Spina bifida is a birth defect affecting the spine. It occurs when some part of the neural tube along the spine does not fuse properly before birth, preventing proper bone growth along the spine. This typically results in damage to the spinal cord and the neural net it protects. Infants born with the disorder may experience mental or physical disabilities due to nerve damage.

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Previously, treatment of the disorder was limited to simply managing symptoms, but a new prenatal surgery being studied by UC Davis may have greater effects on the disorder and its symptoms.

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Types of Spina Bifida

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There are three variations of spina bifida, categorized depending on the severity of the damage. Each has its own set of symptoms.

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Occulta

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Occulta is the mildest version of the disorder. It occurs when there is a small opening or gap within the spine, typically causing few noticeable symptoms. It is the least likely to cause disability and often goes undiscovered until well into childhood, or even as late as adulthood, typically after x-rays are conducted for unrelated reasons.

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Meningocele

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In cases of meningocele, babies are born with a protruding sac of fluid produced by a spinal malformation. Although this can cause some physical disability, it typically doesn’t affect the nerves within the spinal cord, so symptoms may be mild if they are even present at all.

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Myelomeningocele

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The most severe version of spina bifida, and the most likely to be recognized early on, is myelomeningocele. A sac of fluid protrudes through the baby’s spine, just like a meningocele. However, it also contains nerves or some part of the spinal cord, leading to nerve damage and disability that can range from moderate to severe, depending on the size of the sac and its location. Typically, the lower down the spine that the malformation occurs, the less severe the associated disabilities are likely to be.

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No two cases of myelomeningocele are exactly the same, but some common symptoms include intellectual delays or disabilities, incontinence or difficulty passing waste, reduced mobility, and muscle weakness. In some cases, the damage may cause a malformation of the brain, such as a Chiari II malformation, where a part of the brain stem protrudes into the spine canal, or hydrocephalus, a disorder caused by excess fluids surrounding the brain and causing damage. Though some of these symptoms may also occur with the occulta or meningocele versions of the disorder, that is less likely.

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Diagnosis of Spina Bifida

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Spina bifida can be diagnosed in a few different ways, both before and after birth. During gestation, doctors may perform blood tests, ultrasounds, or tests of the amniotic fluid that may indicate the presence of the disorder. In particular, elevated levels of the protein Alpha-fetoprotein AFP in the mother’s bloodstream or within the amniotic fluid may indicate spina bifida or other disorders associated with neural malformation.

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If the condition is not discovered during pregnancy, whether due to a lack of prenatal care or low visibility of the malformation in ultrasound pictures, it may still be found shortly after birth. In some cases, a patch of excessive hair, discoloration such as a birthmark, or an unusual dimple along the spine may indicate the disorder.

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Previous Treatments

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Doctors have been seeking treatment for spina bifida for some time. Because of the variations in the disorder, most current and previous treatments seek to remedy the symptoms, with care typically being individualized. In some cases, surgery may be used to correct the malformation after birth. Typically, the best treatment is prevention. Expectant mothers are encouraged to take folic acid supplements; avoid high body temperatures such as those caused by fevers, saunas, or hot tubs; and resolve any temporary medical issues before becoming pregnant.

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The CuRe Trial

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The latest study exploring treatments of spina bifida, which is being conducted by UC Davis, was announced in March of 2021, referred to as the CuRe Trial. It sought to use stem cell therapies in utero to treat the most severe cases of spina bifida before birth. The initial findings of the trial were reported in October 2022, describing initial outcomes in newborns who had received the treatments.

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Procedure

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The study used surgical techniques to graft a patch of stem cells onto the affected part of the spine while the baby was still in utero. Researchers initially planned to attempt the surgery on six patients, monitoring them throughout gestation and for six years following birth. A future study, though, seeks to increase the number of participants to 35.

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Previous studies of the therapy using animals, specifically sheep and English bulldogs, allowed affected animals to walk and indicated that treatment was safe, at least for use on animals.

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The stem cells used in the surgery were collected from placentas and cultivated in a lab environment. Participants were required to move to UC Davis’ location in Sacramento, though, to receive the treatment, deliver the babies, and attend follow-up appointments during and after pregnancy.

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Early Findings

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In October 2022, researchers announced that the first three babies treated with this experimental surgery had been born. The first child born following the surgery is now over a year old. Called Robbie, the baby was expected to be born with paralysis, among other disabilities, but began kicking her legs immediately after birth, indicating some level of success. Further monitoring will continue until age six to determine whether any other symptoms (in particular, developmental delays) remain.

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Further Study

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If you are an expectant mother whose baby has been diagnosed with a neural tube defect, you may be eligible to participate in this study. Mothers must be 18 years of age to consent to the study, and will be required to go through a screening period, the actual surgery, and weekly visits following the surgery to monitor health effects. The baby must also be delivered at the UC Davis Medical Center.

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For more information or participation details of the research study, visit their study website.

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