Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-5nwft Total loading time: 0 Render date: 2024-05-11T04:07:44.586Z Has data issue: false hasContentIssue false

Chapter 16.1 - Neural tube defects

Pathophysiology and prevention

from Section 2 - Fetal disease

Published online by Cambridge University Press:  05 February 2013

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
Get access

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.

Type
Chapter
Information
Fetal Therapy
Scientific Basis and Critical Appraisal of Clinical Benefits
, pp. 301 - 310
Publisher: Cambridge University Press
Print publication year: 2012

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×