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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
Anencephaly is a lethal condition in which there is an absence of both cerebral hemispheres and the cranial vault. The undeveloped brain lies in the base of the skull as a small vascular mass of neural tissue (Figure 9.5). Anencephaly is clearly caused by a defect in the anterior neuropore.
Common Tips on Communication
Published in Justin C Konje, Complete Revision Guide for MRCOG Part 3, 2020
Your baby has a major abnormality in the head. This abnormality is known as anencephaly and is characterised by the absence of most of the baby’s head. Essentially, the upper part of the baby’s skull and brain has not developed (that is, a major part of the brain, skull and scalp). The baby will, therefore, be born without the front part of the brain (forebrain) and the thinking and coordinating part of the brain (cerebrum). This abnormality is not compatible with life. In fact, babies with anencephaly are stillborn (i.e. born dead) in about 75% of cases. Those born alive only survive for a few hours, days or weeks before they die. The remaining parts of the brain are often not covered by bone or skin.
Organ Transplants and Anencephalic Infants
Published in David Lamb, Organ Transplants and Ethics, 2020
Anencephaly (which means literally ‘no brain’) is generally defined as the congenital absence of skull, scalp and forebrain (cerebral hemispheres). In most cases its cause is unknown but the critical errors in embryogenesis are thought to occur during the first two weeks of gestation. Only 25 to 45 per cent of anencephalics are born alive of whom about 40 per cent survive for 24 hours, although in rare cases anencephalic infants have survived for weeks or months. Only the live births are suitable for organ donation.
Reflections from an abortion policy conference in Costa Rica, October 2022
Published in Sexual and Reproductive Health Matters, 2023
I was invited to the conference to present findings from my research on global abortion policy reform and share ideas on how this evidence base could be leveraged by activists and organisers. I am a Costa Rican primary care physician and I have practised medicine in rural and urban areas of the country. Since I left Costa Rica nine years ago, I have worked in the field of sexual and reproductive public health and health policy. I have been interested in abortion policy ever since I started seeing patients in situations where I found my hands to be tied. I remember from my internship year a woman who came to the emergency room to ask to be induced to deliver her baby who had been diagnosed as anencephalic months prior, and all I could think about was how the system and policies had failed this woman, and so many before her. I also remember another instance where a woman was brought in with a perforated uterus from a failed coat-hanger abortion – and the resident on call that night called the police. In 2018, when the news of the Irish referendum circled the globe, I remember thinking about how it came to be that a small, very Catholic country, not too different from Costa Rica, was able to succeed in its campaign for abortion rights. This thought is what I then used as my driving force behind my dissertation research question. My conference presentation was framed around the findings from a scoping review of the literature to assess for drivers of abortion policy reform described in the academic literature since the year 2000.
Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center
Published in Fetal and Pediatric Pathology, 2023
Ezgi Yılmazer Yonder, Murat Cagan, Ozgur Deren, Kadri Safak Gucer
In CNS pathologies, we found neural tube defects and hydrocephalus most frequently by US, while ACC was the most frequent autopsy finding. In the study conducted by Kaiser et al. in 2000, anencephaly and hydrocephalus were found most frequently, followed by neural tube defects [8]. Anencephaly was observed only in one case in our study, and prenatal diagnosis with typical US findings was compatible with the autopsy, as expected. In neural tube defect cases, US and autopsy were compatible in all but one fetus. ACC was not detected by US in 11 cases. In a study investigating CNS pathologies, four (3%) cases were reported that were not detected in US and found ACC in autopsy findings [9]. This discrepancy between prenatal US and autopsy findings may have resulted from the difficulty of detecting the presence of callosal abnormalities by US before the 18th gestational week [10]. Moutard et al. emphasized that ACC may cause symptoms such as seizure, EEG disorder, slow speech, mild cognitive deficit, and prenatal diagnosis was important in such cases [11]. The inconsistency in the findings of microcephaly and macrocephaly in 2 cases in our study did not change the clinical management and was considered a minor discrepancy. Since prenatal US may be limited to evaluating the fetal brain, fetal MRI is mostly used as a complementary tool in cases with suspected migration defects. Two cases in our series with polymicrogyria may not have been diagnosed antenatally due to the early gestational week and limitations of US.
Craniorachischisis with Exencephaly
Published in Fetal and Pediatric Pathology, 2021
Jessenia Guerrero, Debra S. Heller, Ada Baisre de Leon
Fetuses with craniorachischisis are characterized by anencephaly, however, occasionally exencephaly, which is recognized by the protruding brain tissue and absence of a calvarium [4], can be seen. The majority of cases of severe open neural tube defects present as anencephaly, with only a small fraction presenting with a disorganized, malformed brain tissue, which is exposed. They are both thought to be opposite ends of the most severe open neural tube defect, with most cases starting as exencephaly and the brain tissue dissolving while exposed to the amniotic fluid, resulting in the most common presentation of anencephaly [5]. Our case is very well preserved with both craniorachischisis and exencephaly, which was diagnosed as anencephaly by sonogram, with the classic microscopic appereance of exencephalic brain, showing ependymoplastomatous rosettes and haphazardly arranged inmature neural tissue [6].