Neural-tube defects

New England Journal of Medicine

Volumn 341, Issue 20, 1999, Pages 1509-1519

  Botto, Lorenzo D ^a   Moore, Cynthia A ^a   Khoury, Muin J ^a   Erickson, J David ^a  

^a NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID;

ANENCEPHALUS; CHINA; CLINICAL FEATURE; DISEASE CLASSIFICATION; GENETIC PREDISPOSITION; HUMAN; INFANT; MATERNAL CARE; NEURAL TUBE DEFECT; PRIORITY JOURNAL; PROPHYLAXIS; REVIEW; SPINA BIFIDA; UNITED STATES;

COST OF ILLNESS; DIETARY SUPPLEMENTS; FOLIC ACID; HUMANS; NEURAL TUBE DEFECTS; PRECONCEPTION CARE;

EID: 0033547432     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199911113412006     Document Type: Review

References (100)

1. Cragan JD, Roberts HE, Edmonds LD, et al. Surveillance for anencephaly and spina bifida and thé impact of prenatal diagnosis - United States, 1985-1994. MMWR CDC Surveill Summ 1995;44(SS-4):1-13.
2. Shibuya K, Murray CJL. Congenital anomalies. In: Murray CJL, Lopez AD, eds. Health dimensions of sex and reproduction: the global burden of sexually transmitted diseases, HIV, maternal conditions, perinatal disorders, and congenital anomalies. Vol. 3. Boston: Harvard University Press, 1998:455-512.
3. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991; 338:131-7.
4. Czeizel AE, Dudás I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 1992; 327:1832-5.
5. Berry RJ, Li Z, Erickson JD, et al. Preventing neural-tube defects with folic acid in China. N Engl J Med 1999;341:1485-90.
6. Food and Drug Administration. Food standards: amendment of standards of identity for enriched grain products to require addition of folic acid. Fed Regist 1996;61(44):8781-97.
7. Institute of Medicine. Dietary reference intakes for thiamin, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. Washington, D.C.: National Academy Press, 1998:8-1.
8. Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Morb Mortal Wkly Rep 1992;41(RR-14):1-7.
9. Juriloff DM, Harris MJ. Animal models of neural tube defects. Ment Retard Dev Disabil Res Rev 1998;4:254-63.
10. Copp AJ. Prevention of neural tube defects: vitamins, enzymes and genes. Curr Opin Neurol 1998;11:97-102.
11. Wald NJ, Kennard A. Prenatal screening for neural tube defects and Down syndrome. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's principles and practice of medical genetics. 3rd ed. Vol. 1. New York: Churchill Livingstone, 1997:545-62.
12. Hunter AGW. Brain and spinal cord. In: Stevenson RE, Hall JG, Goodman RM, eds. Human malformations and related anomalies. Vol. 2. Oxford monographs on medical genetics no. 27. New York: Oxford University Press, 1993:109-37.
13. Moore CA, Li S, Li Z, et ai. Elevated rates of severe neural tube defects in a high-prevalence area in northern China. Am J Med Genet 1997;73:113-8.
14. Lemire RJ. Neural tube defects. JAMA 1988;259:558-62.
15. Holmes LB, Driscoll SG, Atkins L. Etiologic heterogeneity of neural-tube defects. N Engl J Med 1976;294:365-9.
16. Sadler TW. Mechanisms of neural tube closure and defects. Ment Retard Dcv Disabil Res Rev 1998;4:247-53.
17. Campbell LR, Sohal GS. The pattern of neural tube defects created by secondary reopening of the neural tube. J Child Neurol 1990;5:336-40.
18. Van Allen MI, Kalousek DK, Chernoff GF, et al. Evidence for multisite closure of the neural tube in humans. Am J Med Genet 1993;47:723-43.
19. Sakai Y. Neurulation in the mouse: manner and timing of neural tube closure. Anat Rec 1989;223:194-203.
20. Copp AJ. The neural tube. In: Thorogood P, ed. Embryos, genes and birth defects. Chichester, England: John Wiley, 1997:133-52.
21. Bell JE, Gosden CM. Central nervous system abnormalities - contrasting patterns in early and late pregnancy. Clin Genet 1978;13:387-96.
