Neural Tube Defects

Reference work entry

Neural tube defects (NTDs) are among the most common severe congenital malformations of the central nervous system. Approximately 1 in 500 to 1 in 1,000 pregnancies result in NTDs. About 4,000 fetuses are affected each year in the USA. The incidence varies with geographic areas and ethnic groups. The incidence, however, appears to be decreasing recently.

Synonyms and Related Disorders

Anencephaly; Cranial meningocele; Cranio/spinal rachischisis; Cranium bifidum occultum; Encephalocele; Iniencephaly; Spina bifida

Genetics/Basic Defects

  1. 1.

    Caused by a defect in closure of the neural tube, which is normally closed by 28 days

     
  2. 2.

    Etiology: complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype.

     
  3. 3.
    Specific causes are identified in less than 10% of affected infants.
    1. a.

      Chromosomal abnormalities

       
    2. b.

      Single gene mutations

       
    3. c.

      Teratogens

       
     
  4. 4.

    Defects in the neural tube closure linked to...

Keywords

Folic Acid Cavitation Carbamazepine Hydrocephalus Homocysteine 

References

  1. Ahmad, F. U., Dwarakanath, S., Sharma, B. S., et al. (2008). Multiple neural tube defects: A clinical series of seven cases and their embryological basis. Pediatric Neurosurgery, 44, 280–287.PubMedCrossRefGoogle Scholar
  2. Akar, N., Akar, E., Deda, G., et al. (2000). spina bifida and common mutations at the homocysteine metabolism pathway. Clinical Genetics, 57(3), 230–231.PubMedCrossRefGoogle Scholar
  3. American Academy of Pediatrics, & Committee on Genetics. (1999). Folic acid for the prevention of neural tube defects. Pediatrics, 104, 325–327.CrossRefGoogle Scholar
  4. Balci, S., Aypar, E., Altmok, G., et al. (2001). Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings. Prenatal Diagnosis, 21, 558–562.PubMedCrossRefGoogle Scholar
  5. Bassuk, A. G., & Kibar, Z. (2009). Genetic basis of neural tube defects. Seminars in Pediatric Neurology, 16, 101–110.PubMedCrossRefGoogle Scholar
  6. Botto, L. D., Moore, C. A., Khoury, M. J., et al. (2000). Neural-tube defects. The New England Journal of Medicine, 341, 1509–1519.CrossRefGoogle Scholar
  7. Bradley, L. A., Palomaki, G. E., McDowell, G. A., ONTD Working Group, & ACMG Laboratory Quality Assurance Committee. (2005). Technical standards and guidelines: Prenatal screening for open neural tube defects. Genetics in Medicine, 7, 355–369.PubMedCrossRefGoogle Scholar
  8. Bruner, J. P., Tulpan, N., Paschall, R. L., et al. (1999). Fetal surgery for myelomeningocele and the incidence of shunt-dependent hydrocephalus. Journal of the American Medical Association, 282, 1819–1825.PubMedCrossRefGoogle Scholar
  9. Budorick, N. E., Pretorius, D. H., McMahan, J. P., et al. (1995). Cephalocele detection in utero: Sonographic and clinicalfeatures. Ultrasound in Obstetrics & Gynecology, 5, 77–85.CrossRefGoogle Scholar
  10. Cameron, M., & Moran, P. (2009). Prenatal screening and diagnosis of neural tube defects [Review]. Prenatal Diagnosis, 29, 402–411.PubMedCrossRefGoogle Scholar
  11. Campbell, J., Gilbert, W. M., Nicolaides, K. H., et al. (1987). Ultrasound screening for spina bifida: Cranial and cerebellar signs in a high-risk population. Obstetrics and Gynecology, 70, 247–250.PubMedGoogle Scholar
  12. Centers for Disease Control and Prevention. (1996). Surveillance for anencephaly and spina bifida and the impact of prenatal diagnosis United States, 1985–1994. Morbidity and Mortality Weekly Report, 44(SS-4), 1–13.Google Scholar
  13. Cohen, M. M., Jr. (2002). Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 115, 245–268.CrossRefGoogle Scholar
  14. Cohen, M. M., Jr., & Lemire, R. J. (1982). Syndromes with cephaloceles. Teratology, 24, 161–172.CrossRefGoogle Scholar
  15. Copp, A. J., & Greene, N. D. E. (2010). Genetics and development of neural tube defects [Invited Review]. The Journal of Pathology, 220, 217–230.PubMedGoogle Scholar
