Neural tube defects

doi:10.1017/CBO9780511997778.032

Chapter 16.1 - Neural tube defects

Pathophysiology and prevention

from Section 2 - Fetal disease

Published online by Cambridge University Press: 05 February 2013

Daniel Challis and

Edited by

Anthony Johnson and

Mark D. Kilby: Affiliation:
Department of Fetal Medicine, University of Birmingham
Anthony Johnson: Affiliation:
Baylor College of Medicine, Texas
Dick Oepkes: Affiliation:
Department of Obstetrics, Leiden University Medical Center

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Summary

Introduction

Neural tube defects (NTDs) are among the most common major congenital abnormalities worldwide, with birth incidence varying between 0.5 and 2 per 1000 births. The incidence is known to vary according to geography and race, with historically higher rates seen in China, Egypt, and India (greater than 8 per 1000 births). Worldwide rates however have been steadily declining. In England the rates peaked between 1954 and 1955 with a substantial decrease seen since, starting in the early 1970s. This decline predated widespread preventative strategies and is unlikely to be explained entirely by prenatal screening. Further reductions have been seen in recent years which have been attributed to the successful preventative strategy of folate supplementation. Current rates are as low as 0.6 per 1000 births in the United States and other countries that have folate food fortification strategies in place.

Open NTDs result from failure of the embryonic process of neural tube closure. This leaves brain or spinal cord neural tissue exposed to the extra-embryonic environment. The spectrum of malformations defined as NTDs include anencephaly, encephalocele, and spina bifida.

Keywords

neural tube defects folate genetic syndromes hyperthermia obesity twinning diabetes amniotic bands anti-folate medications

Type: Chapter
Information: Fetal Therapy
Scientific Basis and Critical Appraisal of Clinical Benefits
, pp. 301 - 310

DOI: https://doi.org/10.1017/CBO9780511997778.032 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2012

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References

Copp, A, Greene, N. Genetics and development of neural tube defects. J Pathol 2010;220(2):217–30Google Scholar

Smithells, RW, Sheppard, S, Schorah, C. Possible prevention of neural tube defects by periconceptional vitamin supplementation. Lancet 1980;1(8164);339–40.Google Scholar

MRC, VSRG. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991;338:131–7.Google Scholar

Czeizel, AE, Ducas, I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992;327:1832–5.Google Scholar

Berry, RJ, Erickson, JD, Moore, CA. Prevention of neural tube defects with folic acid in China. China-US collaborative project for neural tube defect prevention. N Engl J Med 1999;341(20):1485–90.Google Scholar

De-Regil, LM, Fernández-Gaxiola, AC, Dowswell, T, Peña-Rosas, JP. Effects and safety of periconceptional folate supplementation for preventing birth defects. Cochrane Database Syst Rev 2010; (10)CD007950.Google Scholar

Stockley, L, Lund, V. Use of folic acid supplements, particularly by low-income and young women: a series of systematic reviews to inform public health policy in the UK. Public Health Nutr 2008;11:807–21.Google Scholar

Mandatory folic acid fortification in Australia. Food Standards Australia New Zealand, 2009.

Honein, MA, Paulozzi, LJ, Mathews, TJ, Erickson, JD, Wong, LY. Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. JAMA 2001;285:2981–6.Google Scholar

Joint SOGC-Motherisk clinical practice guideline. Pre-conceptional Vitamin/Folic Acid Supplementation 2007: The Use of Folic Acid in Combination with a Multivitamin Supplement for the Prevention of Neural Tube Defects and Other Congenital Anomalies. No. 201 (Replaces guideline No. 138), December 2007.

Royal College of Obstetricians and Gynaecologists. Periconceptional folic acid and food fortification in the prevention of neural tube defects. Scientific Advisory Committee Opinion Paper 4 April 2003.

Whitehead, AS, Gallagher, P, Mills, JL, et al. A genetic defect in 5, 10 methylenetetrahydrofolate reductase in neural tube defects. QJM 1995;88:763–6.Google Scholar

Shaer, CM, Chescheir, N, Schulkin, J. Myelomeningocele: a review of the epidemiology, genetics, risk factors for conception, prenatal diagnosis and prognosis for affected individuals. Obstet Gynecol Surv 2007;62(7):471–79.Google Scholar

Hume, RF Jr, Drugan, A, Reichler, A, et al. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet 1996;61(2):171–3.Google Scholar

Kennedy, D, Chitayat, D, Winsor, EJ, et al. Prenatally diagnosed neural tube defects; ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet 1998;77:317–21.Google Scholar

Babcook, CJ, Goldstein, RB, Filly, RA. Prenatally detected fetal myelomeningocele: is karyotype analysis warranted? Radiology 1995;194(2):491–4.Google Scholar

Sepulveda, W, Corral, E, Ayala, C, et al. Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol 2004;23(4):352–6.Google Scholar

Hunter, AGW. Brain and spinal cord. In: Stevenson, RE, Hall, JG, Goodman, RM, eds. Human Malformations and Related Anomalies, Vol. 11. New York, Oxford University Press, 1993; 116.

