Spina Bifida: Neural tube defect

1. Genetic Factors

1.1. Abnormality with MTHFR gene which makes protein. The protein is processed into folate.

1.2. Folate deficiency leads to neural tube defects

2. Neural tube: embryonic structure which formed after the 28th day of conception, into an infant's brain, spinal cord and tissues forming the covering. Neural tube defects are the most common birth defects among the central nervous system

2.1. References

2.1.1. Your guide to understanding genetic conditions. (2018). Retrieved from Spina bifida

2.1.2. Spina Bifida. (n.d.). Retrieved from https://www.mayoclinic.org/diseases-conditions/spina-bifida/diagnosis-treatment/drc-20377865

2.1.3. Sahmat, A., Gunasekaran, R., Mohd-Zin, S., Balachandran, L., Thong, M., Engkasan, J., ... Omar, Z. (2017). The prevelance and distribution of Spina Bifida in a single referral center in Malasia. Frontiers in Pediatrics, 5, 237. https://doi.org/10.3389/fped.2017.00237

3. Pathophysiology/Etiology

3.1. Exact cause unknown. However, has been linked to genetics, nutritional deficits, environmental factors. The leading cause is insufficient amounts of folate

3.1.1. Risk Factors/causative factors

3.1.2. Folate deficiency

3.1.3. family history

3.1.4. medications (Valproic acid/anti-seizure)

3.1.5. diabetes

3.1.6. obesity

3.1.7. hyperthermia in early pregnancy

4. Diagnostic Tests

4.1. MSAFP: Maternal serum alpha fetoprotein (AFP). Increased levels of AFP suggest neural tube defects

4.1.1. New vocabulary

4.2. Ultrasound for appearance of neural tube closure

4.3. Amniocentesis for further AFP testing

5. Types of Spina Bifida

5.1. Spina Bifida Occulta: often undetected as the gap in the vertebrae are covered by skin and lead to little to no complications

5.1.1. Text book, exercises 34, 35, 36, 37

5.2. Meningocele: The membranes of the spinal column push out through the opening in the vertebrae forming a fluid filled sac. There is no actual spinal column within the sac.

5.3. Myelomeningocele: "Open Spina Bifida" as the spinal canal is open in the low or middle back with exposed tissues and nerves. This is the most severe form

6. Treatments: dependent on severity. Involves surgery to close membranes to cover exposed tissues and nerves

7. Common Findings: Irreparable nerve damage, weak legs, bladder and/or bowel complications, need for walking or mobility aids and on-going care

8. Earliest surgery can be done before birth before the 26th week of pregnancy, which has been proven to be most successful with less future disabilities and decreased risk of hydrocephelus