22. Little J, Elwood JM. Fetal loss. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monograph in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:324-34.
23. Lynberg MC, Khoury MJ. Contribution of birth defects to infant mortality among racial/ethnic minority groups, United States, 1983. MMWR CDC Surveill Summ 1990;39(SS-3):1-12.
24. den Ouden AL, Hirasing RA, Buitendijk SE, de Jong-van den Berg LTW, de Walle HEK, Cornel MC. Prevalentie, klinisch beeld en prognose van neuralebuisdefecten in Nederland. Ned Tijdschr Geneeskd 1996;140: 2092-5.
25. Shurtleff DB, Luthy DA, Nyberg DA, Benedetti TJ, Mack LA. Meningomyelocele: management in utero and post natum. Ciba Found Symp 1994;181:270-86.
26. Hunt GM. The median survival time in open spina bifida. Dev Med Child Neural 1997;39:568.
27. Date I, Yagyu Y, Asari S, Ohmoto T. Long-term outcome in surgically treated spina bifida cystica. Surg Neurol 1993;40:471-5.
28. Zurmohle UM, Homann T, Schroeter C, Rothgerber H, Hommel G, Ermert JA. Psychosocial adjustment of children with spina bifida. J Child Neurol 1998;13:64-70.
29. An assessment of total costs and policy implications. In: Waitzman NJ, Scheffler RM, Romano PS. The cost of birth defects: estimates of the value of prevention. Lanham, Md.: University Press of America, 1996:145-77.
30. Drewek MJ, Bruner JP, Whetsell WO, Tulipan N. Quantitative analysis of the toxicity of human amniotic fluid to cultured rat spinal cord. Pediatr Ncurosurg 1997;27:190-3.
31. Meuli M, Meuli-Simmen C, Hutchins GM, Seller MJ, Harrison MR, Adzick NS. The spinal cord lesion in human fetuses with myelomeningocele: implications for fetal surgery. J Pediatr Surg 1997;32:448-52.
32. Owen J. Prophylactic cesarean for prenatally diagnosed malformations. Clin Obstct Gynecol 1998;41:393-404.
33. Bruner JP, Richards WO, Tulipan NB, Arney TL. Endoscopic coverage of fetal myelomeningocele in utero. Am J Obstet Gynecol 1999;180:153-8.
34. Adzick NS, Sutton LN, Crombleholme TM, Flake AW. Successful fetal surgery for spina bifida. Lancet 1998;352:1675-6.
35. Tulipan N, Bruner JP. Myelomeningocele repair in utero: a report of three cases. Pediatr Neurosurg 1998;28:177-80.
36. Meuli M, Meuli-Simmen C, Hutchins GM, et al. In utero surgery rescues neurological function at birth in sheep with spina bifida. Nat Med 1995;1:342-7.
37. Tulipan N, Bruner JP. Fetal surgery for spina bifida. Lancet 1999;353: 406.
38. McDonald CM. Rehabilitation of children with spinal dysraphism. Neurosurg Clin North Am 1995;6:393-412.
39. Kinsman SL, Doehring MC. The cost of preventable conditions in adults with spina bifida. Eur J Pediatr Surg 1996;6:Suppl 1:17-20.
40. Szepfalusi Z, Seidl R, Bernert G, Dietrich W, Spitzauer S, Urbanek R. Latex sensitization in spina bifida appears disease-associated. J Pediatr 1999;134:344-8.
41. Cremer R, Kleine-Diepenbruck U, Hoppe A, Blaker F. Latex allergy in spina bifida patients - prevention by primary prophylaxis. Allergy 1998; 53:709-11.
42. Rotenstein D, Breen TJ. Growth hormone treatment of children with myelomeningocele. J Pediatr 1996;128:S28-S31.
43. Little J, Elwood JM. Geographical variation. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monographs in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:96-145.
44. International Centre for Birth Defects, EUROCAT. World atlas of birth defects. Geneva: World Health Organization, 1998:20-31.
45. International Clearinghouse for Birth Defects Monitoring Systems. Annual report 1998: with data for 1996. Rome: International Centre for Birth Defects, 1998:100-1.
46. Little J, Elwood JM. Seasonal variation. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monographs in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:195-246.
47. Elwood JM, Little J. Secular trends. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monographs in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:168-94.
