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Nutrition992 papers

Neural tube defect

Last edited: 4/13/2026

Overview

Neural tube defects (NTDs) are congenital malformations resulting from incomplete closure of the neural tube during embryonic development, leading to anomalies such as spina bifida and anencephaly. These conditions are among the most common birth defects and can cause significant morbidity and mortality 26.

Diagnosis

  • Prenatal diagnosis through maternal serum alpha-fetoprotein (MSAFP) screening 26.
  • Ultrasound imaging to detect structural abnormalities 26.
  • Amniocentesis for definitive diagnosis, particularly for anencephaly 26.
  • Postnatal physical examination and imaging studies (MRI, CT scans) 26.
  • Management

  • Periconceptional Folic Acid Supplementation: 400-800 mcg daily starting before conception and continuing through the first trimester to prevent NTDs 2619.
  • Surgical Repair: For myelomeningocele, surgical closure of the spinal defect is essential to prevent infection and improve neurological outcomes 616.
  • Multidisciplinary Care: Includes pediatric surgery, neurology, urology, and rehabilitation services to address associated complications 616.
  • Urological Management: Regular monitoring and interventions for urinary tract issues common in NTD patients 616.
  • Special Populations

  • Pregnancy: Adequate folic acid intake is crucial; supplementation guidelines should be strictly followed 21819.
  • Pediatrics: Comprehensive follow-up care focusing on motor function, cognitive development, and urological health 616.
  • Comorbidities: Management strategies should consider additional health issues such as hydrocephalus or tethered cord syndrome 616.
  • Key Recommendations

  • Initiate Folic Acid Supplementation: Women of childbearing age should take 400-800 mcg of folic acid daily before conception and through the first trimester to prevent NTDs (Evidence: Strong 219).
  • Prenatal Screening: Implement MSAFP screening and ultrasound monitoring to detect NTDs prenatally (Evidence: Moderate 2).
  • Early Surgical Intervention: For myelomeningocele, early surgical repair is recommended to improve outcomes (Evidence: Moderate 6).
  • Comprehensive Follow-Up Care: Provide multidisciplinary care addressing neurological, urological, and developmental needs in affected children (Evidence: Expert opinion 6).
  • References

