DOI: 10.36347/sjams.2020.v08i09.031

Pages: 2137-2142

Neural tube defect (NTD) is a defect in neurulation process of embryogenesis occuring during early human development. Failure of normal closure of neural tube causes NDT. Type and severity varies based on location of defect. NDT occurs predominantly at rostral and caudal ends. Folate is essential for DNA and RNA synthesis and for one carbon group transfer in methylation and nucleic acid synthesis. In folate deficiency, there is failure of post-translational methylation of the cytoskeleton leading to NTD. Some of the contributing factors for NTD include maternal illness, Low socio-economic status, Drugs, Food contamination and maternal Smoking. Folic acid supplementation reduces the prevalence of NTD by 70%. Multiple genes are associated with folate insensitive NTD. NTD can be classified based on the site of defect into Cranial and Spinal malformations and based on the presence or absence of exposed neural tissue into open or closed types. Some of the common factors to be considered in analysing NTD include Multiple Gestation, Dietary Factors, Sex, and Maternal obesity, Illness, Age, Socioeconomic Status, Parity, Occupational Exposure and Previous Pregnancy Wastage. Most popular strategy for prevention of NTD is folic acid supplementation for women of childbearing age. Other strategies for prevention of NTD include folate-rich diet, multivitamin supplementation, 6S- 5-MTHF, food fortification, combination of oral contraceptives and folate. With recent advances in genetics and diagnostic tools, genetic and syndromic causes of NTD can be prevented utilizing preimplantation genetic diagnosis or early detection by chorionic villous sampling and high resolution early antenatal ultrasound scan.