Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Berry RJ, Li Z, Erickson JD, Li S, Moore CA, Wang H et al (1999). Prevention of neural tube defects with folic acid in China: China-US Collaborative Project for Neural Tube Defect Prevention. N Engl J Med 341:1485–90
Botto LD, Yang Q (2000). 5,10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151:862–77
Botto LD, Olney RS, Erickson JD (2004). Vitamin supplements and the risk for congenital anomalies other than neural tube defects. Am J Med Genet 125C: 12–21
Botto LD, Lisi A, Robert-Gnansia E, Erickson JD, Vollset SE, Mastroiacovo P, Botting B, Cocchi G, de Vigan C, de Walle H, Feijoo M, Irgens LM, McDonnell B, Merlob P, Ritvanen A, Scarano G, Siffel C, Metneki J, Stoll C, Smithells R, Goujard J (2005). International retrospective cohort study of neural tube defects in relation to folic acid recommendations: Are the recommendations working? Br Med J 12:571.
Brody LC, Conley M, Cox C, Kirke PN, McKeever MP, Mills JL, Molloy AM, O’Leary VB, Parle-McDermott A, Scott JM, Swanson DA (2002). A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/ methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet 71:1207–15.
Castilla EE, Orioli IM, Lopez-Camelo JS, Dutra Mda G, Nazer-Herrera J (2003). Latin American Collaborative Study of Congenital Malformations (ECLAMC). Preliminary data on changes in neural tube defect prevalence rates after folic acid fortification in South America. Am J Med Genet 1:123–8
Central Technical Co-ordinating Unit, ICMRCentral Technical Co-ordinating Unit, ICMR (2000). Multicentric study of efficacy of periconceptional folic acid containing vitamin supplementation in prevention of open neural tube defects from India. Indian J Med Res 112:206–11.
Coelho CN, Weber JA, Klein NW, Daniels WG, Hoagland TA (1989). Whole rat embryos require methionine for neural tube closure when cultured on cow serum. J Nutr 119:1716–25.
Czeizel AE, Dudas I (1992). Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832–1835
Czeizel AE (1998). Periconceptional folic acid containing multivitamin supplementation. Eur J Obstet Gynecol Reprod Biol 78:151–61
de Bree A, van Dusseldorp M, Brouwer IA, van het Hof KH, Steegers-Theunissen RP (1997). Folate intake in Europe: recommended, actual and desired intake. Eur J Clin Nutr 51:643–60
de Franchis R, Botto LD, Sebastio G, Ricci R, Iolascon A, Capra V, Andria G, Mastroiacovo P (2002). Spina bifida and folate-related genes: a study of gene-gene interactions. Genet Med 4:126–30.
De Marco P, Calevo MG, Moroni A, Merello E, Raso A, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V (2003). Reduced folate carrier polymorphism (80A->G) and neural tube defects. Eur J Hum Genet 11:245–52.
Dias MS, Partington M (2004). Embryology of myelomeningocele and anencephaly. Neurosurg Focus 16:1–16
Epeldegui M, Pena-Melian A, Varela-Moreiras G, Perez-Miguelsanz J (2002). Homocysteine modifies development of neurulation and dorsal root ganglia in chick embryos. Teratology 65:171–9.
Greene ND, Copp AJ (1997). Inositol prevents folate-resistant neural tube defects in the mouse. Nat Med 3:60–6
Greene ND, Dunlevy LE, Copp AJ (2003). Homocysteine is embryotoxic but does not cause neural tube defects in mouse embryos. Anat Embryol (Berl) 206:185–91
Greene ND, Copp AJ (2005). Mouse models of neural tube defects: investigating preventive mechanisms. Am J Med Genet C 15:31–41.
Groenen PM, Peer PG, Wevers RA, Swinkels DW, Franke B, Mariman EC, Steegers-Theunissen RP (2003). Maternal myoinositol, glucose, and zinc status is associated with the risk of offspring with spina bifida. Am J Obstet Gynecol 189:1713–9.
Groenen PM, van Rooij IA, Peer PG, Gooskens RH, Zielhuis GA, Steegers-Theunissen RP (2004). Marginal maternal vitamin B12 status increases the risk of offspring with spina bifida. Am J Obstet Gynecol 191:11–7.
Hansen DK, Grafton TF, Melnyk S, James SJ (2001). Lack of embryotoxicity of homocysteine thiolactone in mouse embryos in vitro. Reprod Toxicol 15:239–44.
Hibbard ED, Smithells RW (1965). Folic acid metabolism and human embryopathy. Lancet 1: 1254.
Jacques PF, Selhub J, Bostom AG, Wilson PWF, Rosenberg IH (1999). The effect of folic acid fortification on plasma folate and total homocysteine concentrations. N Engl J Med 340:1449–54
Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM (1993). Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. Q J Med 86:703–8.
Laurence KM, James N, Miller MH, Tennant GB, Campbell H (1981). Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neuraltube defects. Br Med J (Clin Res Ed) 9:1509–11.
Lewis CJ, Crane NT, Wilson DB, Yetley EA (1999). Estimated folate intakes: data updated to reflect food fortification, increased bioavailability, and dietary supplement use. Am J Clin Nutr 70:198–207.
