Mirana Gavami, CC BY-SA 4.0 <https://creativecommons.org/licenses/by-sa/4.0>, via Wikimedia Commons. https://commons.wikimedia.org/wiki/File:Spina_Bifida_t%C3%BCrleri.tif
Spina bifida is a congenital condition that occurs when a segment of the embryonic spinal cord does not grow correctly or fails to shut completely during the third and fourth weeks of gestation. This type of neural tube defect impacts the spine, resulting in medical and neurological complications (Sandler A.D., 2010; CDC website).
Spina bifida, which happens to be the most common type of neural tube anomaly is typically detected at birth. When the neural tube does not close completely during pregnancy, the backbone does not develop and the nerves and spinal cord are vulnerable to injury (Sandler A.D., 2010; CDC website). Spina bifida comes in three different types: meningocele, spina bifida occulta, and myelomeningocele (CDC website).
Spina bifida occulta is sometimes called "hidden spina bifida" because there is no opening or sac on the back, and the nerves and spinal cord are usually fine. This is the mildest form of spina bifida because it doesn't affect any spine function. It usually doesn't cause any problems. A regional skin anomaly (such as pigmented or hairy skin, dimples, or dermal sinus) may accompany the absence of one or more vertebral arches. A small opening between the vertebrae would be created by this. Until late infancy or even into adulthood, spina bifida occulta often stays undiagnosed. (CDC website; Sandler A.D., 2010; Patel NT et al., 2024).
The swelling that is wrapped in skin is called a meningocele if it is caused by an intact spinal cord. The most uncommon kind of spina bifida, a meningocele, occurs when the spinal cord is encased in fluid and the meninges are forced out through the opening because the bones did not close properly around it. Nerves and the spinal cord are usually either normal or not very different from each other. Meningoceles usually have skin covering them, and if the sac is there, surgery may be needed. Meningoceles are almost always found in the lumbosacral area and are known to cause minor problems (Patel NT et al., 2024; CDC).
Some people with the worst form of the disorder, myelomeningocele, have moderate to serious disabilities, such as being unable to move their legs. With myelomeningocele, the neural tube doesn't close all the way at 28 days of pregnancy, so the spinal cord doesn't grow properly. This makes a sac full of fluid stick out through the back, and some of the spinal cord and nerves can be seen through that hole (Philips L.A., et al. 2017; CDC website). Sometimes sacs wouldn't have skin covering them; instead, the nerves and organs around them could be seen. In most cases, the location and severity of the spinal deformity are used by clinicians to determine the extent of neurological impairment. Concerns about the urinary tract and bowel functions may arise in the event that the base of the spinal cord is compromised (Patel N.T. et al, 2024).
Little is known about the factors that increase the likelihood of the defect or the roles played by genes and the environment in the development of spina bifida. However, the risk of spina bifida is increased when folic acid supplements are not taken or taken in insufficient amounts, or when medicines like valproic acid are used during pregnancy that hinder the body's ability to use folate. A woman who is very young or very old may have a slightly higher risk (Patel NT et al, 2024; Copp A.J. et al., 2016). So may someone who had poorly controlled diabetes before getting pregnant, had a child or sibling with spina bifida, had seizures, was overweight, or had a fever or hyperthermia for any reason, including being in a sauna or hot tub in the first six weeks of pregnancy (Copp A.J. et al., 2016).
Spina bifida can be diagnosed during pregnancy or after the baby is born. Spina bifida occulta can remain undetected until late childhood or even into adulthood. Spina bifida occulta may remain undiagnosed in some cases. The alpha-fetoprotein test, which is done before a baby is born, can find spina bifida and many other birth defects. High numbers on this test usually mean that a baby has spina bifida. As a follow-up test to a mother blood alpha-fetoprotein test, an amniocentesis could be ordered to make sure the problem is real. Together, a fetal magnetic resonance imaging (MRI) and an infant ultrasound screening can detect spina bifida. If spina bifida is not detected during pregnancy, an X-ray of the baby's spine can be taken after birth. A hairy patch or a dimple on the back may also prompt further testing to confirm or rule out spina bifida (Patel NT et al., 2024).
Treatment is usually individualized for each patient due to the varying degrees of spina bifida severity. Typically, treatment under the supervision of medical experts is necessary for all bodily systems impacted by the disease. In addition to reducing the need for shunting at the end of the first year of life and improving motor function in childhood, early surgical therapy and diagnosis during pregnancy considerably decrease the risk of infant death related to spina bifida. However, there are risks to the placenta and an increased risk of infection associated with these drugs (CDC website; Sandler AD, 2010; Patel NT et al., 2024).
Modern surgical procedures and comprehensive medical care have made it possible for some people with spina bifida to have active and satisfying lives (CDC website; Patel NT et al., 2024).
REFERENCES
Sandler A.D. Children with Spina Bifida: Key Clinical Issues. Pediatrics Clinics Volume 57, Issue 4, P879-892, August 2010.
Philips L.A, Burton M.B, and Evans S.H. Spina Bifida Management. Current Problems in Pediatric and Adolescent Health Care. Volume 47, Issue 7, July 2017, Pages 173-177.
U.S. Centers for Disease Control and Prevention (CDC). About Spina Bifida. https://www.cdc.gov/spina-bifida/about/index.html
Patel N.T., Rizk E.B., Simon S.D., (2024). Spina Bifida. American Association of Neurological Surgeons (AANS). https://www.aans.org/patients/conditions-treatment/spina-bifida
Copp A. J., Adzick N. S., Chitty L. S., Fletcher J. M., Holmbeck G. N., Shaw G. M. Spina bifida. Nat Rev Dis Primers. 2015;1:15007. Published 2015 Apr 30. doi:10.1038/nrdp.2015.7 Assessed and Endorsed by the MedReport Medical Review Board