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The Pan African Medical Journal 2022
Topics: Anencephaly; Female; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 35812260
DOI: 10.11604/pamj.2022.42.11.35107 -
Reproductive Health Oct 2022Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the exact prevalence of this common neural tube defect; thus, carried out through systematic review and meta-analysis, the present study was conducted to determine the worldwide prevalence, incidence and mortality of anencephaly.
METHODS
Cochran's seven-step instructions were used as the guideline. Having determined the research question and inclusion and exclusion criteria, we studied MagIran, SID, Science Direct, WoS, Web of Science, Medline (PubMed), Scopus, and Google Scholar databases. Moreover, the search strategy in each database included using all possible keyword combinations with the help of "AND" and "OR" operators with no time limit to 2021. The I test was used to calculate study heterogeneity, and Begg and Mazumdar rank correlation tests were employed to assess the publication bias. Data were analyzed by Comprehensive Meta-Analysis software (Version 2).
RESULTS
In this study, the statements of Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) were used. In the first stage, 1141 articles were found, of which 330 duplicate studies were omitted. 371 articles were deleted based on the inclusion and exclusion criteria by reviewing the title and abstract of the study. 58 articles were removed by reviewing the full text of the article because it was not relevant to the research. 360 studies with a sample size of 207,639,132 people were considered for the meta-analysis. Overall estimate of the prevalence, incidence and attenuation of anencephaly worldwide were 5.1 per ten thousand births (95% confidence interval 4.7-5.5 per ten thousand births), 8.3 per ten thousand births (95% confidence interval 5.5-9.9 per ten thousand births), 5.5 per ten thousand births (95% confidence interval 1.8-15 per ten thousand births) respectively the highest of which according to the subgroup analysis, belonged to the Australian continent with 8.6 per ten thousand births (95% confidence interval 7.7-9.5 per ten thousand births).
CONCLUSION
The overall prevalence of anencephaly in the world is significant, indicating the urgent need for preventive and treating measures.
Topics: Anencephaly; Australia; Humans; Neural Tube Defects; Prevalence
PubMed: 36253858
DOI: 10.1186/s12978-022-01509-4 -
Nutrients Nov 2016Neural tube defects (NTDs) are a group of severe congenital malformations, induced by the combined effects of genes and the environment. The most valuable finding so far... (Review)
Review
Neural tube defects (NTDs) are a group of severe congenital malformations, induced by the combined effects of genes and the environment. The most valuable finding so far has been the protective effect of folic acid supplementation against NTDs. However, many women do not take folic acid supplements until they are pregnant, which is too late to prevent NTDs effectively. Long-term intake of folic acid-fortified food is a good choice to solve this problem, and mandatory folic acid fortification should be further promoted, especially in Europe, Asia and Africa. Vitamin B2, vitamin B-6, vitamin B-12, choline, betaine and -3 polyunsaturated fatty acids (PUFAs) can also reduce the NTD risk by interacting with the one-carbon metabolism pathway. This suggest that multivitamin B combined with choline, betaine and -3 PUFAs supplementation may have a better protective effect against NTDs than folic acid alone. Genetic polymorphisms involved in one-carbon metabolism are associated with NTD risk, and gene screening for women of childbearing age prior to pregnancy may help prevent NTDs induced by the risk allele. In addition, the consumption of alcohol, tea and coffee, and low intakes of fruit and vegetable are also associated with the increased risk of NTDs, and should be avoided by women of childbearing age.
Topics: Anencephaly; Animals; Carbon; Dietary Supplements; Female; Folic Acid; Folic Acid Deficiency; Food, Fortified; Gene-Environment Interaction; Humans; Maternal Nutritional Physiological Phenomena; Nutritional Status; Nutritive Value; Pregnancy; Recommended Dietary Allowances; Risk Factors
PubMed: 27886045
DOI: 10.3390/nu8110741 -
Journal of Perinatal Medicine Oct 2018Objective To review the obstetric impact and natural history of anencephalic pregnancies beyond the age of viability. Study design A retrospective chart review of all...
Objective To review the obstetric impact and natural history of anencephalic pregnancies beyond the age of viability. Study design A retrospective chart review of all cases with a prenatal diagnosis of anencephaly who delivered after 24 weeks' gestation during the period 1990 until 2016. Obstetric outcomes including mode of delivery, live births, shoulder dystocia, antepartum haemorrhage (APH), postpartum haemorrhage (PPH) and uterine rupture were studied. Results A total of 42 cases were studied. The average gestational age at diagnosis was 22 weeks (range 10-41). The average gestational age at birth was 36 weeks (range 25-44 weeks). Induction of labour was performed in 55% (23/42) of the cases. Livebirths were documented in 40% (17/42) of the cases. The average birth weight was 1597±746 g. The rate of vaginal birth was 69% (29/42), the overall rate of caesarean section was 31% (13/42), with a primary caesarean section in 31% (4/13) and a repeat caesarean section in 69% (9/13) of the patients. There were two cases of shoulder dystocia. No other complications were encountered. Conclusion Overall, anencephaly is not associated with an increased risk of obstetric complications; however, there is a tendency towards delivery via repeated caesarean section in women with a previous uterine scar and anencephaly. The prenatal counselling of potential obstetric outcomes could be of robust value for parents who opt to continue with anencephalic pregnancies.
