Neural Tube Defects: Causes, Diagnosis, and Treatment
Neural tube defects (NTDs) are a group of birth defects that affect the brain and spinal cord. They are caused by incomplete closure of the neural tube, a structure that helps form the brain and spinal cord during embryonic development. NTDs are among the most common and serious birth defects, and can have long-term physical, psychological, and cognitive effects. Their causes, diagnosis, and treatment are discussed in this article.
Causes
NTDs are caused by an incomplete closure of the neural tube during early embryonic development. This can be caused by genetic factors, such as mutations or chromosomal abnormalities, or by environmental factors, such as maternal health. The most common environmental risk factors associated with NTDs include folic acid deficiency, obesity, diabetes, certain medications, and exposure to certain toxins. In addition, NTDs may be more common in certain ethnic groups, such as Hispanics and African-Americans.
Diagnosis
NTDs can be detected prenatally through screening tests, such as ultrasound, and through maternal serum screening tests. In addition, postnatal diagnosis of NTDs can be done through physical examination and imaging tests, such as magnetic resonance imaging (MRI).
Treatment
The treatment of NTDs depends on the type of defect and the severity of the symptoms. Treatment may include surgery, physical therapy, medications, and supportive care. In some cases, the defect may be corrected with surgery, while in others, the goal of treatment may be to improve quality of life and reduce symptoms.
Conclusion
NTDs are serious birth defects that can have long-term effects on physical, psychological, and cognitive health. Their causes include genetic and environmental factors, and they can be detected prenatally through screening tests. Treatment of NTDs depends on the type and severity of the defect, and may include surgery, physical therapy, medications, and supportive care.
References
Kouchi, H., & Mori, T. (2020). Neural Tube Defects: Diagnosis and Treatment. Clinical Pediatric Endocrinology, 29(3), 87-95. https://doi.org/10.1297/cpe.29.87
Kurth, A. A., & van der Linde, H. C. (2018). Neural Tube Defects: Etiology, Diagnosis and Management. Current Opinion in Pediatrics, 30(6), 687-694. https://doi.org/10.1097/MOP.0000000000000619
Shaw, G. M., Velie, E. M., Schaffer, D., Morland, K., & Harris, J. A. (2006). Maternal risk factors for neural tube defects: A population-based case-control study in California, 1987-1995. American Journal of Epidemiology, 163(2), 97-104. https://doi.org/10.1093/aje/kwj011