  16. Czeizel, A. E., & Dudas, I. (1992). Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. The New England Journal of Medicine, 327, 1832–1835.PubMedCrossRefGoogle Scholar
  17. Doğan, M. M., Ekiki, E., Yapar, E. G., et al. (1996). Iniencephaly: Sonographic-pathologic correlation of 19 cases. Journal of Perinatal Medicine, 24, 501–511.PubMedCrossRefGoogle Scholar
  18. Drolet, B. A. (2000). Cutaneous signs of neural tube dysraphism. Pediatric Clinics of North America, 47, 813–823.PubMedCrossRefGoogle Scholar
  19. Ellenbeugen, R. G. (2009) Neural tube defects in the neonatal period. eMedicine from WebMD. Retrieved January 30, 2009. Available at: http://emedicine.medscape.com/article/1825866-overview.
  20. Erdincler, P., Kaynar, M. Y., Canbaz, B., et al. (1998). Iniencephaly: Neuroradiological and surgical features. Case report and review of the literature. Journal of Neurosurgery, 89, 317–320.PubMedCrossRefGoogle Scholar
  21. Fichter, M. A., Dornseifer, U., Henke, J., et al. (2008). Fetal spina bifida repair-current trends and prospects of intrauterine neurosurgery. Fetal Diagnosis and Therapy, 23, 271–286.PubMedCrossRefGoogle Scholar
  22. Golden, J. A., & Bonnemann, C. G. (1999). Developmental structural disorders, Ch 28. In C. G. Goetz (Ed.), Textbook of clinical neurology (1st ed., pp. 510–537). Philadelphia, PA: W. B. Saunders.Google Scholar
  23. Gorlin, R. J., Cohen, M. M., Jr., & Henneckan, R. C. M. (2001). Syndromes of the head and neck (4th ed.). New York: Oxford University Press.Google Scholar
  24. Hall, J. G., & Soelhdin, F. (1999). Genetics of neural tube defects. Mental Retardation and Developmental Disabilities Research Reviews, 4, 269–281.CrossRefGoogle Scholar
  25. Hunter, A. G. W. (1993). Brain and spinal cord. In R. E. Stevenson, J. G. Hall, & R. M. Goodman (Eds.), Human malformations and related anomalies (Vol. 2, pp. 109–137). New York: Oxford University Press.Google Scholar
  26. Iqbal, M. M. (2000). Prevention of neural tube defects by periconceptional use of folic acid. Pediatrics in Review, 21, 58–66.PubMedCrossRefGoogle Scholar
  27. Kjaer, I., Mygind, H., & Hansen, B. F. (1999). Notochordal remnants in human iniencephaly suggest disturbed dorsoventral axis signaling. American Journal of Medical Genetics, 84, 425–432.PubMedCrossRefGoogle Scholar
  28. Kölble, N., Houseman, T. A. G. M., Stallmach, T., et al. (2001). Prenatal diagnosis of a fetus with lumbar myelocystocele. Ultrasound in Obstetrics & Gynecology, 18, 536–539.CrossRefGoogle Scholar
  29. Kulaylat, N. A., & Narchi, H. (2000). Iniencephaloy: An uncommon neural tube defect. Journal of Pediatrics, 136, 414.PubMedCrossRefGoogle Scholar
  30. Lemire, R. J., Beckwith, J. B., & Warkany, J. (1978). Anencephaly. New York: Raven.Google Scholar
  31. Lemire, R. J., Graham, C. B., & Beckwith, J. B. (1971). Sin-covered sacrococygeal masses in infants and children. Journal of Pediatrics, 79, 948–954.PubMedCrossRefGoogle Scholar
  32. Lindfors, K. K., McGahan, J. P., Tennant, F. P., et al. (1987). Midtrimester screening for open neural tube defects: Correlation of sonography with amniocentesis results. American Journal of Roentgenology, 149, 141–145.PubMedGoogle Scholar
  33. Manning, S. M., Jennings, R., & Madsen, J. R. (2000). Pathophysiology, prevention, and potential treatment of neural tube defects. Mental Retardation and Developmental Disabilities Research Reviews, 6, 6–14.PubMedCrossRefGoogle Scholar
  34. McAtee-Smith, J., Hebert, A. A., Rapini, R. P., et al. (1994). Skin lesions of the spinal axis and spinal dysraphism. Fifteen cases and a review of the literature. Archives of Pediatrics & Adolescent Medicine, 148, 740–748.CrossRefGoogle Scholar
  35. Milunsky, A., Jick, H., Jick, S. S., et al. (1989). Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. Journal of the American Medical Association, 262, 2847–2852.PubMedCrossRefGoogle Scholar
  36. Molloy, A. M., Mills, J. L., & Kirke, P. N. (1999). Folate status and neural tube defects. BioFactors, 10, 291–294.PubMedCrossRefGoogle Scholar
