Spina Bifida Prevention Tips

Spina bifida is a neurological birth disorder that occurs in 4 per 10.000 pregnancies in Europe, a disorder that can have a significant impact on both the baby and their parents.

Planning children, there are some precautions to be aware of to prevent spina bifida and avoid the psychological, economic and health consequences of this disorder. This article will describe the preventative measures to lower or even rule out the potential risk factors associated with spina bifida.. 

What is spina bifida?

A disorder of the spine and spinal chord, abnormal development is caused by a gap in the spine. Spina Bifida is a neural tube defect.

One of the critical stages during pregnancy is the formation of the neural tube, where specific cells generate the early brain and spinal cord of a future newborn. This is a fundamental process in the neural tube development and represents the precursor of the nervous system that will continue to evolve throughout the whole gestation.

The formation of the neural tube begins during the early stages of pregnancy. During this time the neural tube can be affected by factors that will prevent its full development, leading to a lack of full development of the vertical column, and a gap in the spine.. This can potentially expose the spinal cord to amniotic fluid, causing nerve damage. 

Depending on the location of the neural tube malformation, spina bifida manifests with different signs and severity of neurological consequences including:

• Lower limb weakness
• Paralysis 
• Lack of sensations
• Incontinence 
• Orthopaedic abnormalities (hip dislocation, scoliosis, kyphosis are frequent) ¹

The most common form of spina bifida is myelomeningocele, characterised by the formation of a visible fluid sac at the spinal cord gap of the developing foetus, with the appearance of a cyst.

Spina bifida can have significant repercussions not only on the newborn but also the parents. Parents may need to provide the caregiver role for their child over the years especially if there is no funded support available, while also bearing the brunt of unforeseen medical costs and the emotional burden and impact of caring for a child with spina bifida.

Given the physical, psychological, emotional and social impact of spina bifida there has been increased effort to gain a greater understanding about this condition and improve therapies, treatment and prevention.

What are the causes of spina bifida?

The exact cause of spina bifida is yet to be fully understood. However, an imbalance or modification linked to genetic, nutritional, and environmental factors could influence embryonic development and trigger neural tube defects (NTDs), including spina bifida.

Genetic factors

• Studies have shown that NTDs cannot be attributed to variations in a single gene, but rather a combination of mutations affecting multiple genes and interaction with non-genetic environmental factors.
• Some rare gene mutations have been closely associated with NTDs, whilst other variants appear to make individuals more susceptible to NTDs, including spina bifida.²
• Having a family history of spina bifida increases the risk, genetic factors increase the risk by 60-70%.¹

Non-genetic factors

Among nonhereditary risk factors, there are environmental triggers relating to a mother’s nutritional status and medical condition, which may indirectly influence the development of the embryo throughout the pregnancy. This is critical in the first trimester, during which the nervous system begins to form.²

• Obesity (BMI 30 or above), the higher the risk
• Maternal diabetes (diabetes type 1 and 2 have an increased risk for the baby to develop spina bifida)
• Mother’s nutrition, lack of folic acid, zinc or vitamin B12
• Alcohol consumption
• Mother on valproic acid or carbamazepine (antiepileptic drugs)

How to prevent spina bifida?

Prenatal multivitamins that contain folic acid

• Folic acid (or folate), also known as vitamin B9, is important to prevent spina bifida. About forty  years ago, it was demonstrated that a lack of folate increased the risk of spina bifida, when women whose pregnancies resulted in the development of NTDs were found to have a mild deficiency of nutrients, including folic acid
• If you are at high risk, with a family history of NTDs, you may be advised to take a higher dose folic acid while planning your pregnancy, whilst women who are not considered at risk should usually take a regular dose instead
• Despite the proven protection provided by folate in pregnancy, the exact mechanism of how it prevents spina bifida and in general NTDs has not been fully explained

Prenatal check-ups

Depending on the situation, it is possible to detect if your baby is at risk of spina bifida before birth with screening examinations, such as:

• Alpha-Fetoprotein Test (AFP): A blood test taken around 16-18 weeks of gestation that aims to check levels of the alpha-fetoprotein in the mother.  Higher levels of this protein maybe associated with spina bifida in the foetus
• Amniocentesis test the amniotic fluid in the uterus, in which the foetus is growing. This test will provide analysis of protein levels present, markers for NTDs and may give an estimation of the risk of spina bifida
• Ultrasound will provide a visual image of a gap (opening) and therefore undeveloped spinal cord on the monitor
• Genetic counselling: a DNA test to detect if  general NTDs run in the family, associated with a higher or lower risk for your baby to be affected by spina bifida.

Avoid alcohol consumption

The risk of developing spina bifida has been shown to be pretty similar among women who consume low doses of alcohol during the first trimester of pregnancy compared to those who do not consume alcohol at all. However, mothers who consume at least 3 drinks a day, for a minimum of 3 days a week were found to have a much higher risk (twice as prevalent), demonstrating that heavy drinking can increase the risk of development of spina bifida in the foetus.³

Reducing the consumption of alcohol or even avoiding it completely would be advisable safe during pregnancy, this would eliminate one of the possible risk factors of spina bifida.

Maintain a balanced diet

• Diabetes and obesity are correlated to a higher risk of developing spina bifida. Therefore, eating a healthy diet to control blood sugar levels and calorie intake, and maintaining a healthy weight would help prevent the development of neurological disorders in your baby.
• Increasing your intake of food enriched in folic acid will also help, due to the protection given by folate.
• A diet containing vitamin B12 or taking supplements to maintain the correct daily intake of this micronutrient is recommended since vitamin B12 acts as a cofactor in the metabolism of folic acid.¹
• For women who are not responsive to supplementation of folic acid, there are alternatives to other folates (5-methyl tetrahydrofolate) that can help with reinforcing primary prevention.¹
• Inositol supplements may also be introduced to your diet during pregnancy to protect the baby from NTDs, especially if you are unresponsive to folates.^1,4

Consult your doctor about any medications you are taking

Certain medications such as carbamazepine, valproate, or antiepileptic drugs were first identified as correlated to developing spina bifida, with valproate being the most significant risk factor among these medications. It would be advised to either avoid the medication or reduce the dose, under strict medical supervision.²   

Please consult your doctor before making any changes to your medication. 

What can be done to enhance spina bifida prevention?

Not all women are aware of the risk factors, especially when pregnancy occurs without consulting a healthcare professional first. Taking steps to improve general knowledge and education about this topic can help to lower the incidence of spina bifida, and a few other actions could work towards this goal:

• Promotion of public awareness campaigns 
• Providing soon-to-be parents with educational material and resources
• Strengthening the collaboration among healthcare providers

Summary

Spina bifida, a neural tube defect, can cause severe neurological issues for newborns and seems to be correlated to genetic, nutritional, and environmental factors, even though the real mechanisms behind it are yet to be completely identified. Prevention strategies, including prenatal vitamins,, screening tests, and lifestyle adjustments, are crucial. Increasing awareness and access to healthcare through public campaigns and better collaboration among healthcare providers could significantly reduce the incidence of spina bifida.