48. Little J, Elwood JM. Ethnic origin and migration. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monographs in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:146-67
49. Lary JM, Edmonds LD. Prevalence of spina bifida at birth -United States, 1983-1990: a comparison of two surveillance systems. MMWR CDC Surveill Summ 1996;45(SS-2):15-26.
50. Little J, Elwood JH. Socio-economic status and occupation. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monographs in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:456-520.
51. Wasserman CR, Shaw GM, Selvin S, Gould JB, Syme SL. Sociocconomic status, neighborhood social conditions, and neural tube defects. Am J Public Health 1998;88:1674-80.
52. Becerra JE, Khoury MJ, Cordero JF, Erickson JD. Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study. Pediatrics 1990;85:1-9.
53. Elwood JM, Little J, Elwood H. Maternal illness and drug use in pregnancy. In: Elwood JM, Little J, Elwood JH, eds. Epidemiology and control of neural tube defects. Vol. 20 of Monographs in epidemiology and biostatistics. Oxford, England: Oxford University Press, 1992:414-55.
54. Lammer EJ, Sever LE, Oakley GP Jr. Teratogen update: valproic acid. Teratology 1987;35:465-73.
55. Edwards MJ, Shiota K, Smith MSR, Walsh DA. Hyperthermia and birth defects. Reprod Toxicol 1995;9:411-25.
56. Graham JM Jr, Edwards MJ, Edwards MJ. Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans. Teratology 1998;58:209-21.
57. Werler MM, Louik C, Shapiro S, Mitchell AA. Prepregnant weight in relation to risk of neural tube defects. JAMA 1996;275:1089-92.
58. Watkins ML, Scanlon KS, Mulinare J, Khoury MJ. Is maternal obesity a risk factor for anencephaly and spina bifida? Epidemiology 1996;7:507-12.
59. Shaw GM, Velie EM, Schaffer D. Risk of neural tube defect-affected pregnancies among obese women. JAMA 1996;275:1093-6.
60. Waller DK, Mills JL, Simpson JL, et al. Are obese women at higher risk for producing malformed offspring? Am J Obstet Gynecol 1994;170: 541-8.
61. Sever LE. Looking for causes of neural tube defects: where does the environment fit in? Environ Health Perspect 1995;103:Suppl 6:165-71.
62. Smithells RW, Sheppard S, Schorah CJ. Vitamin deficiencies and neural tube defects. Arch Dis Child 1976;51:944-50.
63. Smithells RW, Nevin NC, Seller MJ, et al. Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet 1983;1:1027-31.
64. Mulinare J, Cordero JF, Erickson JD, Berry RJ. Periconceptional use of multivitamins and the occurrence of neural tube defects. JAMA 1988; 260:3141-5.
65. Bower C, Stanley FJ. Dietary folate as a risk factor for neural-tube defects: evidence from a case-control study in western Australia. Med J Aust 1989;150:613-9.
66. Mills JL, Rhoads GG, Simpson JL, et al. The absence of a relation between the periconceptional use of vitamins and neural-tube defects. N Engl J Med 1989;321:430-5.
67. Milunsky A, Jick H, Jick SS, et al. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA 1989;262:2847-52.
68. Werler MM, Shapiro S, Mitchell AA. Periconceptional folic acid exposure and risk of occurrent neural tube defects. JAMA 1993;269:1257-61.
69. Shaw GM, Schaffer D, Velie EM, Morland K, Harris JA. Periconceptional vitamin use, dietary folate, and the occurrence of neural tube defects. Epidemiology 1995;6:219-26.
70. Laurence KM, James N, Miller MH, Tennant GB, Campbell H. Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects. BMJ 1981;282:1509-11.
71. Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. Vol. 2. New York: McGraw-Hill, 1995:3111-28.
72. Steegers-Theunissen RP, Boers GH, Trijbels FJ, et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994; 43:1475-80.
73. Mills JL, McPartlin JM, Kirke PN, et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet 1995;345:149-51.
