Book contents
- Fetal Therapy
- Fetal Therapy
- Copyright page
- Dedication
- Contents
- Contributors
- Foreword
- Section 1: General Principles
- Section 2: Fetal Disease: Pathogenesis and Treatment
- Red Cell Alloimmunization
- Structural Heart Disease in the Fetus
- Fetal Dysrhythmias
- Manipulation of Fetal Amniotic Fluid Volume
- Fetal Infections
- Fetal Growth and Well-being
- Preterm Birth of the Singleton and Multiple Pregnancy
- Complications of Monochorionic Multiple Pregnancy: Twin-to-Twin Transfusion Syndrome
- Complications of Monochorionic Multiple Pregnancy: Fetal Growth Restriction in Monochorionic Twins
- Complications of Monochorionic Multiple Pregnancy: Twin Reversed Arterial Perfusion Sequence
- Complications of Monochorionic Multiple Pregnancy: Multifetal Reduction in Multiple Pregnancy
- Fetal Urinary Tract Obstruction
- Pleural Effusion and Pulmonary Pathology
- Surgical Correction of Neural Tube Anomalies
- Chapter 43 Neural Tube Anomalies: An Update on the Pathophysiology and Prevention
- Chapter 44 Neural Tube Anomalies: Clinical Management by Open Fetal Surgery
- Chapter 45 Open Neural Tube Defect Repair: Development and Refinement of a Fetoscopic Technique
- Fetal Tumors
- Congenital Diaphragmatic Hernia
- Fetal Stem Cell Transplantation
- Gene Therapy
- Section III: The Future
- Index
- References
Chapter 43 - Neural Tube Anomalies: An Update on the Pathophysiology and Prevention
from Surgical Correction of Neural Tube Anomalies
Published online by Cambridge University Press: 21 October 2019
Book contents
- Fetal Therapy
- Fetal Therapy
- Copyright page
- Dedication
- Contents
- Contributors
- Foreword
- Section 1: General Principles
- Section 2: Fetal Disease: Pathogenesis and Treatment
- Red Cell Alloimmunization
- Structural Heart Disease in the Fetus
- Fetal Dysrhythmias
- Manipulation of Fetal Amniotic Fluid Volume
- Fetal Infections
- Fetal Growth and Well-being
- Preterm Birth of the Singleton and Multiple Pregnancy
- Complications of Monochorionic Multiple Pregnancy: Twin-to-Twin Transfusion Syndrome
- Complications of Monochorionic Multiple Pregnancy: Fetal Growth Restriction in Monochorionic Twins
- Complications of Monochorionic Multiple Pregnancy: Twin Reversed Arterial Perfusion Sequence
- Complications of Monochorionic Multiple Pregnancy: Multifetal Reduction in Multiple Pregnancy
- Fetal Urinary Tract Obstruction
- Pleural Effusion and Pulmonary Pathology
- Surgical Correction of Neural Tube Anomalies
- Chapter 43 Neural Tube Anomalies: An Update on the Pathophysiology and Prevention
- Chapter 44 Neural Tube Anomalies: Clinical Management by Open Fetal Surgery
- Chapter 45 Open Neural Tube Defect Repair: Development and Refinement of a Fetoscopic Technique
- Fetal Tumors
- Congenital Diaphragmatic Hernia
- Fetal Stem Cell Transplantation
- Gene Therapy
- Section III: The Future
- Index
- References
Summary
Anomalies of the neural tube are a group of severe birth defects involving the central nervous system, with a global prevalence rate of approximately 1 in 1000 births [1]. The birth prevalence varies substantially between geographical locations, socioeconomic status and ethnic groups because of genetic and environmental differences, including maternal conditions, medication, toxins, nutrition, and lifestyle. Worldwide, each year approximately 130 000 newborns are born with a neural tube defect (NTD). The clinical spectrum of neural tube defects includes spina bifida, anencephaly, encephalocele, and although rare, craniorachischisis and iniencephaly. Spina bifida accounts for 57% of all NTDs, anencephaly 33%, and encephalocele 10%.