Hunter, AGW. Neural tube defects in Eastern Ontario and Western Quebec; demography and family data. Am J Med Genet 1984;19:45–63.Google Scholar

Chen, CP. Syndromes, disorders and maternal risk factors associated with neural tube defects (I-VII). Taiwan J Obstet Gynecol 2008;47(1):1–17. 47(2):131–49. 47(3):267–82.Google Scholar

Rasmussen, SA, Chu, SY, Kim, SY, Schmid, CH. Maternal obesity and risk of neural tube defects: a metaanalysis. Am J Obstet Gynecol 2008;198(6):611–19.Google Scholar

Stothard, K, Tennant, P, Bell, R, Rankin, J. Maternal overweight and obesity and the risk of congenital anomalies; a systematic review and meta-analysis. JAMA 2009;301(6):636–50.Google Scholar

Salbaum, JM, Kappen, C. Neural tube defect genes and maternal diabetes during pregnancy. Birth Defects Res A 2010;88:601–11.Google Scholar

Ray, JG, Vermeulen, MJ, Meier, C. Risk of congenital anomalies detected during antenatal serum screening in women with pregestational diabetes. QJM 2004;97:651–3.Google Scholar

Shaw, G, Velie, E, Schaffer, D. Risk of neural tube defect-affected pregnancies among obese women. JAMA 1996;275:1093–6.Google Scholar

Mojtabai, R. Body mass index and serum folate in childbearing women. Eur J Epidemiol 2004;19:1029–36.Google Scholar

Carmichael, S, Rasmussen, S, Shaw, G. Prepregnancy obesity: a complex risk factor for selected birth defects. Birth Defects Res A 2010;88:804–10.Google Scholar

Valproic acid. Reprotox, Micromedex database, 2011.

Carbamazepine. Reprotox, Micromedex database 2011.

Hunt, S, Russell, A. Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register. Neurology 2008;71:272–6.Google Scholar

Methotrexate. Reprotox, Micromedex database, 2011.

Suarez, L, Frelkner, M, Brender, J. Maternal exposures to cigarette smoke, alcohol, and street drugs and neural tube defect occurrence in offspring. Matern Child Health J 2008;12:394–401.Google Scholar

Graham, JM. Edwards, MJ. Discoverer of maternal hyperthermia as a human teratogen. Birth Defects Res A 2005;73(11):857–64.Google Scholar

Milunsky, A. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 3rd edn. Baltimore, Johns Hopkins University Press. 1992; 1.

Bulman, MC, Hodgson, AJ, Sadler, TW. Hyperthermia-induced neural tube defects: the protective effect of folic acid. International Thermal Physiology Symposium, August 2001. 32(2) Supplement 1.Google Scholar

Moretti, ME, Bar-Oz, B, Fried, S, Koren, G. Maternal hyperthermia and the risk for neural tube defects in offspring: systematic review and meta-analysis. Epidemiology 2005;16:216–19.Google Scholar

Zhiwen, L, Aiguo, R, Le, Z, Zhanying, G. A population-based case–control study of risk factors for neural tube defects in four high-prevalence areas of Shanxi province, China. Paediatr Perinat Ep 2006;20(1):43–53.Google Scholar

Milunsky, A, Ulcickas, M, Rothman, KJ, et al. Maternal heat exposure and neural tube defects. JAMA 1992;268:882–5.Google Scholar

Karaman, A, Kahveci, H, Tos, T. Amniotic band sequence associated with fronto-ethmoidal meningoencephalocele: case report. Clin Genet 2010;78(Suppl 1):17.Google Scholar

Donkelaara, HJ, Hamelb, BCJ, Hartmanc, E. Intestinal mucosa on top of a rudimentary occipital meningocele in amniotic rupture sequence: disorganization-like syndrome, homeotic transformation, abnormal surface encounter or endoectodermal adhesion? Clin Dysmorphol 2002;11:9–13.Google Scholar

Jackson, T. Open thoracic meningocele associated with amniotic band syndrome. Pediatr Neurosurg 2001;34:252–4.Google Scholar

Eren, E, Buyukyavuz, I, Ayata, A. Amniotic band syndrome associated with sacral meningocele and anal atresia. Pediatr Int 2010;52(3):505–6.Google Scholar

Morovic, CG, Berwart, F, Varas, J. Craniofacial anomalies of the amniotic band syndrome in serial clinical cases. Plast Reconstr Surg 2004;113(6):1556–62.Google Scholar

Hay, S, Wehrung, DA. Congenital malformations in twins. Am J Hum Genet 1970;22:662–78.Google Scholar

Etiology, Padmanabhan R., pathogenesis and prevention of neural tube defects. Congenit Anom (Kyoto) 2006;46(2):55–67.Google Scholar

Windham, GC, Sever, LE. Neural tube defects among twin births. Am J Hum Genet 1982;34:988–98.Google Scholar

Kallen, B. Congenital malformations in twins. A population study. Acta Genet Med Gemellol (Roma), 1986;35:167–78.Google Scholar

Kallen B, Cocchi G. International study of sex ratio and twining of neural tube defects. Teratology 1994;50(5):322–31.Google Scholar

Luke B, Keith L. Monozygotic twinning as a congenital defect and congenital defects in monozygotic twins. Fetal Diagn Ther 1990;5(2):61.Google Scholar

James, W. Twinning and anencephaly. Ann Hum Biol 1976;3(5):401–9.Google Scholar

Syndromes, Chen C., disorders and maternal risk factors associated with neural tube defects (v). Taiwan J Obstet Gynecol 2008;47(3):259–66.Google Scholar

Au, KS, Ashley-Koch, A. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev 2010;16(1):6–15.Google Scholar

Deak, K, Siegel, D, George, S. Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res A 2008;82(10):662–9.Google Scholar

Detrait, E, George, T, Etchevers, J. Human neural tube defects: developmental biology, epidemiology and genetics. Neurotoxicol Teratol 2005;27(3):515–24.Google Scholar

Book contents

Chapter 16.1 - Neural tube defects

Summary

Keywords

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References

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