Pregnancy Case: Spina Bifida Disability

Risk of Spina Bifida in the Patient and General Population

Due to the relevant case of Spina Bifida (SB) detected in the child of the patient’s relative (sister), it is possible to assume that the patient should be aware of the risk of the development of Spina Bifida in her child as well. Furthermore, when the patient was 19, she had a dead newborn with a neural tube defect.

The patient is at elevated risk of having a child with a neural tube defect or spina bifida; Spina Bifida is one of the most common causes of disabilities in children and adults in the USA and worldwide (Sawin et al., 2015). The majority of children born with SB survive, transit to adulthood, and have to experience the issues and difficulties related to the condition. The majority of adults with SB can have bowel and bladder impairments that they can control with various management techniques.

Prevention of NTDs

One of the most supported interventions for prevention of the development of neural tube defects is the intake of folic acid (FA) or other multivitamins that contain FA (Wallingford, Niswander, Shaw, & Finnell, 2013). One of the recent advances in research of the NTDs is the discovery of genes, which functioning can help researchers understand the multi-factorial nature of NTDs in individuals and not testing animals. Epigenetic mechanisms are also assumed to be related to the NTDs; furthermore, they are affected by FA as well. Research also indicates that some additional micronutrients, such as vitamin B12 or zinc, can be associated with an NTD risk (if present in low levels in a person) (Wallingford et al., 2013). Nevertheless, the NTD etiologies remain undefined, and NTD population risk does not decrease as well.

One of the possible ways to prevent the development of other congenital diseases in the offspring is epigenetic diet. As Li, Saldanha, and Tollefsbol (2014) point out, epigenetic diets based on the consumption of such products as green tea, broccoli, and soybean, as well as bioactive compounds extracted from these diets, can prevent the development of various human diseases such as cancer, cardiovascular diseases, and diabetes by changing aberrant epigenetic profiles.

Furthermore, research also shows that such diets can affect the developmental processes as well, leading to disease prevention in later life (Li et al., 2014). Despite the variety of products suggested by the diet, maternal folate intake is proven to be one of the most effective means of preventing the development of NTDs and other congenital diseases (heart defects, urinary tract anomalies, etc.) in the offspring.

Pregnancy Surveillance

In order to ensure a healthy delivery, specific attention should be paid to the patient’s diet and lifestyle interventions during pregnancy surveillance as her offspring is at risk of acquiring Spina Bifida. Maternal obesity is associated with an increased risk of NTD-affected pregnancy; lower intake of folate through food or supplements might also result in increased risk of NTDs (McMahon, Liu, Zhang, Torres, & Best, 2013).

Regular multivitamin use is also associated with better pregnancy outcomes than no use at all. Thus, the patient will need to focus on lifestyle interventions (dieting, exercise) to reduce the influence of obesity on the pregnancy outcome and ensure a regular intake of folic acid. Other factors such as maternal parity, exposure to toxic substances (e.g., pesticides), and the lack of periconceptional use of folic acid can also adversely influence the pregnancy (Bitzer, von Stenglin, & Bannemerschult, 2013; Duong et al., 2012; Yang et al., 2014).


If the prescribed recommendations are followed, and the patient is willing to visit regular follow-ups and use lifestyle interventions, it is possible to anticipate normal outcomes with no congenital diseases in the offspring. However, the detection of any defects in the fetus might result in the future surgical intervention.


Bitzer, J., von Stenglin, A., & Bannemerschult, R. (2013). Women’s awareness and periconceptional use of folic acid: Data from a large European survey. International Journal of Women’s Health, 5(2), 201-213.

Duong, H. T., Hoyt, A. T., Carmichael, S. L., Gilboa, S. M., Canfield, M. A., Case, A., & Waller, D. K. (2012). Is maternal parity an independent risk factor for birth defects? Birth Defects Research Part A: Clinical and Molecular Teratology, 94(4), 230-236.

Li, Y., Saldanha, S. N., & Tollefsbol, T. O. (2014). Impact of epigenetic dietary compounds on transgenerational prevention of human diseases. The AAPS Journal, 16(1), 27-36.

McMahon, D. M., Liu, J., Zhang, H., Torres, M. E., & Best, R. G. (2013). Maternal obesity, folate intake, and neural tube defects in offspring. Birth Defects Research Part A: Clinical and Molecular Teratology, 97(2), 115-122.

Sawin, K. J., Liu, T., Ward, E., Thibadeau, J., Schechter, M. S., Soe, M. M., & NSBPR Coordinating Committee. (2015). The National Spina Bifida Patient Registry: Profile of a large cohort of participants from the first 10 clinics. The Journal of Pediatrics, 166(2), 444-450.

Wallingford, J. B., Niswander, L. A., Shaw, G. M., & Finnell, R. H. (2013). The continuing challenge of understanding, preventing, and treating neural tube defects. Science, 339(6123), 1-14.

Yang, W., Carmichael, S. L., Roberts, E. M., Kegley, S. E., Padula, A. M., English, P. B., & Shaw, G. M. (2014). Residential agricultural pesticide exposures and risk of neural tube defects and orofacial clefts among offspring in the San Joaquin Valley of California. American Journal of Epidemiology, 179(6), 740-748.