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American Journal of Obstetrics and... Dec 2020
Review
Topics: Abortion, Induced; Amniotic Band Syndrome; Anencephaly; Bone Diseases, Developmental; Diagnosis, Differential; Digestive System Abnormalities; Female; Heart Defects, Congenital; Hernias, Diaphragmatic, Congenital; Humans; Karyotyping; Kidney; Microarray Analysis; Microcephaly; Neural Tube Defects; Palliative Care; Pregnancy; Severity of Illness Index; Spina Bifida Cystica; Triploidy; Trisomy; Ultrasonography, Prenatal
PubMed: 33168213
DOI: 10.1016/j.ajog.2020.08.176 -
The Journal of the Medical Society of... Nov 1965
Topics: Anencephaly; Female; Humans; Infant, Newborn; Pregnancy
PubMed: 5213502
DOI: No ID Found -
Transplantation Proceedings Aug 1988
Review
Topics: Anencephaly; Humans; Infant, Newborn; Prognosis; Tissue Donors
PubMed: 3043851
DOI: No ID Found -
Romanian Journal of Morphology and... 2020Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial... (Review)
Review
Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium, with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase (MTHFR) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha (PDGFRA), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 (CELSR1), Vang-like 1 (VANGL1) and Vang-like 2 (VANGL2), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management.
Topics: Anencephaly; Female; Humans; Male; Polymorphism, Genetic
PubMed: 33544785
DOI: 10.47162/RJME.61.2.03 -
Clinical Pediatrics Jan 1971
Topics: Anencephaly; Counseling; Female; Humans; Hydrocephalus; Infant, Newborn; Male; Pregnancy; Spinal Dysraphism
PubMed: 4925833
DOI: 10.1177/000992287101000102 -
Scientific Reports Dec 2021Anencephaly is a severe anomaly of the brain that results from the failure of the cephalic part of the neural tube to close during the fourth week. It occurs at least in... (Meta-Analysis)
Meta-Analysis
Anencephaly is a severe anomaly of the brain that results from the failure of the cephalic part of the neural tube to close during the fourth week. It occurs at least in one per thousand births and is the major cause of fetal loss and disabilities in newborns. The objective of this review is to determine the birth prevalence of anencephaly in Africa. We identified relevant studies via a search of databases like PubMed Central, PubMed/Medline, Science Direct, Joanna Briggs Institute, African Journals Online, Embase, Google Scholar, Web of Science, and Cochrane Library. After examining the heterogeneity of studies via the Cochran Q test and I test (and Forest plot for visual inspection), the prevalence of anencephaly was estimated using the random-effect meta-analysis model. Consequently, we carried out subgroup, sensitivity, meta-regression, trim and fill, time-trend, and meta-cumulative analyses. In this systematic review and meta-analysis, the twenty-four studies reported a total of 4,963,266 births. The pooled birth prevalence of anencephaly in Africa was 0.14% (95% CI: 0.12, 0.15%). Higher burden of anencephaly was detected in Ethiopia (0.37%, CI: 0.15, 0.58%), Algeria (0.24%, CI: 0.24, 0.25%), and Eritrea (0.19%, CI: 0.19, 0.19%). The higher pooled prevalence of anencephaly was observed in the studies that included both live births and stillbirths (0.16%) and in studies done after the year 2010 (0.25%) whereas, the lower burden was detected among countries that had a mandatory folic acid fortification (0.05%). High birth prevalence of anencephaly was detected in Africa. Strong prevention and control measures should be the priority because of an increment in the magnitude of anencephaly. Helping in prevention programs, which should be the ultimate contribution of this study to the field.
Topics: Africa; Anencephaly; Disease Susceptibility; Female; Humans; Male; Population Surveillance; Prevalence
PubMed: 34887455
DOI: 10.1038/s41598-021-02966-w -
Seminars in Neurology 1997In 1995 the American Medical Association's ethics council issued an opinion calling for the direct procurement of organs from anencephalic newborns, making them an... (Review)
Review
In 1995 the American Medical Association's ethics council issued an opinion calling for the direct procurement of organs from anencephalic newborns, making them an exception to the "dead donor" rule. Such a firestorm erupted that the Council for Ethical and Judicial Affairs withdrew its opinion. Although the AMA has called for further research into possible "consciousness" in anencephalic newborns, present studies convincingly demonstrate that the brain stems of these infants are almost completely devoid of any evidence of even primitive functional organization. New studies indicate that cerebral absence causes unusual behaviors such as stiffening and hyperirritability that can be detected prenatally. Although widespread testing and screening in recent years has drastically reduced the number of anencephalic newborns, the discussion of use continues, raising ethical issues that pertain to other marginal patients such as those in persistent vegetative states. There are two schools of thought on the permissibility of using anencephalic newborns as organ sources: physicalism and personalism. Physicalism holds that all humans are so precious that no exceptions can be made regarding organ procurement, even in the case of anencephaly. Personalism sees moral worth related to one's potential or actual mental capacities, and because of anencephalic newborns' uniqueness, believes considerable liberties can be taken here. Most bioethicists are themselves in the personalist camp, but many have questions about changing the law to allow for a proposal such as the AMA Council's, because of the social impact of that change.
Topics: Anencephaly; Ethics, Medical; Humans; Infant, Newborn; Tissue and Organ Procurement; United States
PubMed: 9311067
DOI: 10.1055/s-2008-1040936 -
American Journal of Obstetrics and... Sep 2023Using national birth-registry data, composite maternal morbidity is increased in pregnancies affected by anencephaly when compared to unaffected pregnancies.
Using national birth-registry data, composite maternal morbidity is increased in pregnancies affected by anencephaly when compared to unaffected pregnancies.
Topics: Pregnancy; Female; Humans; Anencephaly; Prenatal Diagnosis
PubMed: 37182756
DOI: 10.1016/j.ajog.2023.05.003 -
The New England Journal of Medicine Mar 1990
Review
Topics: Anencephaly; Ethics, Medical; Female; Humans; Infant, Newborn; Pregnancy; Tissue and Organ Procurement
PubMed: 2406598
DOI: 10.1056/NEJM199003083221006 -
Frontiers in Neuroendocrinology Jun 1994
Review
Topics: Anencephaly; Animals; Disease Models, Animal; Female; Humans; Neural Tube Defects; Pregnancy
PubMed: 7813743
DOI: 10.1006/frne.1994.1008