Babies with Spina Bifida

Babies with spina bifida have a birth defect in which the spine and the spinal cord are not formed properly. This neural tube defect occurs when the spine and spinal cord do not fully form.

The neural tube is an embryonic structure that develops into the baby's brain, spinal cord, and tissues. Generally, the neural tube will form very early in the pregnancy and will close up around the 28th week of pregnancy. In babies with spina bifida, neural tube effects impede the spine's ability to develop or close as it should.

Child with BottleSpinal bifida might cause physical and learning disabilities that range from mild to severe. The severity depends on the size, location, and whether the spinal cord and nerves are affected.  For more severe cases, the time and costs to care for the child can be overwhelming for parents.

Types of Spina Bifida

There are different types of spina bifida based on the severity, type of defect, size, location, and specific complications present in an individual case. The three most common types of spina bifida are:

  • Spina bifida occulta: sometimes called the hidden spina bifida, this is the mildest form of spina bifida. With this type, there is a small gap in the spine, but no opening or sac in the back. Most people that have spina bifida occulta are not even aware they have this condition because it usually does not cause any significant disabilities.
  • Meningocele: Meninges is a type of membrane that surrounds and protects the spinal cord. With this type of spina bifida, the meninges pushes through the opening in the vertebrae and forms a small sac filled with fluid. Although results in a visible sac in the back of the baby, parts of the spinal cord and nerves are not in the sac. Thus, there is little to no nerve damage with this type of spina bifida.
  • Myelomeningocele: also known as open spina bifida, myelomeningocele is the most common and severe form of spina bifida. In this type, the sac of fluid comes through an opening in the baby's back and parts of the spinal cord and nerves are actually on this sac and are damaged as a result. This type of spina bifida causes moderate to severe disabilities, including the inability to go to the bathroom, inability to walk, and lack of sensation in the hands and feet.

Spina bifida can be diagnosed during pregnancy or right after the baby is born. The mild forms of spina bifida, such as spina bifida occulta, might not be diagnosed until late childhood or adulthood.

During Pregnancy: During pregnancy, there are several different prenatal screening and diagnostic tests used to check for spina bifida and other birth defects.

  • Alpha-Fetoprotein (AFP): A blood test that measures how much AFP, a protein produced by the fetus, passes into the mother's bloodstream. A high level of AFP is a possible indication that the baby might have spina bifida.
  • Ultrasound: A common test that looks at the baby in the uterus with a picture. In some cases, the physician can see whether the baby has spina bifida through an ultrasound. The more severe types are more likely to be caught with this test.
  • Amniocentesis: The physician takes a small sample of the amniotic fluid surrounding the baby in the womb. If there are high levels of AFP in the fluid, it might mean that the baby has spina bifida.

After Birth: In some cases, the physician might not be able to diagnose the condition until after the baby is born. This could be because the mother failed to receive prenatal care or the condition failed to show up on the ultrasound. Regardless, after birth, there is often a hairy patch of skin or a dimple on the baby's back. The doctor will use an image scan, including an X-ray, MRI, or CT to get a clearer view of the newborn's spine and bones.

  • November 2019: New guidelines on the management of pediatric spina bifida from the Congress of Neurological Surgeons
Causes of Spinal Bifida

Doctors are uncertain what causes spina bifida. Similar to other birth defects, doctors believe both genetics and environmental factors play a role in causing these tube defects to occur in some babies. However, there are certain precautions women can take before and during pregnancy to lower the risk of having a baby with spina bifida. The precautions include:

  • Taking 400 micrograms of folic acid every day.
  • Checking with your doctor or pharmacist about any over-the-counter drugs, vitamins, and supplements you may take during pregnancy.
  • Making sure the doctor is aware of any medical conditions such as diabetes and obesity
  • Avoiding overheating and avoid things like hot tubs or saunas
  • Treating fevers immediately with Tylenol
Risk Factors

Spina bifida is a condition that is more common among the White and Hispanic populations. Exactly why and how it occurs in certain babies is not fully understood, but there are some risk factors, including:

  • Folate (Folic Acid) Deficiency: folic acid is important to the healthy development of a baby. A folate deficiency during pregnancy increases the risk of spina bifida and other neural tube defects.
  • Genetics: a genetic family history of neural tube defects in the family makes spina bifida more likely to occur
  • Certain medications: certain medications increase the risk of spina bifida such as anti-seizure medications
  • Diabetes: Diabetes and abnormal levels of sugar in the blood causes a higher risk of having a baby with spina bifida
  • Obesity: pre-pregnancy obesity is correlated with an increased risk of spina bifida and other neural defects.
  • Increased body temperature: there is evidence that hyperthermia or increased body temperature in the early weeks of pregnancy may risk the chance of spina bifida.
  • Environmental causes: drug use, pesticides, and chemical exposure have long been thought to be associated with spinal bifida but the literature suggests otherwise.

If any of these risk factors may be a problem for you, talk to your doctor and pharmacist to take the proper precautions that you can. But understand the cause of most spina bifida cases cannot be understood.  Parents reflexively blame themselves.  If you are a parent reading this, you are not to blame. Take a minute to digest that before you read on any further.

