Malformación completa del sistema nervioso central y otras malformaciones asociadas. A propósito de un caso / Complete malformation of the central nervous system and other associated malformations. A case report

La anencefalia es una anomalía gestacional que produce la ausencia de gran parte del cerebro y del cráneo; aunque se desconoce el motivo principal de su aparición, puede estar relacionado con toxinas ambientales, y pobre ingesta de ácido fólico durante el embarazo. Los fetos que padecen de esta malformación, en su mayoría, no llegan a nacer vivos o mueren a las pocas horas. Se presentó una paciente recibida en emergencia en el Centro de Atención Integral Materno Infantil, municipio Ixchiguan, departamento de San Marcos, Guatemala con embarazo a término, según refirió la paciente, sin atención prenatal, dolor en hipogastrio y pérdida de líquido amniótico de un día de evolución. Siendo este un defecto genético multifactorial, para el cual no existe tratamiento, el único recurso para su prevención fue brindar una atención prenatal pormenorizada con énfasis especial en el programa de genética para la detección precoz de anomalías congénitas.

Anencephaly is a gestational anomaly that produces the absence of a large part of the brain and skull; although the main reason for its appearance is unknown, it may be related to environmental toxins and poor intake of folic acid during pregnancy. Most of the fetuses that suffer from this malformation are not born alive or die within a few hours. We present a female patient who was received in the emergency service of the Comprehensive Maternal and Child Care Center in Ixchiguan municipality, San Marcos department, Guatemala, with a full-term pregnancy, as reported by the patient, without prenatal care, hypogastric pain and loss of amniotic fluid of one day of evolution. Since there is no treatment for this multifactorial genetic defect, the only resource for its prevention was to provide detailed prenatal care with special emphasis on the genetics program for the early detection of congenital anomalies.

Study of Central Nervous System Malformations of Perinatal Autopsies

Background: Congenital malformations remain a common cause of perinatal deaths accounting for 10-15% in developing countries like India. They are the most severe disorders of the central nervous system. Although antenatal screening for congenital anomalies has been improved over the years, fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. The present study emphasizes the importance of perinatal autopsy for understanding the cause of death and also conforma?on of the antenatal diagnosis of the spectrum of various congenital CNS malforma?ons. Methods: We studied 644 perinatal autopsies conducted in our hospital. The dura?on of the study was 5 years, from 1st August 2015 to 31st July 2020 that included all perinatal autopsies with gesta?onal age of 22 weeks to less than 7 days. Results: Out of 644 perinatal autopsies 125 cases (19.4%) had congenital anomalies, of which 62 cases (9.6%) showed CNS malforma?ons. The most common CNS anomalies encountered were anencephaly 14 cases (22.6%) followed by 10 cases (16.1%) each of spina bifida and meningocele, and 8 cases (12.9%) of meningomyelocele. In the present study, 6 (9.7%) cases of CNS malforma?ons were associated with known syndromes namely Edward syndrome, Potter’s syndrome, and KlippelFeil syndrome. Along with CNS in 21 (33.9%) cases we observed associated malforma?ons of other systems with 7 cases involving the musculoskeletal system, 3 cases involving the genitourinary system, and 5 (8.1%) cases showing mul?system involvement. Conclusion: Antenatal screening for congenital anomalies has been improved over the years. Even then fetal autopsy remains the gold standard for the iden?fica?on and confirma?on of congenital malforma?ons. Understanding this gives valuable informa?on that can be further helpful in the gene?c counseling of the parents.

Craniocerebral and Spinal Dysraphism with Omphalocele – A Case Report of Primary Neurulation Defect

Background: Anencephaly and Spina bifida are the two most common types of neural tube defects (NTDs). Disrupted formation and closure of neural folds leads to Craniocerebral and spinal dysraphisms. Materials and methods: An 18 week old foetus was received in the department of Anatomy after elective medical termination of pregnancy due to the diagnosis of neural tube defect and associated congenital anomalies. Case Report: The foetus had anencephaly, thoracic-lumbar spina bifida, omphlocele and clubbed foot and hands. The foetus was dissected and studied, to look for abnormal internal structures. On meticulous dissection it was found that there were abnormalities in spine, gastrointestinal system and cranium. Conclusion: Anencephaly is a neural tube defect which has multiple neural and non-neural associated anomalies. A detailed description of the combination of associated anomalies goes a long way in updating knowledge on the same.