- Type
- Chapter
- Information
- Fetal TherapyScientific Basis and Critical Appraisal of Clinical Benefits, pp. 449 - 455Publisher: Cambridge University PressPrint publication year: 2020
References
Botto, LD, Moore, CA, Khoury, MJ, et al. Neural-tube defects. N Engl J Med. 1999; 341: 1509–19.Google Scholar
Padmanabhan, R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom (Kyoto). 2006; 46: 55–67.Google Scholar
Deak, KL, Siegel, DG, George, TM, et al. Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res A Clin Mol Teratol 2008; 82: 662–9.CrossRefGoogle Scholar
Wilde, JJ, Petersen, JR, Niswander, L. Genetic, epigenetic, and environmental contributions to neural tube closure. Annu Rev Genet. 2014; 48: 583–611.CrossRefGoogle ScholarPubMed
Au, KS, Ashley-Koch, A, Northrup, H. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev. 2010; 16: 6–15.Google Scholar
Copp, AJ, Adzick, NS, Chitty, LS, et al. Spina bifida. Nat Rev Dis Primers. 2015; 1: 15007.Google Scholar
Viswanathan, M, Treiman, KA, Doto, JK, et al. Folic Acid Supplementation: An Evidence Review for the U.S. Preventive Services Task Force: U.S. Preventive Services Task Force Evidence Syntheses. Rockville: Agency for Healthcare Research and Quality, 2017.Google Scholar
van der Put, NM, Steegers-Theunissen, RP, Frosst, P, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet. 1995; 346: 1070–1.Google Scholar
Besser, LM, Williams, LJ, Cragan, JD. Interpreting changes in the epidemiology of anencephaly and spina bifida following folic acid fortification of the U.S. grain supply in the setting of long-term trends, Atlanta, Georgia, 1968–2003. Birth Defects Res A Clin Mol Teratol. 2007; 79: 730–6.Google Scholar
Becerra, JE, Khoury, MJ, Cordero, JF, et al. Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study. Pediatrics. 1990; 85: 1–9.CrossRefGoogle ScholarPubMed
Mitchell, LE, Adzick, NS, Melchionne, J, et al. Spina bifida. Lancet. 2004; 364: 1885–95.CrossRefGoogle ScholarPubMed
Groenen, PM, Peer, PG, Wevers, RA, et al. Maternal myo-inositol, glucose, and zinc status is associated with the risk of offspring with spina bifida. Am J Obstet Gynecol. 2003; 189: 1713–19.CrossRefGoogle ScholarPubMed
Carmichael, SL, Rasmussen, SA, Shaw, GM. Prepregnancy obesity: a complex risk factor for selected birth defects. Birth Defects Res A Clin Mol Teratol. 2010; 88: 804–10.Google Scholar
Parker, SE, Yazdy, MM, Tinker, SC, et al. The impact of folic acid intake on the association among diabetes mellitus, obesity, and spina bifida. Am J Obstet Gynecol. 2013; 209: 239. e1–8.Google Scholar
Desrosiers, TA, Siega-Riz, AM, Mosley, BS, et al. Low carbohydrate diets may increase risk of neural tube defects. Birth Defects Res. 2018; 110: 901–9.CrossRefGoogle ScholarPubMed
Vujkovic, M, Steegers, EA, Looman, CW, et al. The maternal Mediterranean dietary pattern is associated with a reduced risk of spina bifida in the offspring. BJOG. 2009; 116: 408–15.Google Scholar
Suarez, L, Cardarelli, K, Hendricks, K. Maternal stress, social support, and risk of neural tube defects among Mexican Americans. Epidemiology. 2003; 14: 612–16.Google Scholar
Moretti, ME, Bar-Oz, B, Fried, S, et al. Maternal hyperthermia and the risk for neural tube defects in offspring: systematic review and meta-analysis. Epidemiology. 2005; 16: 216–19.Google Scholar
Molloy, AM, Pangilinan, F, Brody, LC. Genetic risk factors for folate-responsive neural tube defects. Annu Rev Nutr. 2017; 37: 269–91.Google Scholar
Smithells, RW, Sheppard, S, Schorah, CJ, et al. Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child. 1981; 56: 911–18.Google Scholar
MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet. 1991; 338: 131–7.Google Scholar
Czeizel, AE, Dudas, I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med. 1992; 327: 1832–5.Google Scholar
Giardini, V, Russo, FM, Ornaghi, S, et al. Seasonal impact in the frequency of isolated spina bifida. Prenat Diagn. 2013; 33: 1007–9.Google Scholar
Ray, JG, Wyatt, PR, Thompson, MD, et al. Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population. Epidemiology. 2007; 18: 362–6.CrossRefGoogle Scholar
Steegers-Theunissen, RP, Boers, GH, Trijbels, FJ, et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism. 1994; 43: 1475–80.Google Scholar
Steegers-Theunissen, RP, Boers, GH, Trijbels, FJ, et al. Neural-tube defects and derangement of homocysteine metabolism. N Engl J Med. 1991; 324: 199–200.Google Scholar
