Title: A Fetal Study of Craniorachischisis, With Emphasis on Prenatal Diagnosis and Prevention
Authors: Dr Gayathri. P*, Dr.S.Saritha, Dr D. Nagajyothi, Dr T.V.Ramani, Mrs N.Himabindu
DOI: http://dx.doi.org/10.18535/jmscr/v4i4.27
Introduction: Central nervous system (CNS) malformations constitute a sizeable percentage of the total incidence of the congenital malformations second only to cardiac malformations. Failure of fusion of cephalic part of neural tube is known as Exencephaly and caudal part of neural tube is Spina bifida. Aim: This study was aimed at providing a comprehensive knowledge of Craniorachischis is which is characterized by anencephaly accompanied by open spina bifida. It was also associated with congenital fissure in the skull and vertebral column. This is the severe form of NTDs and recent evidences proves folic acid reduces the occurrence of NTDs 50-70% when taken periconceptionally. Therefore emphasis was based on prenatal diagnosis and prevention. Methods and Results: The present study includes 1000 live births with 100 stillborn foetuses and abortuses to elucidate Craniorachischisis. The two unclaimed foetuses, one Craniorachischisis totalis and other being Craniorachischisis with omphalocele we resent from the department of Obstetrics and Gynecology. The detail Family and Obstetric history was not available. Discussion: Neural tube defect (NTDs) is an embryonic induction disorder which results from failure of formation of both mesoderm and neuroectoderm. The reduction of 50-70% of NTDs following periconceptional folic acid administration initiated series of clinical studies by number of authors. Conclusion: In conclusion most NTDs are sporadic and both genetic and non-genetic environmental factors are involved in its etiology. Keywords: Craniorachischisis, Omphalocele, Neural tube defects (NTDs), Spina bifida and Anencephaly. 1. R.Padmanabhan & Shamer Singh. Axial Skeletal Malformations Associated with CranioschisisAperta and Exencephaly. Actaorthop, scand, 1983; 54:104-112. 2. Lemire RJ. Neural tube defects. JAMA 1988; 259:558-62. 3. Lorenzo.D. Botto et al. Neural Tube Defects. The England Journal of Medicine.1993; 341 (20):1501-19. 4. Mustafa A.S, Waleed R M, M Z. Seidahmed. Classification, clinical features, and genetics of neural tube defects. Saudi Med J 2014; 35: S5-S14. 5. Sharda B. Menasinkai: A study of neural tube defects. J. Anat. Soc. India. Vol. 4(1), 2011; 59(2) 162-167(2010). 6. Deopujari R, Mangalgiri A, Dixit A and Longia GS. Neural Tube Defect Spectrum- Study of Craniorachischisis. People'sDeopujari R, Mangalgiri A, Dixit A and Longia GS. Neural Tube Defect Spectrum- Study of Craniorachischisis. People's J of Sci Research 2011; 4(1): 23-7. 7. Chih-Ping Chen et al. Concomitant Craniorachischisis and Omphalocele In a Male Fetus: Prenatal MRI Findings and Literature review. Taiwan Obstet Gynecol. 2009. 48(3): 286-291. 8. Frosch MP, Anthony DC, Girolami UD: The Central Nervous System. In: Robbins and Cotran, Pathological basis of disease. Eds. V Kumar, A k Abbas, N Fausto. 7th Edn.; W.B. Saunders Elsevier, Philadelphia. 2004; pp 1353-1354. 9. Richard G E. Neural tube defects in the neonatal period. http://emedicine.medscape.com/article/1825866. 10. Padmanabhan, R. Etiology, pathogenesis and prevention of neural tube defects. Congenit. Anom. 2006, 46, 55–67. 11. Tania M, Jean-Paul Borg. Neural Tube Defects: From a Proteomic Standpoint. Metabolites 2015, 5,164-183. 12. Copp, A.J.; Greene, N.D. Neural tube defects—Disorders of neurulation and related embryonic processes. Wiley Interdiscip. Rev. Dev. Biol. 2013, 2, 213–227. 13. Rifat, Y.; Parekh, V.; Wilanowski, T.; Hislop, N.R.; Auden, A.; Ting, S.B.; Cunningham, J.M.; Jane, S.M. Regional neural tube closure defined by the Grainy head-like transcription factors. Dev. Biol. 2010, 345, 237–245. 14. Detrait ER, George TM, Etchevers HC, Gilbert JR, Vekemans M, Speer MC: Human Neural Tube Defects: Developmental biology, epidemiology and genetics. Neurotoxicology& Teratology, 2005; 27(3): 515–524. 15. Prashanth R et al .Anencephaly with Cervical Rachischisis (Craniorachischisis) and congenital Bronchogenic Cyst: An Autopsy Case Report of a Rare Association. J Pub Health Med Res, 2014; 2(2): 61-3. 16. Johnson KM, Suarez L, Felkner MM, Hendricks K: Prevalence of Craniorachischisis in a Texas-Mexico border population. Birth defects Research, Part A: Clinical and Molecular Teratology, 2004; 70(2): 92-94. 17. Myla EM, Benjamin B, Shawn F, Gideon K. Maternal Hyperthermia and the risk of Neural Tube Defects In Offspring. Lippincott Williams & Wilkins 2005, volume 16(2): 216-19. 18. Cunningham FG, Leveno KJ, Bloom SL, Hauth JC, Gilstrap L, Wenstrom KD: Genetics. In: Williams’s obstetrics. 22nd Edn; McGraw-Hill, New York, 2005; pp 285-312. 19. Zohn IE, Anderson KV, Niswander L. The Hectd1 ubiquitin ligase is required for development of the head mesenchyme and neural tube closure. Dev Biol. 2007; 306:208–221. [PubMed: 17442300] 20. Wu JI, Rajendra R, Barsi JC, Durfee L, Benito E, Gao G, et al. Targeted disruption of Mib2 causes exencephaly with a variable penetrance. Genesis. 2007; 45:722–727. [PubMed: 17987667] 21. Narimatsu M, Bose R, Pye M, Zhang L, Miller B, Ching P, et al. Regulation of planar cell polarity by Smurf ubiquitin ligases. Cell. 2009; 137:295–307. [PubMed: 19379695] 22. Mills JL, Scott JM, Kirke PN, McPartlin JM, Conley MR, Weir DG, et al. Homocysteine and neural tube defects. J Nutr1996; 126: 756-760. 23. Beaudin AE, Stover PJ. Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview. Birth Defects Res A ClinMolTeratol2009; 85: 274-284.Abstract
References