74. Botto LD, Yang Q. MTHFR and birth defects: a HuGE review. Atlanta: Centers for Disease Control and Prevention, 1999. (See http:// www.cdc.gov/genetics/hugenet/reviews.htm.) (See NAPS document no. 05532 for 24 pages, c/o Microfiche Publications, 248 Hempstead Tpk., West Hempstead, NY 11552.)
75. Rozen R. Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 1997;78:523-6.
76. Ramsbottom D, Scott JM, Molloy A, et al. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet 1997;51:39-42.
77. Botto LD, Mastroiacovo P. Exploring gene-gene interactions in the etiology of neural tube defects. Clin Genet 1998;53:456-9.
78. Morrison K, Papapetrou C, Hol FA, et al. Susceptibility to spina bifida: an association study of five candidate genes. Ann Hum Genet 1998;62: 379-96.
79. Trembath D, Sherbondy AL, Vandyke DC, et al. Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. Teratology 1999;59:331-41.
80. van der Put NM, Gabreels F, Stevens EM, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-51.
81. 12) increases risk for spina bifida. Mol Genet Metab 1999;67:317-23.
82. Christensen B, Arbour L, Tran P, et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 1999; 84:151-7.
83. Shaw GM, Rozen R, Finnell RH, Wasserman CR, Lammer EJ. Maternal vitamin use, generic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol 1998;148:30-7.
84. Botto LD, Mulinarc J. Re: "maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida." Am J Epidemiol 1999;150:323-4.
85. Forrest JD. Epidemiology of unintended pregnancy and contraceptive use. Am J Obstet Gynecol 1994;170:1485-9.
86. Cornel MC, Erickson JD. Comparison of national policies on periconceptional use of folic acid to prevent spina bifida and anencephaly (SBA). Teratology 1997;55:134-7
87. Oakley GP Jr. Let's increase folic acid fortification and include vitamin B-12. Am J Clin Nutr 1997;65:1889-90.
88. Institute of Medicine. Dietary reference intakes for thiamin, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. Washington, D.C.: National Academy Press, 1998:8-11.
89. Jacques PF, Selhub J, Bostom AG, Wilson PWF, Rosenberg IH. The effect of folic acid fortification on plasma folate and total homocysteme concentrations. N Engl J Med 1999;340:1449-54.
90. Lawrence JM, Petitti DB, Watkins M, Umekubo MA. Trends in serum folate after food fortification. Lancet 1999;354:915-6.
91. Cuskelly GJ, McNulty H, Scott JM. Effect of increasing dietary folate on red-cell folate: implications for prevention of neural tube defects. Lancet 1996;347:657-9.
92. Bekkers RL, Eskes TK. Periconceptional folic acid intake in Nijmegen, Netherlands. Lancet 1999;353:292.
93. de Walle HE, de Jong-van den Berg LT, Cornel MC. Periconceptional folic acid intake in the northern Netherlands. Lancet 1999;353:1187.
94. Knowledge and use of folic acid by women of childbearing age -United States, 1995 and 1998. MMWR Morb Mortal Wkly Rep 1999;48:325-7
95. Liptak GS. Controversies in the treatment of neural tube defects with neurological deterioration. Ment Retard Dev Disabil Res Rev 1998;4:296-301.
96. Shaw GM, Velie EM, Schaffer DM. Is dietary intake of methionine associated with a reduction in risk for neural tube defect-affected pregnancies? Teratology 1997;56:295-9.
97. Kirke PN, Molloy AM, Daly LE, Burke H, Weir DG, Scott JM. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects. QJM 1993;86:703-8.
98. Daly S, Mills JL, Molloy AM, et al. Minimum effective dose of folic acid for food fortification to prevent neural-tube defects. Lancet 1997;350: 1666-9.
99. Wald NJ, Law M, Jordan R. Folic acid food fortification to prevent neural tube defects. Lancet 1998;351:834.
100. Hall J, Solehdin F. Folic acid for the prevention of congenital anomalies. Eur J Pediatr 1998;157:445-50.