Spina Bifida: Planning for Pregnancy and Reducing Birth Defect Risks

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There are many advantages to being able to plan for a pregnancy before becoming pregnant. While not always possible, planning a pregnancy offers numerous benefits, including emotional readiness, financial preparation, and significant medical advantages. For the mother, ensuring proper nutrition, treatment, and vitamin intake, such as folic acid (Vitamin B9), is vital for healthy fetal development.

In the first month of pregnancy, an important process is going on; the neural tube, which develops into the brain and spinal cord, begins forming. When the development of this structure goes awry, the brain and spinal cord do not develop properly. Disruptions in this process can cause neural tube defects (NTDs) in which the baby’s spine does not close as it should and there is a gap in the spine.  The most common outcome of this defect is that the baby will be born with a condition called spina bifida (split spine).  Spina bifida occurs in about 1 in every 2,875 births. About 1,500 babies are born with spina bifida each year. 

Before the symptoms and treatment of spina bifida are discussed, it is important to note that there is an easily obtainable way to increase the odds of your child not being born with spina bifida. Research shows that taking 400 micrograms of folic acid daily before and during early pregnancy can reduce the risk of spina bifida by up to 70%. Women with a history of spina bifida-affected pregnancies are advised to take 4,000 micrograms daily. While a healthy diet is extremely important, diet alone may not provide adequate folic acid; prenatal supplements are essential.

RISK FACTORS 

Several factors increase the risk of spina bifida, including:

  • Obesity: Women with a BMI of 30 or higher have an elevated risk.
  • Diabetes: Poorly controlled blood sugar levels can increase risks.
  • Family History: A close relative or having a prior child with spina bifida increases the risk of spina bifida.
  • Medications: Certain drugs, such as valproate and carbamazepine (used for epilepsy and bipolar disorder), are linked to spina bifida. If there is a chance you could become pregnant while taking them, discuss alternative medication options and reliable contraception with your medical practitioner.

TYPES OF SPINA BIFIDA

  • Occulta: The most common form of spina bifida. With a small spinal opening on the baby’s spine, occulta is often without symptoms.
  • Meningocele: A sac of fluid protrudes through an opening in the spine; nerves are not typically affected, though reduction of bladder or bowel control may occur.
  • Myelomeningocele:  Nerves and spinal cord tissue in a sac protrude through an opening along the spine. Usually, the protrusion is in the lumbo-sacral region.  
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The higher the lesion on the spine, the greater the risk of complications.  The complications can include:

  • Incontinence of bladder and bowel
  • Sexual dysfunction
  • Weakness and loss of sensation below the defect
  • Paralysis of the legs
  • Cognitive limitations

CAUSES

Scientists and researchers are not clear about the precise cause of spina bifida but they are clear about factors that can increase the probability of the condition.

DIAGNOSIS

Diagnosis of spina bifida can occur before birth, using routine parts of a pregnancy check-up (often called a “prenatal examination”). 

  • Ultrasound: Can detect the presence of spine abnormalities between 16–18 weeks of pregnancy.
  • Sonogram:  May show indications of a cyst on the spine.
  • Amniocentesis: Confirms neural tube defects by analyzing amniotic fluid for the presence of alpha-fetoprotein (AFAFP) and acetylcholinesterase (AChE).
  • Blood Tests: Elevated maternal alpha-fetoprotein levels can indicate defects.

TREATMENT AND MANAGEMENT

  • Surgery: Fetal surgery means operating on a developing fetus while it’s still in the mother’s uterus to repair myelomeningocele, improving outcomes for the baby. Traditionally the optimal time to perform the fetal surgery is between the 22nd and 26th week of pregnancy.  In some situations, the surgery is performed after surgery but outcomes are usually better when surgery is performed in utero. 

If the child is born with physical differences, various treatments are available:

  • Assistive Devices: Braces, crutches, walkers, or splints may be recommended to help individuals gain and maintain walking skills, or wheelchairs to support mobility.
  • Rehabilitation Therapies: Physical, occupational, speech, and recreational therapies may aid development.
  • Bowel/Bladder Management: Several management techniques may be available. Catheters and timed bowel regimens help manage symptoms. Medications may be an option.

REDUCE RISK OF BIRTH DEFECTS 

  • Take prenatal vitamins: For example, 400 micrograms of folic acid daily before and during early pregnancy or as recommended by your physician.
  • Get vaccinated: Stay updated on recommended vaccines.
  • Maintain a healthy weight: Obesity can increase risk.
  • Avoid harmful substances: Avoid smoking, alcohol, and recreational drugs.
  • Manage chronic conditions: Control conditions like diabetes.
  • Be mindful of toxins: Limit exposure to harmful chemicals.
  • Consult a doctor: See your doctor before becoming pregnant. Review medications and medical history before pregnancy.

Regular prenatal care is essential for monitoring maternal and fetal health, reducing complications, and ensuring a safe pregnancy journey.

Planning for pregnancy and prioritizing prenatal care offer powerful opportunities to support both maternal and infant health. By making informed choices—such as taking folic acid, managing health conditions, and maintaining a healthy lifestyle—women can reduce the risks of birth defects and pave the way for a positive pregnancy experience. While challenges may arise, advances in care and supportive therapies provide hope for families, empowering them to nurture healthy, thriving children. With knowledge, preparation, and care, each step forward is a step toward a brighter, healthier future.

 

REFERENCES

 1. CDC.gov. Reproductive Health, May 15, 2024

2.  MRC Vitamin Study Research Group., authors Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet. 1991;338:131–137. [PubMed] [Google Scholar]

3.  Czeizel A.E., Dudas I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N. Engl. J. Med. 1992;327:1832–1835. doi: 10.1056/NEJM199212243272602. [

DOI https://doi.org/10.1056/NEJM199212243272602

PubMed https://pubmed.ncbi.nlm.nih.gov/1307234/

4. Centers for Disease Control and Prevention, authors. Use of folic acid for prevention of spina bifida and other neural tube defects—1983–1991. MMWR Morb. Mortal. Wkly. Rep. 1991;40:513–516. 

PubMed https://pubmed.ncbi.nlm.nih.gov/2072886/

5. Centers for Disease Control and Prevention, authors. Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Recomm. Rep. 1992;41:1–7. 

PubMed https://pubmed.ncbi.nlm.nih.gov/1522835/

6. This information and picture were found in the online information provided by the Children’s Hospital of Philadelphia (CHOP).

7.  This information was found in the online information provided by the Cleveland Clinic
8.  This information was found on CDC.gov, Birth Defects, November 19, 2024