Neural Tube Defects: Etiology, Epidemiology, Risk Factors, and  Advances in Prevention and Treatment

R. Manimekalai; A. Rahana; Shruti Srinivasan; R. Manimekalai; A. Rahana; Shruti Srinivasan

doi:10.61096/ijamscr.v12.iss3.2024.320-324

Issue

Vol. 12 No. 3 (2024): 2024 Volume -12 - Issue 3

Date Log

Published

July 26, 2024

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Neural Tube Defects: Etiology, Epidemiology, Risk Factors, and Advances in Prevention and Treatment

https://doi.org/10.61096/ijamscr.v12.iss3.2024.320-324

R. Manimekalai

Professor, Sree Abirami College of Nursing, L&T Bypass Road, Eachanari (P.O), Coimbatore, Tamil nadu – 641 021, India

A. Rahana

Assistant Professor, Sree Abirami College of Allied Health Sciences, Sree Abirami Hospital (P) Ltd., 33, Madukkarai Road, Sundarapuram, Coimbatore, Tamil Nadu - 641024, India

Shruti Srinivasan

Assistant Professor, Sree Abirami College of Allied Health Sciences, Sree Abirami Hospital (P) Ltd., 33, Madukkarai Road, Sundarapuram, Coimbatore, Tamil Nadu - 641024, India

Corresponding Author(s) : R. Manimekalai

balamanihari@gmail.com

International Journal of Allied Medical Sciences and Clinical Research, Vol. 12 No. 3 (2024): 2024 Volume -12 - Issue 3
Article Published : July 26, 2024

Abstract

Neural tube defects (NTDs) are severe congenital malformations resulting from incomplete closure of the neural tube during embryogenesis. These defects, including spina bifida, anencephaly, and encephalocele, contribute significantly to infant mortality and long-term disability. Despite advancements in prenatal screening and folic acid supplementation, NTDs remain a critical public health issue. This review provides a comprehensive analysis of the etiology, epidemiology, risk factors, genetic and environmental influences, diagnostic approaches, preventive strategies, and current therapeutic interventions for NTDs. Emphasis is placed on the role of folic acid in prevention, the impact of genetic predispositions, and the latest research on molecular pathways involved in neural tube closure. Current trends in prenatal diagnosis and the potential for future therapeutic approaches, including gene editing and regenerative medicine, are also discussed. Understanding the complex interplay of factors leading to NTDs is crucial for developing effective prevention and treatment strategies.

Keywords

Neural tube defects spina bifida anencephaly folic acid congenital malformations

R. Manimekalai, A. Rahana, Shruti Srinivasan. Neural Tube Defects: Etiology, Epidemiology, Risk Factors, and Advances in Prevention and Treatment. Int. J. of Allied Med. Sci. and Clin. Res. [Internet]. 2024 Jul. 26 [cited 2025 Oct. 25];12(3):320-4. Available from: https://ijamscr.com/ijamscr/article/view/1501

Download Citation

References

Greene, N.D., Copp, A.J. Neural tube defects. Annual Review of Neuroscience. 2014; 37, 221-242.
Mitchell, L.E. Epidemiology of neural tube defects. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2005; 135C(1), 88-94.
Blom, H.J., Shaw, G.M., den Heijer, M., Finnell, R.H. Neural tube defects and folate: case far from closed. Nature Reviews Neuroscience, 2006; 7(9), 724-731.
Boulet, S.L., Yang, Q., Mai, C., Kirby, R.S., Collins, J.S., Robbins, J.M., Meyer, R., Canfield, M.A., Mulinare, J. Trends in the postfortification prevalence of spina bifida and anencephaly in the United States. Birth Defects Research Part A: Clinical and Molecular Teratology, 2008; 82(7), 527-532.
Yi, Y., Lindemann, M., Colligs, A., Snowball, C. Economic burden of neural tube defects and impact of prevention with folic acid: a literature review. European Journal of Pediatrics, 2011; 170(11), 1391-1400.
Khoshnood, B., Loane, M., de Walle, H., Arriola, L., Addor, M.C., et al., Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ, 2015; 351, h5949.
Deak, K.L., Dickerson, M.E., Linney, E., Enterline, D.S., George, T.M., Melvin, E.C., Graham, et al,. Analysis of MTHFR 677C>T and 1298A>C polymorphisms as risk factors for neural tube defects. Journal of Human Genetics, 2005; 50(3), 151-157.
Cabrera, R.M., Hill, D.S., Etheredge, A.J., Finnell, R.H.Investigations into the etiology of neural tube defects. Birth Defects Research Part C: Embryo Today: Reviews, 2004; 72(4), 330-344.
Oakley, G.P. Jr. Folic acid-preventable spina bifida and anencephaly. JAMA, 2002; 288(8), 972-973.
Shaw, G.M., Lammer, E.J. Maternal periconceptional alcohol consumption and risk for orofacial clefts. Journal of Pediatrics, 1999; 134(3), 298-303.
Harris, M.J., Juriloff, D.M. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Research Part A: Clinical and Molecular Teratology, 2007; 79(3), 187-210.
Wald, N.J., Hackshaw, A.K., Stone, R.B. Serum alpha-fetoprotein levels in multifetal pregnancies: implications for screening for open neural tube defects in singleton pregnancies. Prenatal Diagnosis, 1996; 16(11), 1033-1037.
Timor-Tritsch, I.E., Monteagudo, A. Diagnosis of congenital anomalies by ultrasound. Obstetrics and Gynecology Clinics of North America, 1996; 23(4), 649-667.
Milunsky, A., Milunsky, H. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. John Wiley & Sons. 2015.
De-Regil, L.M., Fernandez-Gaxiola, A.C., Dowswell, T., Peña-Rosas, J.P.Effects and safety of periconceptional folate supplementation for preventing birth defects. Cochrane Database of Systematic Reviews, 2010; 10, CD007950.
Czeizel, A.E., Dudas, I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. New England Journal of Medicine, 1992; 327(26), 1832-1835.
Greene, N.D., Stanier, P., Copp, A.J. Genetics of human neural tube defects. Human Molecular Genetics, 2009; 18(R2), R113-R129.
Adzick, N.S., Thom, E.A., Spong, C.Y., Brock, J.W. 3rd, Burrows, P.K., Johnson, M.P. et al,. MOMS Investigators. A randomized trial of prenatal versus postnatal repair of myelomeningocele. New England Journal of Medicine, 2011; 364(11), 993-1004.
Copp, A.J., Adzick, N.S., Chitty, L.S., Fletcher, J.M., Holmbeck, G.N., Shaw, G.M. Spina bifida. Nature Reviews Disease Primers, 2015; 1, 15007.

