What is Spina Bifida?

Spina bifida is a type of neural tube defect. A neural tube defect impacts the development of the brain and/or spinal cord of the child during pregnancy. Spina bifida occurs when parts of the spine or spinal cord do not form properly. During the first month of pregnancy, the embryo (starting stages of the baby) will develop a neural tube. As the embryo develops, the neural tube will form into the backbone (spine) and nervous system. Incomplete development of the neural tube can cause a split in the spine, leading to problems such as paralysis and difficulties going to the toilet. According to the University of New South Wales [1], around 4.8-5.9 out of every 10000 births have a neural tube defect. Women who are young (particularly between 18-20), indigenous, and those who live in remote areas have a higher risk of giving birth to a baby with spina bifida [2].
 

Spina Bifida Types

There are three main types of spina bifida that vary in severity. These will be listed and described below.

Spina bifida occulta

Spina bifida occulta occurs when there is an incomplete formation of the vertebrae (bones of the spine). This can lead to a gap in the backbone. While there are no apparent signs of this condition, there can be hairy growth, dimples or red patches outside the affected area. Occulta is the mildest form of spina bifida. Some people do not experience any disabilities or even notice they were born with it.

Meningocele

Meningocele occurs when the spinal cord is unaffected but the layers (meninges) around it protrudes outside the backbone. People with this condition have a sac seen from outside the spine.

Myelomeningocele

Myelomeningocele is usually the most common and severe type of spina bifida. The spinal cord and layers around it (meninges) protrude outside the backbone. Like those with meningocele, a sac containing these structures can be seen outside the spine.
 

Symptoms of Spina Bifida

Spina bifida symptoms are highly variable. Some people don't even notice their spina bifida, while others experience ongoing and severe symptoms. The severity of the condition will depend on the location, size and type of spina bifida that is diagnosed. One sign of spina bifida is the presence of any protrusions along the backbone from birth, especially in those with meningocele or myelomeningocele. Those with spina bifida occulta do not have any apparent deformities but may have less obvious signs, such as a hairy or red patch right behind the affected part of the spine. Other symptoms that those with spina bifida may experience include [3][4]:

• Pain, especially around the back, abdomen, neck, jaw and upper arm
• Poor mobility and movement, ranging from assistance with braces to requiring wheelchair support
• Paralysis
• Skin problems, such as blisters, rashes and calluses
• Weakness
• Problems
• Bladder and bowel problems
• Impaired cognition and learning ability
• Seizures
• Hormone imbalances

 

Spina Bifida Causes

Spina bifida is caused by an incomplete closure or development of the baby's neural tube, usually occurring in the first month of pregnancy. The causes of spina bifida are not exactly known [5], although scientists believe that genetic and environmental factors may be involved.

Risk Factors for Spina Bifida

Although the causes are not fully understood yet, some risk factors increase the chances of giving birth to a child with spina bifida. One of the most commonly touted risk factors is the lack of folate and folic acid in a pregnant mother's diet [2]. Folate and folic acid are types of vitamin B's which are essential for cell growth and development. Other risk factors include [3][4]:

• Obesity during pregnancy
• Diabetes during pregnancy
• Taking medications such as anti-epileptic drugs
• Genetic mutations
• Having a family history of spina bifida
• Giving birth to other children with spina bifida

 

Spina Bifida Diagnosis and Tests

There are several assessments that doctors can perform to help diagnose spina bifida during pregnancy. Two common spina bifida tests are ultrasounds and alpha-fetoprotein levels in the blood [3][4][6].

Blood Tests

Blood drawn out from your arm veins will be tested for alpha-fetoprotein levels. This protein is produced by the baby and passes into the mother's bloodstream. High levels may indicate spina bifida and/or developmental abnormalities.

Ultrasound Tests

Ultrasound tests can be performed by week 16 to diagnose spina bifida. Ultrasound used high-frequency sound waves to help see what is happening inside the womb. It is regarded as one of the safest and most effective ways to diagnose this condition.

