What are the causes and risk factors for spina bifida?

Spina bifida is a birth defect that occurs when a fetus's spine does not develop completely during the first month of pregnancy, which can lead to spinal cord and nerve damage. The exact cause of spina bifida remains unknown, but a combination of genetic, nutritional, and environmental factors is believed to play a role in its occurrence [1].

Genetic Factors

Spina bifida can be inherited from parents to children. If one parent has spina bifida, there is an increased chance of their child having it. Also, parents who have previously had a child with a neural tube defect, including spina bifida, have a slightly increased risk of having another child with this condition [1].

Folic Acid Deficiency

Not getting enough folic acid daily is one of the main risk factors for spina bifida. Folic acid (folate) is an important vitamin for healthy fetal development. Consuming folic acid can significantly help reduce the risk of neural tube defects. Doctors recommend taking a daily vitamin supplement containing 400 micrograms of folic acid before and during pregnancy [1].

Medical Conditions and Medications

Certain medical conditions and medications taken by the mother increase the risk of having a child with spina bifida. Women with poorly controlled diabetes or those taking certain anti-seizure medications (especially valproate, which is also used to treat headaches and bipolar disorder) are more likely to have a child with spina bifida [1].

Early Diagnosis and Its Relation to Causes

Although the exact causes may be complex, early diagnosis of spina bifida can be done during pregnancy. One screening is the maternal serum alpha-fetoprotein (MSAFP) test, a blood test that measures the levels of this protein produced by the fetus. Elevated levels of this protein may indicate that the fetus has spina bifida or another neural tube defect [2]. Ultrasounds can also be used to detect spina bifida accurately, especially during the second trimester (about 18–22 weeks) [1]. For more information about spina bifida and its types, you can visit Spina Bifida: Causes, Diagnosis, and Lifelong Management (Arabic).

Ongoing Research

Researchers are still working to understand the role of genetics, environment, and nutrition in the development of spina bifida. Genetic studies aim to identify the genes that increase the likelihood of these defects and how genes function during the proper closure of the neural tube to improve clinical care and treatment [1].

Medical references

• Spina Bifida
• Alpha-Fetoprotein (AFP) Test