the mother's lower abdomen and an additional incision in the uterus to detect a defect in the spine. However, recent surgical advances now allow the spine to be reconstructed with a less invasive technique: fetoscopic plasty, which does not require a large incision in the uterus. This procedure reduces the risks associated with open fetal surgery, such as uterine rupture.

Whether the operation is open or fetoscopic, prenatal correction is done before the 26th week of pregnancy. The mother and child are under general anaesthesia for both procedures, so the doctor can operate on them simultaneously.

  • The surgeon makes a horizontal incision in the mother's lower abdomen during the open procedure. Then, using an ultrasound image, the surgical team creates a safe incision in the uterus, exposing the baby's spinal defect. Seeing the child's back, surgeons remove the bag, if there is one, and then close the defect.
  • During a fetoscopic procedure, a similar incision is made in the mother's abdomen to expose the uterus. Then, guided by ultrasound images, long, thin tubes are inserted into the uterus at the site of a tear in the baby's spine. Using tiny surgical instruments, including miniature cameras, surgeons repair a tear in a child's spine. This method eliminates the need for a large incision in the uterus and reduces the chance of complications for the mother. Once the closure is complete, the tubes are removed, and the incision in the mother's abdomen is closed.

These complex procedures require an extensive and skilled clinical team, including pediatric surgeons, neurosurgeons, maternal and fetal health professionals, and anesthesiologists.

Icon chartStatistics and prognosis

The statistics on spina bifida are such that for every 10,000 newborns, 3 babies are born with this disease. According to the Centers for Research and Prevention of Birth Defects in the United States, 14% of children born with myelomeningocele die before the age of 5 years, mainly due to complications of a herniated hindbrain. In addition, many patients require shunting (85%), and 45% of shunts develop complications within one year.

A study conducted in Poland is very revealing for comparison of treatment methods. This analysis aimed to study the results of intrauterine myelomeningocele repair with the data of newborns and infants in the postnatal (after birth) period. The need for shunt implantation arose in 27.8% of patients operated on in utero. After postnatal surgery (after childbirth), 80% required shunting in the future. Intrauterine surgery significantly reduces the further evolution of the disease.

Statistics and prognosis

AiroMedical specialists are ready to help and provide the proper medical care, enabling many children with spina bifida to lead active and effective lives. With the latest advances known to us, their prospects continue to improve.

References:

  1. NIH: Comparison of prenatal and postnatal treatments of spina bifida in Poland--a non-randomized, single-centre study
  2. Children’s Minnesota: What is spina bifida? Spina bifida treatment at Midwest Fetal Care Center
  3. American Association of Neurological Surgeons: Spina Bifida
  4. NHS: Treatment-Spina Bifida
  5. National Center on Birth Defects and Developmental Disabilities: Centers for Birth Defects Research and Prevention