Amniocentesis

If your doctor suspects your child has spina bifida from the previous tests, an amniocentesis procedure may be performed. Liquid taken from the fluid surrounding the baby (amniotic fluid) will be carefully taken for testing. High alpha-fetoprotein levels may indicate spina bifida or congenital disabilities [8].
 

Spina Bifida Treatments

Currently, there is no cure for spina bifida. However, there are ways to reduce the risk of giving birth to a child with spina bifida and treatments available to improve the quality of life for those diagnosed.

Folic acid and folate

Supplementing or having a diet with enough folic acid can help prevent the chances of spina bifida by 72% [9]. Speak to your GP about having enough folic acid before or while trying to become pregnant.

Healthy Lifestyle

The mother's health can affect the chances of spina bifida for the baby. Talk to your doctor about what can be done to help optimise health, including diet, exercise and any other piece of advice. Referrals may be made to relevant health professionals, such as midwives, dieticians and exercise physiologists.

Treatment after Birth

Treatment after birth will vary depending on the severity of the condition and symptom. Some of those with spina bifida may not be impacted, while others may require a combination of appropriate treatment and/or therapy. Examples of treatments that your GP may recommend include [3][4]:

• Paediatrician
• Mobility supports (e.g. crutches, wheelchairs, braces, etc.)
• Surgery
• Social supports (e.g. working with a social worker, community/organisational help, etc.)
• Physiotherapy and exercise physiology
• Occupational therapy input to assist with self-care
• Bowel and bladder support from healthcare, such as specialised nurses and doctors
• Speech pathologist

 

Complications

Complications will vary between individuals living with spina bifida. Children and adults with spina bifida can experience several difficulties that are either directly or indirectly related to the condition. Examples include [4]:

• Muscle and joint problems affect the ability to carry out essential tasks (e.g. walking, participating in sports, etc.)
• Bladder and bowel problems, such as incontinence, diarrhea or constipation
• Poor sensation and ability to heal
• Learning difficulties
• Self-esteem and confidence issues
• Problems with sexuality

Always talk to your GP about services and advice to help prevent, manage and/or treat these complications.
 
 

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References

1. https://npesu.unsw.edu.au/sites/default/files/npesu/surveillances/NTD%20Australia%200711_1.pdf
2. https://www.aihw.gov.au/reports/mothers-babies/neural-tube-defects-australia/summary
3. Brea, C. M., & Munakomi, S. (2021). Spina Bifida. In StatPearls [Internet]. StatPearls Publishing.
4. https://www.rch.org.au/uploadedFiles/Main/Content/fracp_resources/Spina_Bifida_Lecture_2010%5B1%5D.pdf
5. https://www.spinabifidaassociation.org/what-is-spina-bifida-2/
6. Chan, A., Robertson, E. F., Haan, E. A., Ranieri, E., & Keane, R. J. (1995). The sensitivity of ultrasound and serum alpha‐fetoprotein in population‐based antenatal screening for neural tube defects, South Australia 1986–1991. BJOG: An International Journal of Obstetrics & Gynaecology, 102(5), 370-376.
7. Ghi, T., Pilu, G., Falco, P., Segata, M., Carletti, A., Cocchi, G., ... & Rizzo, N. (2006). Prenatal diagnosis of open and closed spina bifida. Ultrasound in obstetrics & gynecology, 28(7), 899-903.
8. Weiss, R. R., Macri, J. N., Elligers, K. E. N. N. E. T. H., Princler, G. L., McIntire, R., & Waldman, T. A. (1976). Amniotic fluid alpha-fetoprotein as a marker in prenatal diagnosis of neural tube defects. Obstetrics and gynecology, 47(2), 148-151.
9. MRC Vitamin Study Research Group. (1991). Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. The Lancet, 338(8760), 131-137.