Interrupción terapéutica del embarazo en casos de fetos anencefálicos y la objeción de conciencia: comparación entre bioética y jurisprudencia / Therapeutic Termination of Pregnancy in Cases of Anencephalic Fetuses and Conscientious Objection: Comparison Between Bioethics and Jurisprudence / Interrupção terapêutica da gravidez em fetos anencéfalos e objeção de consciência: comparação entre bioética e jurisprudência

Resumen: Si bien la interrupción terapéutica del embarazo en los casos de fetos anencefálicos ha sido ampliamente discutida, y se han llegado a conclusiones éticas que la justifican (si no existe contraindicación médica y se obtiene el consentimiento informado de la mujer), es importante reevaluar el tema. Por ello, se deben contrastar los principios bioéticos con sentencias judiciales de fenómenos jurídicos que están surgiendo en el mundo, y que pueden provocar cambios en los derechos sexuales y reproductivos. No obstante, esto no debe implicar un cambio en los argumentos bioéticos. Asimismo, debido al resurgimiento a nivel global de un conservadurismo moral, que propone un planteamiento en torno a la objeción de conciencia, se torna imperativo analizar desde la perspectiva bioética si la misma puede ser invocada en casos de interrupción terapéutica del embarazo. Para ello, se deberían ponderar los principios bioéticos y utilizar una bioética laica, pluralista y basada en ética de mínimos, la cual busque la dignidad de las personas que enfrentan una gestación de fetos anencefálicos. En ese sentido, la objeción de conciencia no debería utilizarse como instrumento para negar la atención a estas personas.

Abstract: Although the therapeutic interruption of pregnancy in cases of anencephalic fetuses has been widely discussed, and ethical conclusions have been reached that justify it (if there is no medical contraindication and the informed consent of the woman is obtained), it is important to reassess the issue. Hence, bioethical principles must be contrasted with judicial rulings on legal phenomena that are emerging in the world, and that can cause changes in sexual and reproductive rights. However, this should not imply a change in the bioethical arguments. Likewise, due to the global resurgence of moral conservatism, which proposes an approach regarding conscientious objection, it becomes imperative to analyze, from a bioethical perspective, if it can be invoked in cases of therapeutic interruption of pregnancy. To do this, bioethical principles should be weighed and a secular, pluralistic bioethics based on minimum ethics should be used, which seeks the dignity of persons facing an anencephalic fetus gestation. In this sense, conscientious objection should not be used as an instrument to deny care to these individuals.

Resumo: Embora a interrupção terapêutica da gravidez nos casos de fetos anencéfalos tenha sido amplamente discutida e tenham chegado a conclusões éticas que a justifiquem (se não houver contraindicação médica e for obtido o consentimento informado da mulher), é importante reavaliar a questão . Por isso, os princípios bioéticos devem ser contrastados com as decisões judiciais sobre fenômenos jurídicos que estão surgindo no mundo e que podem causar mudanças nos direitos sexuais e reprodutivos. No entanto, isso não deve implicar uma mudança nos argumentos bioéticos. Da mesma forma, devido ao ressurgimento global do conservadorismo moral, que propõe uma abordagem em torno da objeção de consciência, torna-se imperativo analisar na perspectiva bioética se ela pode ser invocada nos casos de interrupção terapêutica da gravidez. Para tanto, deve-se pesar os princípios bioéticos e utilizar uma bioética laica, pluralista, pautada na ética mínima, que busque a dignidade das pessoas diante da gestação de feto anencéfalo. Nesse sentido, a objeção de consciência não deve ser utilizada como instrumento para negar atenção a essas pessoas.

Gran feto acardio: diagnóstico tardío de gestacion gemelar monocorial biamniótica complicada por secuencia TRAP: reporte de un caso y revisión de la literatura / Great acardiac fetus: late diagnosis of monochorionic diamniotic twin pregnancy complicated by sequence TRAP: case report and review of the literature