References

Greene, N.D., Copp, A.J. Neural tube defects. Annual Review of Neuroscience. 2014; 37, 221-242.

Mitchell, L.E. Epidemiology of neural tube defects. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2005; 135C(1), 88-94.

Blom, H.J., Shaw, G.M., den Heijer, M., Finnell, R.H. Neural tube defects and folate: case far from closed. Nature Reviews Neuroscience, 2006; 7(9), 724-731.

Boulet, S.L., Yang, Q., Mai, C., Kirby, R.S., Collins, J.S., Robbins, J.M., Meyer, R., Canfield, M.A., Mulinare, J. Trends in the postfortification prevalence of spina bifida and anencephaly in the United States. Birth Defects Research Part A: Clinical and Molecular Teratology, 2008; 82(7), 527-532.

Yi, Y., Lindemann, M., Colligs, A., Snowball, C. Economic burden of neural tube defects and impact of prevention with folic acid: a literature review. European Journal of Pediatrics, 2011; 170(11), 1391-1400.

Khoshnood, B., Loane, M., de Walle, H., Arriola, L., Addor, M.C., et al., Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ, 2015; 351, h5949.

Deak, K.L., Dickerson, M.E., Linney, E., Enterline, D.S., George, T.M., Melvin, E.C., Graham, et al,. Analysis of MTHFR 677C>T and 1298A>C polymorphisms as risk factors for neural tube defects. Journal of Human Genetics, 2005; 50(3), 151-157.

Cabrera, R.M., Hill, D.S., Etheredge, A.J., Finnell, R.H.Investigations into the etiology of neural tube defects. Birth Defects Research Part C: Embryo Today: Reviews, 2004; 72(4), 330-344.

Oakley, G.P. Jr. Folic acid-preventable spina bifida and anencephaly. JAMA, 2002; 288(8), 972-973.

Shaw, G.M., Lammer, E.J. Maternal periconceptional alcohol consumption and risk for orofacial clefts. Journal of Pediatrics, 1999; 134(3), 298-303.

Harris, M.J., Juriloff, D.M. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Research Part A: Clinical and Molecular Teratology, 2007; 79(3), 187-210.

Wald, N.J., Hackshaw, A.K., Stone, R.B. Serum alpha-fetoprotein levels in multifetal pregnancies: implications for screening for open neural tube defects in singleton pregnancies. Prenatal Diagnosis, 1996; 16(11), 1033-1037.

Timor-Tritsch, I.E., Monteagudo, A. Diagnosis of congenital anomalies by ultrasound. Obstetrics and Gynecology Clinics of North America, 1996; 23(4), 649-667.

Milunsky, A., Milunsky, H. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. John Wiley & Sons. 2015.

De-Regil, L.M., Fernandez-Gaxiola, A.C., Dowswell, T., Peña-Rosas, J.P.Effects and safety of periconceptional folate supplementation for preventing birth defects. Cochrane Database of Systematic Reviews, 2010; 10, CD007950.

Czeizel, A.E., Dudas, I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. New England Journal of Medicine, 1992; 327(26), 1832-1835.

Greene, N.D., Stanier, P., Copp, A.J. Genetics of human neural tube defects. Human Molecular Genetics, 2009; 18(R2), R113-R129.

Adzick, N.S., Thom, E.A., Spong, C.Y., Brock, J.W. 3rd, Burrows, P.K., Johnson, M.P. et al,. MOMS Investigators. A randomized trial of prenatal versus postnatal repair of myelomeningocele. New England Journal of Medicine, 2011; 364(11), 993-1004.

Copp, A.J., Adzick, N.S., Chitty, L.S., Fletcher, J.M., Holmbeck, G.N., Shaw, G.M. Spina bifida. Nature Reviews Disease Primers, 2015; 1, 15007.