Anencephaly, Neural Tube Defect, Rachischisis, İncomplet Abortion, First Trimester


Anencephaly, in which a substantial part of the brain, skull, or scalp is missing, is a lethal neural tube defect (NTD) that occurs during the fourth week of pregnancy after failed cranial neuropore closure. One in every 1,000 births is anencephalic, and newborns with this NTD are not viable or treatable. Associated with anencephaly is rachischisis, or severe incomplete neural tube closure and exposure of the spinal cord. Ultrasonography can quickly diagnose anencephaly. Like other NTDs, nutritional and environmental factors both play a role in the development of anencephaly. Here, we report and discuss an unusual case of a 12-week gestation anencephalic fetus with craniospinal rachischisis and its embryological roots.

In our case, except from the low socio-economic life of the patient, the absence of a predisposing factor that could cause such an anomaly, the abortion being in the first trimester and the occurrence in the first pregnancy of the patient as a result of 5-year infertility made us think that pathology examination of the abortus material is important in complet or incomplete abortions.


Download data is not yet available.


Berry, R. J., Li, Z., Erickson, J. D., Li, S., Moore, C. A., Wang, H. & Mulinare, J. (1999). Prevention of neural-tube defects with folic acid in China. Engl J Med . DOI:

Blancquaert, D., Storozhenko, S., Loizeau, K., De Steur, H., De Brouwer, V., Viaene, J., Ravanel, S., Rébeillé, F., Lambert, W. & Van Der Straeten, D. (2010). Folates and Folic Acid: From Fundamental Research Toward Sustainable Health. Critical Reviews in Plant Sciences 29(1), 14–35. Retrieved from 10.1080/07352680903436283 DOI:

Cherian, A., Seena, S., Bullock, R. K. & Antony, A. C. (2005). Incidence of neural tube defects in the least-developed area of India: a population-based study. The Lancet 366(9489), 930–931. Retrieved from 10.1016/s0140-6736(05)67319-9 DOI:

Detrait, E. R., George, T. M., Etchevers, H. C., Gilbert, J. R., Vekemans, M. & Speer, M. C. (2005). Human neural tube defects: Developmental biology, epidemiology, and genetics. Neurotoxicology and Teratology 27(3), 515–524. Retrieved from 10.1016/ DOI:

Gupta, H. (2004). Neural tube defects and folic acid. Indian Pediatr 41577586.

Houk, V. N., Oakley, G. P., Erickson, J. D., Mulinare, J. & James, L. M. (1992). Recommendations for the Use of Folic Acid to Reduce the Number of Cases of Spina Bifida and Other Neural Tube Defects. Atlanta: Centers for Disease Control 26, 23–34.

Kulkarni, M. L., Mathew, M. A. & Reddy, V. (1989). The range of neural tube defects in southern India. Archives of Disease in Childhood 64(2), 201–204. Retrieved from 10.1136/adc.64.2.201 DOI:

Li, Z., Ren, A., Zhang, L., Ye, R., Li, S. & Zheng, J. (2006). Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province China. BDR: A Clinical and Molecular Teratology 4237240. DOI:

Martinelli, M., Scapoli, L., Pezzetti, F., Carinci, F., Carinci, P., Stabellini, G., Bisceglia, L., Gombos, F. & Tognon, M. (2001). C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers? American Journal of Medical Genetics 98(4), 357–360. Retrieved from<357::aid-ajmg1108>;2-f 10.1002/1096-8628(20010201)98:4<357::aid-ajmg1108>;2-f DOI:<357::AID-AJMG1108>3.0.CO;2-F

Moore, K. L. & Persud, T. (2009). The Developing Human - Clinically Oriented Embriology, 8th edn. Sauders 62–75.

Ray, J. G., Wyatt, P. R., Thompson, M. D., Vermeulen, M. J., Meier, C., Wong, P.-Y., Farrell, S. A. & Cole, D. E. C. (2007). Vitamin B12 and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population. Epidemiology 18(3), 362–366. Retrieved from 10.1097/01.ede.0000257063.77411.e9 DOI:

Salder, T. W. & Lagman’s, (2012). Medical Embryology 63(70), 296–297. DOI:

Tuncbilek, E. (2004). neural tube defect prevalence and high in Turkey what can be done to prevent. Child Health and Diseases Journal 47, 79–84.

Van Der Put, N., Gabrels, F., Stevens, E. & Frans, J. M. (1998). A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Human Genet 510441051. DOI:

Verma, I. C. (2000). Burden of genetic disorders in india. The Indian Journal of Pediatrics 67(12), 893–898. Retrieved from 10.1007/bf02723953 DOI:



How to Cite