OBJETIVOS: reportar el caso de una paciente con gestación gemelar monocorial-biamniótica complicada por secuencia TRAP que dio lugar al nacimiento de un feto bomba de 1932 gramos sin malformaciones anatómicas y de un feto acardio anceps de 1800 gramos, y realizar una revisión sobre esta patología y la importancia de su diagnóstico y tratamiento precoces. MATERIALES Y MÉTODOS: se presenta el caso de un feto acardio en una gestante con embarazo sin control estricto en el Hospital San Pedro de Logroño en el año 2019, de interés por su diagnóstico tardío y elevado peso al nacimiento del feto acardio. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, OVID, Embase y SciE-LO con las palabras clave DeCS y términos MeSH. Como criterios de inclusión se consideraron artículos tipo series y reportes de casos y artículos de revisión desde enero de 1950 hasta enero de 2020. RESULTADOS: la búsqueda incluyó 39 referencias bibliográficas sobre las que se repasaron las principales cuestiones teóricas a exponer. El peso del feto acardio de nuestro caso fue muy elevado sin provocar repercusión en el feto sano, en comparación con la bibliografía, lo que aporta singularidad al caso, siendo sólo equiparable la serie de casos de Brassard et al (1999), con pesos de los fetos acardio por encima de 1700 gramos y diferenciándose en 100 gramos del feto bomba. CONCLUSIONES: el feto acardio es una complicación infrecuente de embarazos gemelares monocoriales. Se requiere la presencia de anastomosis vasculares placentarias entre ambas circulaciones. El diagnóstico precoz es importante para disminuir la morbilidad y usar, en la medida de lo posible, técnicas terapéuticas no invasivas.

OBJECTIVES: to report the case of a patient with a monochorionic-biamniotic twin gestation complicated by TRAP sequence that gave rise to the birth of a pump fetus without anatomical malformations (1932 g) and an acardiac anceps fetus (1800 g), and to review this pathology and the importance of its early diagnosis and management. MATERIAL AND METHODS: the case of an acardiac fetus is presented in a pregnant woman without strict control at the Hospital San Pedro de Logroño in 2019, worthwhile because of its late diagnosis and high birth weight. A search of the literature was carried out in the Medline databases via PubMed, OVID, Embase and SciELO with the MeSH terms. As inclusion criteria, we considered series-type articles and case reports, cohorts and review articles from January 1950 to January 2020. RESULTS: 39 bibliographic references were included with the main theoretical questions to be reviewed. Our acardiac fetus weight was very high comparing with the bibiography and without causing repercussion in the healthy fetus, which contributes to the uniqueness of the case, only the series report by Brassard et al (1999) is comparable, with weights of the acardiac fetus above 1700 grams and differing by 100 grams from the pump fetus. CONCLUSIONS: the acardiac fetus is an infrequent complication of monochorionic twin pregnancies. The presence of placental vascular anastomoses between both circulations is required. Early diagnosis is important to decrease morbidity and to use, as far as possible, non-invasive therapeutic techniques.

Prenatal diagnosis of anencephaly and acrania in pregnant females – Report series of eight cases

Acrania and anencephaly are characterized by the partial or complete absence of skull and brain tissue. Due to this, the neural tissue is exposed and it leads to non-function of few parts of the hemispheres. A total of eight cases of acrania and anencephaly were included in the report. Five cases were acrania and three cases were anencephaly. Both cases were diagnosed between 15 and 24 weeks of gestation period. In the present report, all the pregnant women carry fetuses with neural tube defects. Out of five acrania cases, there is a partial or complete absence of cranium in all the cases, and in one case, there is a twin intrauterine gestational sac that was noted. However, out of twin sac, the first one is having a good heart rate (155 bpm) and the second fetus is having no cardiac activity, i.e., early fetal demise. On the other hand, out of three anencephaly cases, two anencephaly cases were diagnosed with partial absence of the fetal brain and the complete absence of the cranium, and in one case, there is a partial absence of cerebral parenchymal tissue above the orbit with the absence of cranial vault. By the use of ultrasonography, we can diagnose the anencephaly and acrania at a very early stage without any side effects. The cause of anencephaly and acrania is dependent on the number of factors one of which is a folic acid deficiency. Sentence is reviewed and corrected): It is always better to consume the folic acid supplements that are advised by the physician during the planning of pregnancy to avoid the congenital anomalies of the fetus like anencephaly and acrania. The ultimate focus of the study is to evaluate the morphology of the fetus in case of anencephaly and acrania which could lead to the early detection of abnormalities and also to create awareness among people to take folic acid supplements to eschew such abnormalities.

Nas vias de interromper ou não a gestação: vivências de gestantes de fetos com anencefalia / On the way to interrupting the gestation or not: experiences of pregnant women with anencephalic fetuses