    1 Vincent H, Walker S, Hodder A, Davies SM, Dasgupta T, Bale N et al.. Barriers and facilitators for implementation of OptiBreech collaborative care: A qualitative study as part of an implementation process evaluation. Women and birth : journal of the Australian College of Midwives 2024. link 2 Viswanathan M, Urrutia RP, Hudson KN, Middleton JC, Kahwati LC. Folic Acid Supplementation to Prevent Neural Tube Defects: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA 2023. link 3 Fothergill A, Crider KS, Rose CE, Bose B, Guetterman HM, Johnson CB et al.. Estimating the serum folate concentration that corresponds to the red blood cell folate concentration threshold associated with optimal neural tube defects prevention: A population-based biomarker survey in Southern India. The American journal of clinical nutrition 2023. link 4 Lawrence ER, Appiah-Kubi A, Konney TO, Bell SG, Tawiah A, Compton SD. Preferences and perspectives on vaginal breech delivery in Ghana. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2021. link 5 . External Cephalic Version: ACOG Practice Bulletin Summary, Number 221. Obstetrics and gynecology 2020. link 6 Clayton DB, Thomas JC, Brock JW. Fetal repair of myelomeningocele: current status and urologic implications. Journal of pediatric urology 2020. link 7 . External Cephalic Version: ACOG Practice Bulletin, Number 221. Obstetrics and gynecology 2020. link 8 Kehoe L, Walton J, Hopkins SM, McNulty BA, Nugent AP, Flynn A. Modelling the impact of mandatory folic acid fortification of bread or flour in Ireland on the risk of occurrence of NTD-affected pregnancies in women of childbearing age and on risk of masking vitamin B. European journal of nutrition 2020. link 9 Lachenauer ER, Stabler SP, Field MS, Stover PJ. p53 Disruption Increases Uracil Accumulation in DNA of Murine Embryonic Fibroblasts and Leads to Folic Acid-Nonresponsive Neural Tube Defects in Mice. The Journal of nutrition 2020. link 10 McNulty H, Ward M, Hoey L, Hughes CF, Pentieva K. Addressing optimal folate and related B-vitamin status through the lifecycle: health impacts and challenges. The Proceedings of the Nutrition Society 2019. link 11 Post WM, Vlemmix F, de Hundt M, van Rheenen LE. Does vaginal breech delivery have a future despite low volumes for training? Results of a questionnaire. European journal of obstetrics, gynecology, and reproductive biology 2018. link 12 Koirala S, Pokharel S. Assessing the Level of Knowledge in the Preconceptional Use of Folic Acid Supplement among Primigravida Women. Kathmandu University medical journal (KUMJ) 2018. link 13 Mills JL, Molloy AM, Reynolds EH. Do the benefits of folic acid fortification outweigh the risk of masking vitamin B. BMJ (Clinical research ed.) 2018. link 14 Maraschini A, D'Aloja P, Lega I, Buoncristiano M, Kirchmayer U, Ventura M et al.. Do Italian pregnant women use periconceptional folate supplementation?. Annali dell'Istituto superiore di sanita 2017. link 15 . Practice Bulletin No. 161: External Cephalic Version. Obstetrics and gynecology 2016. link 16 Preiksaitiene E, Benušienė E, Ciuladaite Z, Šliužas V, Mikštienė V, Kučinskas V. Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement. Taiwanese journal of obstetrics & gynecology 2016. link 17 Rodrigues HG, Gubert MB, Santos LM. Folic acid intake by pregnant women from Vale do Jequitinhonha, Brazil, and the contribution of fortified foods. Archivos latinoamericanos de nutricion 2015. link 18 Friberg AK, Jørgensen FS. Few Danish pregnant women follow guidelines on periconceptional use of folic acid. Danish medical journal 2015. link 19 Wilson RD, Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L et al.. Pre-conception Folic Acid and Multivitamin Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital Anomalies. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2015. link30230-9) 20 Seidahmed MZ, Abdelbasit OB, Shaheed MM, Alhussein KA, Miqdad AM, Samadi AS et al.. Genetic, chromosomal, and syndromic causes of neural tube defects. Saudi medical journal 2014. link 21 Horn F, Sabova L, Pinterova E, Hornova J, Trnka J. Prevention of neural tube defects by folic acid - awareness among women of childbearing age in Slovakia. Bratislavske lekarske listy 2014. link 22 Mikael LG, Deng L, Paul L, Selhub J, Rozen R. Moderately high intake of folic acid has a negative impact on mouse embryonic development. Birth defects research. Part A, Clinical and molecular teratology 2013. link 23 Mukaindo AM, Wanyonyi SZ, Stones WR. External cephalic version in East, Central, and Southern Africa. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2012. link 24 Vogel TW, Manjila S, Cohen AR. Novel neurodevelopmental disorder in the case of a giant occipitoparietal meningoencephalocele. Journal of neurosurgery. Pediatrics 2012. link 25 Safi J, Joyeux L, Chalouhi GE. Periconceptional folate deficiency and implications in neural tube defects. Journal of pregnancy 2012. link 26 De Steur H, Blancquaert D, Gellynck X, Lambert W, Van Der Straeten D. Ex-ante evaluation of biotechnology innovations: the case of folate biofortified rice in China. Current pharmaceutical biotechnology 2012. link 27 Suarez L, Felkner M, Brender JD, Canfield M, Zhu H, Hendricks KA. Neural tube defects on the Texas-Mexico border: what we've learned in the 20 years since the Brownsville cluster. Birth defects research. Part A, Clinical and molecular teratology 2012. link 28 De Grazia S, Carlomagno G, Unfer V, Cavalli P. Myo-inositol soft gel capsules may prevent the risk of coffee-induced neural tube defects. Expert opinion on drug delivery 2012. link 29 Devarajan K, Gareth Seaward P, Farine D. Attitudes among Toronto obstetricians towards vaginal breech delivery. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2011. link34875-7) 30 Beaudin AE, Abarinov EV, Noden DM, Perry CA, Chu S, Stabler SP et al.. Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice. The American journal of clinical nutrition 2011. link 31 Eghwrudjakpor PO, Amadi CE, Amusan EO. Evaluation of the level of awareness of the role of folic acid in the prevention of neural tube defects amongst women of reproductive age in a tertiary health institution. Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria 2011. link 32 Tos T, Aktas S, Ikbal M, Avci M, Senel S, Ceylaner S. A case of lower mesodermal defects sequence. Genetic counseling (Geneva, Switzerland) 2010. link 33 Vlemmix F, Rosman AN, Fleuren MA, Rijnders ME, Beuckens A, Haak MC et al.. Implementation of the external cephalic version in breech delivery. Dutch national implementation study of external cephalic version. BMC pregnancy and childbirth 2010. link 34 Aggarwal A, Kumhar GD, Harit D, Faridi MM. Role of folic acid supplementation in prevention of neural tube defects: physicians yet unaware!. Journal of preventive medicine and hygiene 2010. link 35 Begley A, Coveney J. Wonder vitamin or mass medication? Media and academic representation of folate fortification as a policy problem in Australia and New Zealand. Australian and New Zealand journal of public health 2010. link 36 Thompson MD, Cole DE, Ray JG. Vitamin B-12 and neural tube defects: the Canadian experience. The American journal of clinical nutrition 2009. link 37 Wolff T, Witkop CT, Miller T, Syed SB. Folic acid supplementation for the prevention of neural tube defects: an update of the evidence for the U.S. Preventive Services Task Force. Annals of internal medicine 2009. link 38 Chen CP. Syndromes, disorders and maternal risk factors associated with neural tube defects (VI). Taiwanese journal of obstetrics & gynecology 2008. link60123-0) 39 Chen CP. Syndromes, disorders and maternal risk factors associated with neural tube defects (III). Taiwanese journal of obstetrics & gynecology 2008. link60070-4) 40 Chen CP. Syndromes, disorders and maternal risk factors associated with neural tube defects (VII). Taiwanese journal of obstetrics & gynecology 2008. link60124-2) 41 Chen CP. Syndromes, disorders and maternal risk factors associated with neural tube defects (V). Taiwanese journal of obstetrics & gynecology 2008. link60122-9) 42 McNulty H, Scott JM. Intake and status of folate and related B-vitamins: considerations and challenges in achieving optimal status. The British journal of nutrition 2008. link 43 Kondo A, Kamihira O, Gotoh M, Ozawa H, Lee TY, Lin AT et al.. Folic acid prevents neural tube defects: international comparison of awareness among obstetricians/gynecologists and urologists. The journal of obstetrics and gynaecology research 2007. link 44 Founds SA. Women's and providers' experiences of breech presentation in Jamaica: a qualitative study. International journal of nursing studies 2007. link 45 Ren A, Zhang L, Hao L, Li Z, Tian Y, Li Z. Comparison of blood folate levels among pregnant Chinese women in areas with high and low prevalence of neural tube defects. Public health nutrition 2007. link 46 Antony AC. In utero physiology: role of folic acid in nutrient delivery and fetal development. The American journal of clinical nutrition 2007. link 47 Ray JG, Wyatt PR, Thompson MD, Vermeulen MJ, Meier C, Wong PY et al.. Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population. Epidemiology (Cambridge, Mass.) 2007. link 48 Williams JL, Abelman SM, Fassett EM, Stone CE, Petrini JR, Damus K et al.. Health care provider knowledge and practices regarding folic acid, United States, 2002-2003. Maternal and child health journal 2006. link 49 House JD, March SB, Ratnam MS, Crowley M, Friel JK. Improvements in the status of folate and cobalamin in pregnant Newfoundland women are consistent with observed reductions in the incidence of neural tube defects. Canadian journal of public health = Revue canadienne de sante publique 2006. link 50 O'Rourke KM, Roddy ME, Williams D, Mena K. Predictors of early postpartum vitamin use among women of Mexican origin: implications for healthcare provider recommendations. Ethnicity & disease 2006. link 51 Finglas PM, de Meer K, Molloy A, Verhoef P, Pietrzik K, Powers HJ et al.. Research goals for folate and related B vitamin in Europe. European journal of clinical nutrition 2006. link 52 Alexandersson O, Bixo M, Högberg U. Evidence-based changes in term breech delivery practice in Sweden. Acta obstetricia et gynecologica Scandinavica 2005. link 53 Kondo A, Kamihira O, Shimosuka Y, Okai I, Gotoh M, Ozawa H. Awareness of the role of folic acid, dietary folate intake and plasma folate concentration in Japan. The journal of obstetrics and gynaecology research 2005. link 54 Stevenson RE, Seaver LH, Collins JS, Dean JH. Neural tube defects and associated anomalies in South Carolina. Birth defects research. Part A, Clinical and molecular teratology 2004. link 55 Hogle KL, Kilburn L, Hewson S, Gafni A, Wall R, Hannah ME. Impact of the international term breech trial on clinical practice and concerns: a survey of centre collaborators. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2003. link31077-5) 56 Khalil SN, Vije HN, Kee SS, Farag A, Hanna E, Chuang AZ. A paediatric trial comparing midazolam/Syrpalta mixture with premixed midazolam syrup (Roche). Paediatric anaesthesia 2003. link 57 Cunha AL, Hirata MH, Kim CA, Guerra-Shinohara EM, Nonoyama K, Hirata RD. Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects. Clinica chimica acta; international journal of clinical chemistry 2002. link00764-1) 58 Karantanis E, Alcock D, Phelan LK, Homer CS, Davis GK. Introducing external cephalic version to clinical practice. The Australian & New Zealand journal of obstetrics & gynaecology 2001. link 59 Burr R, Helyer P, Robson SC. A training model for external cephalic version. European journal of obstetrics, gynecology, and reproductive biology 2001. link00388-8) 60 de Silva D, Suriyawansa D, Mangalika M, Samarasinghe D. Meckel Gruber syndrome--a single gene cause of recurrent neural tube defects. The Ceylon medical journal 2001. link 61 Green PM, Alfirevic Z. External cephalic version. Hospital medicine (London, England : 1998) 1999. link 62 Ali AA, Ali MM, Dai D, Sohal GS. Ventrally emigrating neural tube cells differentiate into vascular smooth muscle cells. General pharmacology 1999. link00034-8) 63 Jacques PF, Selhub J, Bostom AG, Wilson PW, Rosenberg IH. The effect of folic acid fortification on plasma folate and total homocysteine concentrations. The New England journal of medicine 1999. link 64 Yahya SZ, Williams J, Mathers A, Bjornsson S, Cameron AD, Pell JP. Variations in the management of singleton breech presentation throughout Scotland. Scottish medical journal 1998. link 65 Kälién B, Robert E, Harris J. Associated malformations in infants and fetuses with upper or lower neural tube defects. Teratology 1998. link1096-9926(199802)57:2<56::AID-TERA3>3.0.CO;2-4) 66 Locksmith GJ, Duff P. Preventing neural tube defects: the importance of periconceptional folic acid supplements. Obstetrics and gynecology 1998. link00060-x) 67 Coltart T, Edmonds DK, al-Mufti R. External cephalic version at term: a survey of consultant obstetric practice in the United Kingdom and Republic of Ireland. British journal of obstetrics and gynaecology 1997. link 68 Al-Gazali LI, Al-Shather WA. Anterior encephalocele and anophthalmia. Clinical dysmorphology 1996. link 69 Schwarz RH, Johnston RB. Folic acid supplementation--when and how. Obstetrics and gynecology 1996. link00270-0) 70 Telmesani A. A rare association of myelomeningocele with cloacal duplication malformation. Annals of tropical paediatrics 1994. link 71 Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ et al.. Atelencephalic aprosencephaly. Journal of child neurology 1994. link 72 Nicolini U. Prenatal diagnosis and fetal therapy. Current opinion in obstetrics & gynecology 1993. link 73 Mooij PN, Steegers-Theunissen RP, Thomas CM, Doesburg WH, Eskes TK. Periconceptional vitamin profiles are not suitable for identifying women at risk for neural tube defects. The Journal of nutrition 1993. link 74 Mills JL, Simpson JL. Prospects for prevention of neural tube defects by vitamin supplementation. Current opinion in neurology and neurosurgery 1993. link 75 Mooij PN, Thomas CM, Doesburg WH, Eskes TK. The effects of periconceptional folic acid and vitamin supplementation on maternal folate levels and on neurulating hamster embryos in vivo. International journal for vitamin and nutrition research. 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    Original source

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