Treatment of Spinal Bifida

Not everyone with spina bifida requires the same treatment because the complications of the condition vary depending on the location and severity. For instance, people with myelomeningocele and meningocele will need more treatment than people with spina bifida. The most common treatment options for spina bifida include:

  • Surgery: often doctors will perform surgery to close the spine gap before the baby is born.  A new study came out in JAMA Pediatrics in February 2021 underscoring the promise of this procedure for patients with myelomeningocele. The study found that prenatal spinal bifida surgery gives children a greater likelihood of walking independently and traverse stairs than children who did not have the surgical procedure until after birth. Additionally, spina bifida can lead to other complications such as hydrocephalus (fluid in the brain) and tethered spinal cord. Spinal bifida surgery can sometimes correct these complications.
  • Physical therapy: severe spinal bifida can cause difficulty with walking and getting around. Physical therapy and training can help children with spina bifida to engage in daily normal activities.
  • Bowel and Bladder management: in some types of spina bifida, doctors will recommend routine bowel and bladder evaluations and management plans to help reduce the chance of organ damage and illness (recent article on estimating tracking renal function in spina bifida patients)
Certainly, the amount of treatment needed is directly proportional to the severity of the disease.
Spina Bifida Medical Literature

  • Mazzone L, et. al: Urological Outcome after Fetal Spina Bifida Repair: Data from the Zurich Cohort. Fetal Diagn Ther 2020;47:882-888. (This study looked at urological outcomes that followed a fetal spina bifida procedure. The researchers found that 55 out of 82 patients showed normal urodynamic studies. However, the researchers also found that 29 of the 55 developed neurogenic lower urinary tract dysfunction. The researchers concluded that their results confirmed prior studies that found that spina bifida repairs yielded positive urological outcomes. However, they also concluded that this benefit was limited.)
  • Wang, Y, et. al: Differences in Length of Stay and Costs Between Comparable Hospitalizations of Patients With Spina Bifida With or Without Pressure Injuries.  Arch Phys Med Rehabil.2019 Aug;100(8):1475-1481. (This study looked at the differences in hospital stay length and expenses between spina bifida patients with pressure injuries and those without. The researchers found that patients with pressure injuries had an average hospital stay was 24 percent longer than patients without. They also found that the average hospitalization cost was 10 percent higher. The researchers concluded that pressure injuries among spina bifida patients were associated with substantial morbidity.)
  • Alabi NB, et. al: Surgeries and Health Outcomes Among Patients With Spina Bifida. Pediatrics. 2018 Sep;142(3). (This study looked at the age breakdown of surgical procedures and health outcomes in spina bifida patients. The researchers found that the prevalence of incontinence and skin breakdowns increased with age. By contrast, they also found that the proportion of patients younger than 24 years old who underwent surgical procedures was lower than the proportion of patients 25 and older. The researchers concluded that this data helped them understand the different issues throughout a spina bifida patient’s lifespan.) 
  • Oakeshott, P, et. al: Neurological level at birth predicts survival to the mid-40s and urological deaths in open spina bifida: a complete prospective cohort study. Dev Med Child Neurol. 2015 Jul; 57(7): 634–638. (This study looked at the survival and urological death rates of patients treated for open spina bifida. The researchers found that sensory levels predicted urological life expectancy, while neurological levels better predicted outcomes than cutaneous or radiological levels. They also found that only babies with a T6-L1 sensory level experienced urological-related fatalities. The researchers concluded that healthcare professionals should assess the sensory levels of open spina bifida babies.)
  • Lapa, D. A., et al. Percutaneous fetoscopic spina bifida repair: effect on need for postnatal cerebrospinal fluid diversion, ambulation and bladder catheterization. Ultrasound in Obstetrics & Gynecology. 20 Apr 2021. (This study looked at the effectiveness of a prenatal fetoscopic myelomeningocele repair compared to a hysterotomy-assisted myelomeningocele repair. The researchers found that children who underwent a fetoscopic repair had similar long-term neurological outcomes compared to children who underwent a hysterotomy-assisted repair.) 
  • Milani, H.J.F., et al. Measurement of the Area and Circumference of the Leg: Preliminary Results of a New Method for Estimating Leg Muscle Trophism in Fetuses with Open Lumbosacral Spina Bifida. Journal of Ultrasound in Medicine. 01 Apr 2021. (This study looked at whether evaluating leg muscle tropism in fetuses could determine open spina bifida. The researchers found that fetuses with spina bifida had lower leg areas and circumferences than fetuses without. They concluded that evaluating leg muscle tropism helped distinguish fetuses with spina bifida and fetuses without.) 
  • Mufti, N, et al. Cortical spectral matching and shape and volume analysis of the fetal brain pre-and post-fetal surgery for spina bifida: a retrospective study. Neuroradiology. 2021; 1-14. (This study looked at fetal surgery’s effect on myelomeningocele fetus brain development. The researchers found changes in cerebella, ventricles, and unmyelinated white matter following myelomeningocele surgery. They also found hindbrain herniation improvements and other morphological changes, including altered cortical folding. The researchers concluded that utilizing third-trimester longitudinal imaging and determining correlations with intracranial and extracranial abnormalities help one understand myelomeningocele fetal brain development.)
  • Verweij, E.J., et al. Fetoscopic myelomeningocele closure: Is the scientific evidence enough to challenge the gold standard for prenatal surgery? Prenatal Diagnosis. 28 Mar 2021. (This study looked at the use of a prior framework to confirm a fetoscopy-assisted spina bifida repair’s efficacy versus a randomized control trial. The researchers argued that a randomized controlled trial would bring challenges, including proper evaluation of surgical interventions and time spent on the trial. They proposed gathering data from registries with long-term follow-ups and standardized outcomes. The researchers concluded that gathering data from registries would be a “valuable alternative.” However, they argued that one cannot discard a randomized controlled trial without establishing the fetoscope-assisted procedure’s superiority.)