Winifred Mary Quinn
St. Mary’s University
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.
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, 2007). This paper will also review the ethical and legal dilemmas that may ensue in regards to medical treatment and organ procurement. History
Anencephaly has probably always existed since the beginning of the human experience, but was not described medically until the 16th century (Reis, 2000). The oldest reported case of anencephaly was reported by St. Hilare during an autopsy conducted for the Egyptian Antiquity Foundation in 1742. A fetal mummy was discovered during an excavation in Egypt which demonstrated anencephaly (Charon, 2011). Mogagni also conducted research from 1742-1762 . He detailed anatomical observations and created the first nomenclature and classification of this disorder. Mogagni contributed to the embryology field by delineating the stages of anencephaly in the embryonic life of the fetus. He described several clinical characteristics, amniotic flanges, physiopathological concept, and origin of this malformation (Charon, 2011). In 1809 Dr. P. J. Stryker of Somerset, New Jersey, wrote to the editor of the Philadelphia Medical Museum, seeking an answer concerning an anencephalic child which he delivered. Dr. Stryker wrote “Mr. F. was a gentleman of uncommon vivacity, and frequently, during Mrs. F.'s pregnancy, when he came in her room and found no third person present, would walk up to her, seize her cranium with his fingers extended, and observe humorously, that if she presented him with another daughter instead of a son, thus he would pinch it in the head.” Dr. Stryker thought that this behavior may have in some way contributed to the deformity that he observed in the child. Neither of the parents was permitted to see the infant, since the doctor felt that it would be too emotionally upsetting to the for them (Stryker, 1809). This letter may indicate a lack of knowledge of this defect, at the beginning of the 17th century. Etiology
Neural tube deficits (NTDs) fall into two categories depending on the location. If the...