Resumo A anencefalia é uma malformação caracterizada pela ausência total ou parcial do encéfalo e o Brasil é o quarto colocado em número de nascimentos de fetos anencéfalos no mundo. Existe associação entre anencefalia fetal e maior número de complicações maternas. A partir de 2012 a mulher com gestação de anencéfalo poderá manter ou interromper a gestação, se assim o desejar, sem necessidade de autorização judicial. Objetivos: compreender as vivências das mulheres de fetos com anencefalia e identificar os fatores determinantes para a escolha de interromper ou não interromper a gestação. Estudo qualitativo e método das narrativas de vida, com 12 mulheres, maiores de 18 anos e com diagnóstico de feto anencéfalo, que realizaram a interrupção da gestação ou o parto em uma maternidade pública do Rio de Janeiro. A coleta dos dados foi entre junho e novembro de 2016 e encerrada quando os padrões narrativos alcançaram a saturação progressiva, a partir das recorrências. Os enunciados emergidos após leitura flutuante e aprofundada foram articulados em Núcleos Narrativos e realizada análise comparativa e compreensiva dos dados. Os relatos trouxeram à tona as vivências intensas dessas mulheres, como também as fragilidades existentes em relação ao cuidado e a problemática da interrupção da gestação.

Abstract Anencephaly is a malformation characterized by the total or partial absence of the brain, and Brazil records the fourth largest number of births of anencephalic fetuses in the world. Fetal anencephaly is associated with a more significant number of maternal complications. As of 2012, women with anencephalic gestation were empowered with the right to carry the pregnancy to term or terminate it, if they so desired, without any judicial authorization. Objectives: to understand the experiences of women with fetal anencephaly and to identify the determinant factors for interrupting the gestation or not. This is a qualitative study using the Life Narratives method with 12 women over 18 years old diagnosed with an anencephalic fetus, who interrupted gestation or delivery in a public maternity hospital in Rio de Janeiro. Data were collected between June and November 2016, and the process was finalized when the narrative patterns reached progressive saturation from the recurrences. The statements that emerged following floating and in-depth reading were articulated in Narrative Nuclei, and data comparative and comprehensive analysis was performed. The reports brought to light the intense experiences of these women, as well as the weaknesses existing concerning care and the pregnancy termination issue.

Histological Study of Cerebrum, Cerebellum in Anencephalic & Non-Anencephalic Foetuses.

Anencephaly is one of the most common birth defects. This was a hospital-based case finding study that covered 60 patients with anencephaly & their respective mothers, conducted in hospitals in Bangalore Medical College & Research Institute from 2014 to 2017.METHODSThe study included 60 anencephalic foetuses (23 males & 37 females) of 20-30 weeks & 20 non-anencephalic foetuses (9 males & 11 females). Maternal history was analysed using a questionnaire which includes age factor, environmental factors, medications, family history, consanguineous marriage and febrile illness during pregnancy. The foetuses were examined for external abnormalities & dissected. Dissected foetal cerebrum & cerebellum tissues were processed & stained with H&E using tissue processor.RESULTSIn 100% of cases, all layers of cerebrum & cerebellum of non-anencephalic foetuses were normal. In anencephalic foetuses, cerebrum in 75% cases showed primitive brain cells, astrocytes & glial cells, instead of 5 layers which was described in checklist & in 25 % cases angiomatous masses were seen but primitive brain cells & astrocytes were absent. 91.7% cases of anencephalic foetal cerebellum had 5 cell stages which were the same as non-anencephalic foetuses & 8.3% cases had all the layers but ill formed granular layer. Most of the organs were normally developed. Associated anomalies were also noticed in 70% of cases.CONCLUSIONSThe study emphasizes the complexity of the aetiology behind anencephaly, variability of its presentation & yet unsatisfactory awareness among mothers about folic acid & its beneficial role in preventing anencephaly.

A Study Of Incidence Of Neural Tube Defects And Their Pattern In A Tertiary Care Hospital Of Gurugram

Objective: The study was undertaken to determine the proportion and pattern of Neural Tube Defects (NTD)reported at tertiary care teaching hospital in Gurugram. The incidence of NTDs were determined and comparedwith other studies done in India and other countries.Material and methods: The study was carried out in SGT Medical College Hospital and Research Institute,Gurugram. The total number of deliveries was recorded from 2017- 2019.The aborted fetuses with NTDs wereobserved in detail externally for the sex, type of NTD and other associated anomalies after obtaining ethicalclearance and written informed consent of the parents.Results: The number of deliveries conducted between 2017-2019 at SGT Medical College Hospital and ResearchInstitute, Gurugram was 2500. There were 8 babies born with NTDs (5 female and 4 male). Overall incidence ofNTDs in the present study was 3.2/1000 births with female preponderance. The incidence of fetuses withanencephaly, myelocele, meningomyelocele, craniorachischisis and encephalocele were 0.8, 1.2, 0.4, 0.4, and0.4 per 1000 births respectively.Conclusion: Birth defects like Neural Tube Defects are easily detected by routine screening tests like USG in firstand second trimester of pregnancy. Public health measures like preconception folic acid supplements andincreasing awareness about maternal care during pregnancy needs to be highlighted to decrease the incidenceof congenital anomalies and their comorbidities.

