Spina Bifida

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/spina-bifida

Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development.

genetic conditions

1. Introduction

Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is contained in the sac. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.

In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the spinal cord does not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.

2. Frequency

Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hispanic whites than in African Americans.

3. Causes

Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown.

Changes in dozens of genes in individuals with spina bifida and in those of their mothers may influence the risk of developing this type of neural tube defect. The best-studied of these genes is MTHFR, which provides instructions for making a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects like spina bifida. Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for spina bifida. However, none of these genes appears to play a major role in causing the condition.

Researchers have also examined environmental factors that could contribute to the risk of spina bifida. As mentioned above, folate deficiency appears to play a significant role. Studies have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with spina bifida or a related neural tube defect. Other possible maternal risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.

3.1 The gene associated with Spina bifida

MTHFR

4. Inheritance

Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (such as siblings and children) of people with spina bifida have an increased risk of the condition compared with people in the general population.

5. Other Names for This Condition

cleft spine
open spine
rachischisis
spinal dysraphism

References

Au KS, Ashley-Koch A, Northrup H. Epidemiologic and genetic aspects of spinabifida and other neural tube defects. Dev Disabil Res Rev. 2010;16(1):6-15. doi: 10.1002/ddrr.93. Review.
Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin PediatrNeurol. 2009 Sep;16(3):101-10. doi: 10.1016/j.spen.2009.06.001. Review.
Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N Engl J Med.1999 Nov 11;341(20):1509-19. Review.
Copp AJ, Greene ND. Genetics and development of neural tube defects. J Pathol.2010 Jan;220(2):217-30. doi: 10.1002/path.2643. Review.
Doudney K, Grinham J, Whittaker J, Lynch SA, Thompson D, Moore GE, Copp AJ,Greene ND, Stanier P. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. Am J Med Genet A. 2009Jul;149A(7):1585-9. doi: 10.1002/ajmg.a.32937.
Folic acid for the prevention of neural tube defects. American Academy ofPediatrics. Committee on Genetics. Pediatrics. 1999 Aug;104(2 Pt 1):325-7.
Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009 Oct 15;18(R2):R113-29. doi: 10.1093/hmg/ddp347. Review.
Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidencefor MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6. doi:10.1038/gim.2012.165.
Levin BL, Varga E. MTHFR: Addressing Genetic Counseling Dilemmas UsingEvidence-Based Literature. J Genet Couns. 2016 Oct;25(5):901-11. doi:10.1007/s10897-016-9956-7.
Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol. 2009Oct;201(4):394.e1-11. doi: 10.1016/j.ajog.2009.06.042.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, WhiteheadAS. Spina bifida. Lancet. 2004 Nov 20-26;364(9448):1885-95. Review.
Ross ME, Mason CE, Finnell RH. Genomic approaches to the assessment of humanspina bifida risk. Birth Defects Res. 2017 Jan 30;109(2):120-128. doi:10.1002/bdra.23592. Review.
Yan L, Zhao L, Long Y, Zou P, Ji G, Gu A, Zhao P. Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects inoffsprings: evidence from 25 case-control studies. PLoS One. 2012;7(10):e41689.doi: 10.1371/journal.pone.0041689.
Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G.Genetic variants in the folate pathway and the risk of neural tube defects: ameta-analysis of the published literature. PLoS One. 2013 Apr 4;8(4):e59570. doi:10.1371/journal.pone.0059570. Print 2013.

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Bruce Ren

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Update Date: 23 Dec 2020

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