Published: 2020-09-21

Spectrum of prenatally diagnosed neural tube defects at a tertiary referral hospital in North India: a retrospective cohort study

Nisha Malik, Savita Rani Singhal, Smiti Nanda, Daya Sirohiwal, Pushpa Dahiya, Anita Bharti


Background: Neural tube defects, although largely preventable, constitute an important cause of neonatal mortality and morbidity. The study aimed to identify incidence rate, demographic profile, risk factors, and pregnancy outcomes of women with prenatally diagnosed NTDs.

Methods: This retrospective cohort study reviewed the case records of all antenatal women admitted in labour ward of Pt. B.D Sharma postgraduate institute of medical sciences, Rohtak, India with the prenatal diagnosis of NTDs on ultrasound from August 2018 to January 2020. The sociodemographic details, risk factors, obstetric history and pregnancy outcomes were noted. The mean, standard deviation and range values were calculated for normally distributed data. Categorical data were presented as frequency and percentage values.

Results: From a total of 21,187 births, 90 had neural tube defects, making an incidence rate of 4.3 per 1000 births. Out of the 86 included cases of NTDs, 46.5% (n=40) had anencephaly, 45.3% (n=39) spina bifida, 5.8% (n=5) encephalocele and 2.3% (n=2) had mixed defects. Majority (69.7%, n=60) of the women were multigravida with a mean age of 24.9±4.2 years. Preconceptional folic acid intake was found in merely 2.3% (n=2) cases and during first trimester of pregnancy in 39.5% (n=40) cases. About 61.6% (n=53) cases who presented at ≤20 weeks gestation underwent pregnancy termination while 38.3% (n=33) had vaginal delivery, of which majority (90.7%) were still births.

Conclusions: NTDs are one of the commonest preventable congenital anomalies. Ensuring periconceptional folate supplementation to women-either by food fortification, dietary modification and public awareness is urgently required.


Folic acid, Neural tube defects, Pregnancy

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Christianson A, Howson CP, Modell B. The hidden toll of dying and disabled children, March of Dimes, Global report on birth defects 2006. Available at: global-report-on-birth-defects-the-hidden-toll-of-dying-and-disabled-children-full-report.pdf. Accessed on 20 April 2020.

Lawal TA, Adeleye AO. Determinants of folic acid intake during preconception and in early pregnancy by mothers in Ibadan, Nigeria. Pan Afri Med J. 2014; 19:113.

Viswanathan M, Treiman KA, Doto JK, Middleton JC, Coker-Schwimmer EJL, Nicholson WK. Folic Acid Supplementation: An evidence review for the U.S. preventive services task force. Rockville (MD): Agency for Healthcare Research and Quality (US); 2017.

Nelson AL. Folates for reduction of risk of neural tube defects: using oral contraceptives as a source of Folate. J Contracept. 2011;2:137-50.

De Wals P, Tairou F, Van AMI, Uh SH, Lowry RB, Sibbald B, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 2007;357:135-42.

Bibbins-Domingo K, Grossman DC, Curry SJ, Davidson KW, Epling JW, Garcia FA, et al. Folic Acid Supplementation for the prevention of neural tube defects: US preventive services task force recommendation statement. JAMA. 2017;317(2): 183-9.

Tinker SC, Cogswell ME, Devine O, Berry RJ. Folic acid intake among U.S. women aged 15-44years, National Health and Nutrition Examination Survey, 2003-2006. Am J Prev Med. 2010;38(5):534-42.

Nasri K, Ben FMK, Hamdi T, Aloui M, Jeema MB, Nahdi S, et al. Epidemiology of neural tube defect subtypes in Tunisia, 1991-2011. Pathol Res Pract. 2014;210(12):944-52.

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(1):6-15.

Bhide P, Sagoo GS, Moorthie S, Burton H, Kar A.

Systematic review of birth prevalence of neural tube defects in India. Birth Defects Res A Clin Mol Teratol. 2013;97(7):437-43.

Sharma JB, Gulati N. Potential relationship between dengue fever and neural tube defects in a northern district of India. Int J Gynaecol Obstet. 1992;39:291-5.

Zlotogora J. Hereditary disorders among Iranian Jews. Am J Med Genet. 1995;58:32-7.

Owen TJ, Halliday JL, Stone CA. Neural tube defects in Victoria, Australia: potential contributing factors and public health implications. Aust N Z J Public Health. 2000;24(6):584-9.

Wasserman CR, Shaw GM, Selvin S, Gould JB, Syme SL. Socioeconomic status, neighbourhood social conditions and neural tube defects. Am J Public Health. 1998;88(11):1674-80.

Vieira AR. Birth order and neural tube defects: a reappraisal. J Neurol Sci. 2004;217(1):65-72.

Obeidat AZ, Amarin Z. Neural tube defects in the north of Jordan: is there a seasonal variation?. J Child Neurol. 2010;25(7):864-6.

Obeidat AZ, Amarin Z. Neural Tube Defects in the North of Jordan: Is There a Seasonal Variation? Journal of Child Neurology. 2010;25(7):864-6.

Sharma R. Birth defects in India: Hidden truth, need for urgent attention. Indian J Hum Genet. 2013;19(2):125-9.

Blencowe H, Cousens S, Modell B, Lawn J. Folic acid to reduce neonatal mortality from neural tube disorders. Int J Epidemiol. 2010;39(Suppl 1):i110-21.

Lennon CA, Gray DL. Sensitivity and specificity of ultrasound for the detection of neural tube and ventral wall defects in a high-risk population. Obstet Gynecol. 1999;94:562-6.