Winifred Mary Quinn
St. Mary’s University
Abstract This paper reviews the history, etiology, embryology, prevention, treatment, and the ethical and legal concerns of infants born with the neural tube defect known as anencephaly. Anencephaly is a defect that occurs early in the gestational period of a fetus, caused by the neural tube failing to close completely. This defect results in the lack of the scalp, skull, cranial vault and cerebral hemispheres developing normally. The outcome is either a spontaneous abortion or an infant born with severe birth defects. If the child is carried to birth, the life is expectancy is measured in minutes or hours versus days.
Introduction Anencephaly is the most common congenital anomaly of the neural tube during embryogenesis (Poulose, Tsepov & Fox,2007), occurring in 1/1000 pregnancies (Moore, 2011) . This genetic mutation or neural tube deficit (NTD) occurs during the fourth to sixth week of gestation and is the result of the rostral area of the neural tube failing to close. This condition leads to a lack of development of the telencephalon and the midbrain areas of the brain (Chatzipapas, Whitlow & Economides, 1999). The malformation is characterized by the absence of the scalp, skull, cranial vault, and cerebral hemispheres. The eyes of these babies usually protrude some as the eye sockets are not properly formed. The fetus cannot survive outside of the womb and medical care provided for a live newborn consists of supportive measures only (Moore, 2011). Most cases of Anencephaly lead to spontaneous abortions, with few surviving gestation to nine months (Stemp-Morlock, 2007). The cause of anencephaly is multifactorial; it can be caused by genetic or environmental influences (Moore, 2011) which will be discussed in more detail later in this article. Due to restrictions on abortions in many areas, the birth of a child with anencephaly can lead to emotional trauma to the mother (Dinz,
References: Amarin, Z.O. & Obeidat, A.Z. (2010). Effect of folic acid fortification on the incidence of neural tube defects American Medical Association, Council of Judicial Affairs (2002). Anencephalic Organ donation. 1845- 1857. Bindu, P.S., Gayathri, N., Bharath, R.D., Mahadevan, A., Sinha, S. & Taly, A.B. (2010). Pattern recongintion on brain magnetic resonance imaging in alpha dystroglycanopathies Canfield, M.A., Marengo, L., Ramadhani, T.A., Suarez, L., Brender, J.D. & Scheuerle, A. (2009). The prevalence and predictors of anencephaly and spina bifida in Texas Cebesoy, Y., Bahar, F., Balat, O., Dikensoy, E., Celik, H., & Erel, O. (2010). The relationship of ceruloplasmin and neural tube defects. The Turkish-Germann Gynecology Association. 11, 86-88. doi: 10.5152/jgga.2010.05. Charon, P. (2011). Etienne Geoffroy Saint-Hilaire (1772-1844) and anencephaly: Contribution of one naturalist to medical knowledge. Historical Science.38, 365-83. Chatkupt, S., Skurnick, J.H., Jaggi, M., Mitruka, K., Koenigsberger, M.R. & Johnson, W.G. (2003). Study of genetics, epidemiology and vitamin usage in familial spina bifida in the United States. Neurology.44, 65-70. Chatzipapa, I.K., Whitlow, B.J. & Economides, D.L. (1998). The ‘Mickey Mouse’ sign and the diagnosis of anencephaly in early pregnancy Dinz, D. (2007). Selective abortion in Brazil: The anencephaly case. Developing World Bioethics. 7(2), 64-67. Dinz, D. (2005). Aboroto en Brazil. Cadernos de Sie Publica. 21, 675-682. Flannery, E.J. (1995). One advocate 's viewpoint: Conflicts and tensions in the Baby K case. Journal of Law, Medicine & Ethics Ford, N.M.(2004).Newborns and organ donation: Some guidelines for decision making. Ethics and Medics Fost, N. (2004). Reconsidering the dead donor rule: is it important that organ donors be dead? Kennedy Institute of Ethics Journal Glover J.J. & Rushton C. (1995). From Baby Doe to Baby K: evolving challenges in pediatric ethics. The Journal Of Law, Medicine & Ethics: A Journal Of The American Society Of Law, Medicine & Ethics.23 (1), 5-6. Greenhouse, L. (1994, February 20). Court order to treat baby with partial brain prompts debate on costs and ethics" Hendricks, K.A., Simpson, J.S. & Larson R.D. (1999). Neural tube defects along the Texas-Mexico border. American Journal of Epidemiology. 149(8), 1119-1127. Kondo, A., Kamihira, O. & Ozawa, H. (2009). Neural tube defects: Prevalence, etiology and prevention. Lyon, J. (2008). Anencephaly and organ transplantation. International Journal of Gynecology and Obstetrics Matter of Baby K. 16 F.3d 590 (4th Cir. 1994). Mersereau, P. & Kilker, K. (2004). Spina bifida and anencephaly before and after folic acid mandate- United States, 1995-1996 and 1999-2000 Moore, L. (2011). Anencephaly. Journal of Diagnostic Medical Sonography. 26(6), 28-289. Morris, J.K. & Wald, N.J. (1999). Quantifying the decline in the birth prevalence of neural tube defects in England and Wales Poulose, T., Tsepov, D. & Fox, R. (2007). Familial exencephaly-anencephaly sequence and translocation. Journal of Obstetrics and Gynecology Reis, H.E. (2000). John William Ballantyne 1861-1923. Journal of Obstetrics & Gynaecology. 20(4). Shurleff, D.B. (2004). Epidemiology of neural tube defects and folic acid. Endocrine, Metabolic & Immune Disorders Stemp-Morlock, G. (2007). Reproductive health: Pesticides and anencephaly. Environmental Health Perspectives Stryker P.J. Letter about a monstrous birth. Philadelphia Medical Museum 6:14, 1809 Tan, U Tomson, T., Perucca, E. & Battino, D. (2004). Epilepsia. 45(10), 1171-1175. Torres, A. & Forrest, J. (1988). Why do women have abortions. Family Planning Perspectives, 20 (4), 169-176 Verrotti, A., Tana, M., Piernicola, P. Chiarelli, F. & Latini, G. (2006). Recent advances on neural tube defects with special reference to valproic acid Williams, H. (2008). A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida Zhiping, Z., Huibo, C., Yuanyuan, L., Ting, Z., Jizhen, Z., Xiaoying, Z. & Jianxin, W. (2009). MicroRNAs: American Medical Association, Council on Ethical and Public Sector Managed Care: 42 (6), 367-374 In the Matter of Baby K, 832 R Supp. 1022 (E.D. Va. 1993), aff 'd, 16 F.3d 590 (4th Cir. 1994), cert, denied, 115 S. Ct. 91 (1994).