Topics: Adult; Anencephaly; Delivery, Obstetric; Female; Humans; Pregnancy; Retrospective Studies; Young Adult
PubMed: 29570453
DOI: 10.1515/jpm-2017-0363 -
British Medical Journal Mar 1958
Topics: Abnormalities, Severe Teratoid; Anencephaly
PubMed: 13510775
DOI: No ID Found -
BMJ Case Reports Apr 2022Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains...
Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.
Topics: Abortion, Induced; Anencephaly; Female; Fetus; Humans; Neural Tube Defects; Pregnancy; Prenatal Diagnosis
PubMed: 35470163
DOI: 10.1136/bcr-2021-244682 -
Cells Jun 2023Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural...
Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural tube. These conditions lead to either universal death (anencephaly) or severe lifelong complications (spina bifida). Despite hundreds of genetic mouse models of neural tube defect phenotypes, the genetics of human NTDs are poorly understood. Furthermore, pharmaceuticals, such as antiseizure medications, have been found clinically to increase the risk of NTDs when administered during pregnancy. Therefore, a model that recapitulates human neurodevelopment would be of immense benefit to understand the genetics underlying NTDs and identify teratogenic mechanisms. Using our self-organizing single rosette cortical organoid (SOSR-COs) system, we have developed a high-throughput image analysis pipeline for evaluating the SOSR-CO structure for NTD-like phenotypes. Similar to small molecule inhibition of apical constriction, the antiseizure medication valproic acid (VPA), a known cause of NTDs, increases the apical lumen size and apical cell surface area in a dose-responsive manner. GSK3β and HDAC inhibitors caused similar lumen expansion; however, RNA sequencing suggests VPA does not inhibit GSK3β at these concentrations. The knockout of , a well-known NTD-related gene, also caused expansion of the lumen, as well as reduced f-actin polarization. The increased lumen sizes were caused by reduced cell apical constriction, suggesting that impingement of this process is a shared mechanism for VPA treatment and -KO, two well-known causes of NTDs. Our system allows the rapid identification of NTD-like phenotypes for both compounds and genetic variants and should prove useful for understanding specific NTD mechanisms and predicting drug teratogenicity.
Topics: Pregnancy; Female; Humans; Mice; Animals; Valproic Acid; Anencephaly; Glycogen Synthase Kinase 3 beta; Mice, Knockout; Neural Tube Defects; Spinal Dysraphism; Brain; Microfilament Proteins
PubMed: 37443734
DOI: 10.3390/cells12131697 -
Cellular and Molecular Life Sciences :... Sep 2013The development of the embryonic brain critically depends on successfully completing cranial neural tube closure (NTC). Failure to properly close the neural tube results... (Review)
Review
The development of the embryonic brain critically depends on successfully completing cranial neural tube closure (NTC). Failure to properly close the neural tube results in significant and potentially lethal neural tube defects (NTDs). We believe these malformations are caused by disruptions in normal developmental programs such as those involved in neural plate morphogenesis and patterning, tissue fusion, and coordinated cell behaviors. Cranial NTDs include anencephaly and craniorachischisis, both lethal human birth defects. Newly emerging methods for molecular and cellular analysis offer a deeper understanding of not only the developmental NTC program itself but also mechanical and kinetic aspects of closure that may contribute to cranial NTDs. Clarifying the underlying mechanisms involved in NTC and how they relate to the onset of specific NTDs in various experimental models may help us develop novel intervention strategies to prevent NTDs.
Topics: Anencephaly; Animals; Brain; Humans; Mutation; Neural Tube; Neural Tube Defects
PubMed: 23242429
DOI: 10.1007/s00018-012-1227-7 -
Saudi Medical Journal Jan 2016
Topics: Anencephaly; Folic Acid; Food, Fortified; Humans; Mediterranean Region; Oman; Saudi Arabia; Spinal Dysraphism; Vitamin B Complex
PubMed: 26739968
DOI: 10.15537/smj.2016.1.13550 -
Canadian Medical Association Journal Sep 1958
Topics: Abnormalities, Severe Teratoid; Anencephaly; Humans; Medical Records
PubMed: 13573288
DOI: No ID Found