Mathews TJ, Honein MA, Erickson JD (2002). Spina bifida and anencephaly prevalence: United States, 1991–2001. MMWR Recomm Rep 13:9–11.
Medical Research Council Vitamin Study Research Group (1991). Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338:131–7
Mersereau P, Kilker K, Carter H, Fassett E, Williams J, Flores A, Prue C, Williams L, Mai C, Mulinare J. Spina bifida and anencephaly before and after folic acid mandate, United States, 1995–1996 and 1999–2000. MMWR 53: 362–5
Mills JL, McPartlin JM, Kirke PN, Lee YJ, Conley MR, Weir DG, Scott JM (1995). Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 345:149–151
Muller F, O’Rahilly R (1987). The development of the human brain, the closure of the caudal neuropore, and the beginning of secondary neurulation at stage 12. Anat Embryol (Berl) 176:413–30.
Nieuwkoop PD (1999). The neural induction process; its morphogenetic aspects. Int J Dev Biol 43:615–23
Persad VL, Van den Hof MC, Dube JM, Zimmer P (2002). Incidence of open neural tube defects in Nova Scotia after folic acid fortification. CMAJ 6:241–5.
Piedrahita JA, Oetama B, Bennett GD, van Waes J, Kamen BA, Richardson J, Lacey SW, Anderson RG, Finnell RH (1999). Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development. Nat Genet 23:228–32.
Quinlivan EP, Gregory JF 3rd (2003). Effect of food fortification on folic acid intake in the United States. Am J Clin Nutr 77:221–5.
Rader JI, Weaver CM, Angyal G (2000). Total folate in enriched cereal-grain products in the United States following fortification. Food Chem 70:275–89
Relton CL, Wilding CS, Pearce MS, Laffling AJ, Jonas PA, Lynch SA, Tawn EJ, Burn J (2004). Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. J Med Genet 41:256–60.
Rosenquist TH, Ratashak SA, Selhub J (1996). Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci USA 93:15227–32.
Shaw GM, Schaffer D, Velie EM, Morland K, Harris JA (1995). Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology 6:219–26.
Shaw GM, Carmichael SL, Yang W, Schaffer DM (2005). Periconceptional dietary intake of myo-inositol and neural tube defects in offspring. Birth Defects Res A Clin Mol Teratol 73:184–7.
Smithells RW, Sheppard S, Schorah CJ (1976). Vitamin deficiencies and neural tube defects. Arch Dis Child 51:944–50.
Smithells RW, Nevin NC, Seller MJ, Sheppard S, Harris R, Read AP, Fielding DW, Walker S, Schorah CJ, Wild J (1983). Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet 7:1027–31.
Spiegelstein O, Cabrera RM, Bozinov D, Wlodarczyk B, Finnell RH (2004). Folate-regulated changes in gene expression in the anterior neural tube of folate binding protein-1 (Folbp1)-deficient murine embryos. Neurochem Res 29:1105–12.
Steegers-Theunissen RPM, Boers GHJ, Trijbels JMF, Finkelstein JD, Blom HJ, Thomas CM, Borm GF, Wouters MG, Eskes TK (1994). Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 43:1475–80
Vanaerts LA, Blom HJ, Deabreu RA, Trijbels FJ, Eskes TK, Copius Peereboom-Stegeman JH, Noordhoek J (1994). Prevention of neural tube defects by and toxicity of L-homocysteine in cultured postimplantation rat embryos. Teratology 50:348–60.
van der Put NM, van den Heuvel LP, Steegers-Theunissen RP, Trijbels FJ, Eskes TK, Mariman EC, den Heyer M, Blom HJ (1996). Decreased methylene tetrahydrofolate reductase activity due to the 677C->T mutation in families with spina bifida offspring. J Mol Med 74:691–4.
van der Put NM, Thomas CM, Eskes TK, Trijbels FJ, Steegers-Theunissen RP, Mariman EC, De Graaf-Hess A, Smeitink JA, Blom HJ (1997). Altered folate and vitamin B12 metabolism in families with spina bifida offspring. QJM 90:505–10.
van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ (1998). A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 62:1044–51.
Vergel RG, Sanchez LR, Heredero BL, Rodriguez PL, Martinez AJ (1990). Primary prevention of neural tube defects with folic acid supplementation: Cuban experience. Prenat Diagn 10:149–52.
Werler MM, Shapiro S, Mitchell AA (1993). Periconceptional folic acid exposure and risk of occurrent neural tube defects. J Am Med Assoc 10:1257–61.
Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel AE, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick OM, Lopez MA, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martinez-Frias ML, Gallagher M, Erickson JD, Vollset SE, Mastroiacovo P, Andria G, Botto LD (2003). Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet 40:619–25.
Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R (1999). A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 67:317–23
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Andria, G., Scala, I. (2006). Genetic Risk Factors for Neural Tube Defects: Folic Acid Supplementation and Prevention of Birth Defects. In: Esposito, C., Guys, J.M., Gough, D., Savanelli, A. (eds) Pediatric Neurogenic Bladder Dysfunction. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-30867-9_5
Download citation
DOI: https://doi.org/10.1007/3-540-30867-9_5
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-30866-9
Online ISBN: 978-3-540-30867-6
eBook Packages: MedicineMedicine (R0)