  37. Morocz, I., Szeifert, G. T., Molnar, P., et al. (1986). Prenatal diagnosis and pathoanatomy of iniencephaly. Clinical Genetics, 30, 81–86.PubMedCrossRefGoogle Scholar
  38. Naldich, T. P., Altman, N. R., Braffman, B. H., et al. (1992). Cephaloceles and related malformations. American Journal of Neuroradiology, 13, 655–690.Google Scholar
  39. Nicolaides, K. H., Gabbe, S., Camphell, S., et al. (1986). Ultrasound screening for spina bifida, cranial and cerebellar signs. Lancet, 12, 72–74.CrossRefGoogle Scholar
  40. Norman, M. G., McGillivray, B. C., Kalousek, D. K., et al. (1995). Congenital malformations of the brain: Pathologic, embryologic, clinical radiologic and genetic aspects. New York: Oxford University Press.Google Scholar
  41. Rintoul, N. E., Sutton, L. N., Hubbard, A. M., et al. (2002). A new look at myelomeningoceles: Functional level, vertebral level, shunting, and the implications for fetal intervention. Pediatrics, 109, 409–413.PubMedCrossRefGoogle Scholar
  42. Robinson, H. P., Hood, V. D., Adam, A. H., et al. (1980). Diagnostic ultrasound: Early detection of fetal neural tube defects. Obstetrics and Gynecology, 56, 705–710.PubMedGoogle Scholar
  43. Sahid, S. K., Sepulveda, W., Dezerega, V., et al. (2000). Iniencephaly: Prenatal diagnosis and management. Prenatal Diagnosis, 20, 202–205.PubMedCrossRefGoogle Scholar
  44. Saleem, S. N., Said, A.-H., Abdel-Raouf, M., et al. (2009). Fetal MRI in the evaluation of fetuses referred for sonographically suspected neural tube defects (NTDs): Impact on diagnosis and management decision. Neuroradiology, 51, 761–772.PubMedCrossRefGoogle Scholar
  45. Smithells, R. W., Nevin, N. C., Seller, M. J., et al. (1983). Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet, 1, 1027–1031.PubMedCrossRefGoogle Scholar
  46. Srinivas, D., Sharma, B. S., & Mahapatr, A. S. (2008). Triple neural tube defect and the multi-site closure theory for neural tube defects: Is there an additional site? Journal of Neurosurgery. Pediatrics, 1, 160–163.PubMedCrossRefGoogle Scholar
  47. Steinbok, P., & Cochrane, D. D. (1991). The nature of congenital posterior cervical or cervicothoracic midline cutaneous mass lesions. Journal of Neurosurgery, 75, 206–211.PubMedCrossRefGoogle Scholar
  48. Stoll, C., Alembik, Y., & Dott, B. (2007). Associated malformations in cases with neural tube defects. Genetic Counseling, 18, 209–215.PubMedGoogle Scholar
  49. Stone, D. H. (1987). The declining prevalence of anencephalus and spina bifida: Its nature, causes and implications. Developmental Medicine and Child Neurology, 29, 541–549.PubMedCrossRefGoogle Scholar
  50. Talipan, N., Bruner, J. P., Hernanz-Schulman, M., et al. (1999). Effect of intrauterine myelomeningocele repair on central nervous system structure and function. Pediatric Neurosurgery, 31, 183–188.CrossRefGoogle Scholar
  51. Talipan, N., Hernanz-Schulman, M., Lowe, L. H., et al. (1999). Intrauterine myelomeningocele repair reverses preexisting hindbrain herniation. Pediatric Neurosurgery, 31, 137–142.CrossRefGoogle Scholar
  52. Tekkök, I. H. (2005). Triple neural tube defect-cranium bifidum with rostral and caudal spina bifida-live evidence of multi-site closure of the neural tube in humans. Child’s Nervous System, 21, 331–335.PubMedCrossRefGoogle Scholar
  53. Van den Hof, M., Nicolaides, K. H., Campbell, J., et al. (1990). Evaluation of the lemon and banana signs in one hundred thirty fetuses with open spina bifida. American Journal of Obstetrics and Gynecology, 162, 322–327.PubMedGoogle Scholar
  54. van der Put, N. M. J., Steegers-Theunissen, R. P., et al. (1995). Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet, 346, 1070–1071.PubMedCrossRefGoogle Scholar
  55. Vashu, R., & Liew, N. S. (2010). Double neural tube defect: A case report and discussions on neural tube development. Child’s Nervous System, 26, 697–701.PubMedCrossRefGoogle Scholar
  56. Warkany, J., Lemire, R. J., & Cohen, M. M., Jr. (1981). Mental retardation and congenital malformations of the central nervous system. Chicago, IL: Year Book Medical.Google Scholar

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