Yang, M, Li, W, Wan, Z, et al. Elevated homocysteine levels in mothers with neural tube defects: a systematic review and meta-analysis. J Matern Fetal Neonatal Med. 2017; 30: 2051–7.Google Scholar
Shaw, GM, Finnell, RH, Blom, HJ, et al. Choline and risk of neural tube defects in a folate-fortified population. Epidemiology. 2009; 20: 714–19.Google Scholar
Greene, ND, Leung, KY, Copp, AJ. Inositol, neural tube closure and the prevention of neural tube defects. Birth Defects Res. 2017; 109: 68–80.CrossRefGoogle ScholarPubMed
Grewal, J, Carmichael, SL, Ma, C, et al. Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomalies. Birth Defects Res A Clin Mol Teratol. 2008; 82: 519–26.CrossRefGoogle ScholarPubMed
Schmidt, RJ, Romitti, PA, Burns, TL, et al. Maternal caffeine consumption and risk of neural tube defects. Birth Defects Res A Clin Mol Teratol. 2009; 85: 879–89.CrossRefGoogle ScholarPubMed
Vajda, FJ, Eadie, MJ. Maternal valproate dosage and foetal malformations. Acta Neurol Scand. 2005; 112: 137–43.Google Scholar
Padula, AM, Tager, IB, Carmichael, SL, et al. The association of ambient air pollution and traffic exposures with selected congenital anomalies in the San Joaquin Valley of California. Am J Epidemiol. 2013; 177: 1074–85.CrossRefGoogle Scholar
Lupo, PJ, Symanski, E, Waller, DK, et al. Maternal exposure to ambient levels of benzene and neural tube defects among offspring: Texas, 1999-2004. Environ Health Perspect. 2011; 119: 397–402.Google Scholar
Li, Z, Zhang, L, Ye, R, et al. Indoor air pollution from coal combustion and the risk of neural tube defects in a rural population in Shanxi Province, China. Am J Epidemiol. 2011; 174: 451–8.Google Scholar
Righi, E, Bechtold, P, Tortorici, D, et al. Trihalomethanes, chlorite, chlorate in drinking water and risk of congenital anomalies: a population-based case-control study in Northern Italy. Environ Res. 2012; 116: 66–73.CrossRefGoogle ScholarPubMed
Brender, JD, Felkner, M, Suarez, L, et al. Maternal pesticide exposure and neural tube defects in Mexican Americans. Ann Epidemiol. 2010; 20: 16–22.CrossRefGoogle ScholarPubMed
Honein, MA, Paulozzi, LJ, Mathews, TJ, et al. Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. JAMA. 2001; 285: 2981–6.CrossRefGoogle ScholarPubMed
Williams, J, Mai, CT, Mulinare, J, et al. Updated estimates of neural tube defects prevented by mandatory folic acid fortification – United States, 1995–2011. MMWR Morb Mortal Wkly Rep. 2015; 64: 1–5.Google Scholar
De Wals, P, Tairou, F, Van Allen, MI, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 2007; 357: 135–42.Google Scholar
Bentley, TG, Weinstein, MC, Willett, WC, et al. A cost-effectiveness analysis of folic acid fortification policy in the United States. Public Health Nutr. 2009; 12: 455–67.Google Scholar
Atta, CA, Fiest, KM, Frolkis, AD, et al. Global birth prevalence of spina bifida by folic acid fortification status: a systematic review and meta-analysis. Am J Public Health. 2016; 106: e24–34.CrossRefGoogle ScholarPubMed
Mills, JL, Von Kohorn, I, Conley, MR, et al. Low vitamin B-12 concentrations in patients without anemia: the effect of folic acid fortification of grain. Am J Clin Nutr. 2003; 77: 1474–7.Google Scholar
Vollset, SE, Clarke, R, Lewington, S, et al. Effects of folic acid supplementation on overall and site-specific cancer incidence during the randomised trials: meta-analyses of data on 50,000 individuals. Lancet. 2013; 381: 1029–36.Google Scholar
Tinker, SC, Hamner, HC, Qi, YP, et al. U.S. women of childbearing age who are at possible increased risk of a neural tube defect-affected pregnancy due to suboptimal red blood cell folate concentrations, National Health and Nutrition Examination Survey 2007 to 2012. Birth Defects Res A Clin Mol Teratol. 2015; 103: 517–26.CrossRefGoogle ScholarPubMed
Centers for Disease Control and Prevention. Racial/ethnic differences in the birth prevalence of spina bifida – United States, 1995–2005. MMWR Morb Mortal Wkly Rep. 2009; 57: 1409–13.Google Scholar
Greene, ND, Leung, KY, Gay, V, et al. Inositol for prevention of neural tube defects: a pilot randomised controlled trial – CORRIGENDUM. Br J Nutr. 2016; 115: 1697.Google Scholar
Khoshnood, B, Loane, M, de Walle, H, et al. Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ. 2015; 351: h5949.Google Scholar
Busby, A, Abramsky, L, Dolk, H, et al. Preventing neural tube defects in Europe: population based study. BMJ. 2005; 330: 574–5.Google Scholar