Rare association of cyclopia with craniospinal rachischisis

Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. The association of anencephaly with spinal rachichisis varies from 17-50%. However, the existence of cyclopia with anencephaly and spinal rachischisis has been reported only in 9 cases till date. We report one more case of cyclopia with anencephaly and spinal rachischisis. Awareness of this spectrum of association with cyclopia, albeit rare, will help in early antenatal diagnosis by fetal ultrasonography. Public education and strict adherence to folic acid supplementation can prevent this unfortunate anomaly.

Fetal anencephaly with umbilical cord attached to cerebrovasculosa area: autopsy report / Anencefalia fetal com cordão umbilical aderido à área cerebrovasculosa: relato da autópsia

ABSTRACT Our aim was to report the unusual case of an anencephalic fetus that was born with the umbilical cord attached to its cephalic pole. The patient was a 16-year-old pregnant woman. Ultrasound evaluation at 17 weeks revealed a single fetus without cranial vault and brain parenchyma, compatible with anencephaly. Postnatal evaluation, through an autopsy, was consistent with this diagnosis. Moreover, it was observed that the umbilical cord was attached to the area cerebrovasculosa and there was the presence of a fibrous tissue, suggestive of an amniotic band. We have found only one similar case described in the literature.

RESUMEN Reportamos el caso poco usual de un feto anencéfalo nacido con el cordón umbilical adherido al area cerebrovasculosa. La embarazada tenía 16 años de edad. La ecografía de la semana 17 de gestación mostró un feto sin bóveda craneal y parénquima cerebral, compatible con anencefalia. La evaluación posnatal, mediante autopsia, estaba de acuerdo a ese diagnóstico. Además, se ha notado que el cordón umbilical estaba adherido al area cerebrovasculosa, puesto que había presencia de tejido fibroso, sugestivo de banda amniótica. Encontramos solo un caso descrito en la literatura.

RESUMO Relatamos um caso incomum de feto com anencefalia nascido com o cordão umbilical aderido à área cerebrovasculosa. A gestante tinha 16 anos de idade. A avaliação pela ultrassonografia, na 17ª semana de gestação, revelou feto sem calota craniana e parênquima cerebral, compatível com anencefalia. A avaliação pós-natal, através da autópsia, foi concordante com esse diagnóstico. Ademais, notou-se que o cordão umbilical estava aderido à área cerebrovasculosa, visto que havia a presença de tecido fibroso, sugestivo de uma banda amniótica. Encontramos apenas um caso semelhante descrito na literatura.

Experiências de mulheres no gestar e parir fetos anencéfalos: as múltiplas faces da violência obstétrica / Experiencias de mujeres en la gestación y parto de fetos con anencefalia: las múltiples faces de la violencia obstétrica / Experiences of women in gestating and giving birth to anencephalic fetuses: the multiple faces of obstetric violence

A anencefalia é uma malformação congênita caracterizada pela ausência total ou parcial do cérebro, resultando em incompatibilidade com a vida extrauterina do feto, não sendo incomum relatos de violências sofridas por mulheres que deram à luz a tais fetos. Os objetivos deste trabalho foram identificar as violências sofridas pelas gestantes de fetos anencéfalos e discutir a violência experienciada por mulheres em gestações e partos de fetos anencéfalos. O método foi composto por Narrativas de Vida, sendo o estudo realizado entre junho e novembro de 2016 em uma maternidade do Rio de Janeiro com 12 mulheres com diagnóstico de feto anencéfalo. Após análise compreensiva e comparativa dos dados, a violência obstétrica surgiu predominantemente na forma de julgamento moral das escolhas das mulheres, má assistência, abusos, utilização de jargões, entre outras. Nessas experiências permeadas por sofrimentos e perdas, a violência obstétrica amplia a situação de vulnerabilidade das mulheres, havendo a necessidade de um debate mais aprofundado.(AU)

La anencefalia es una mala formación congénita caracterizada por la ausencia total o parcial del cerebro, resultando en incompatibilidad con la vida extrauterina del feto, siendo bastante comunes los relatos de violencias sufridas por esas mujeres. Objetivos identificar las violencias sufridas por las gestantes de fetos con anencefalia y discutir la violencia experimentada por mujeres en gestaciones y partos de fetos con anencefalia. Método narrativas de vida, siendo el estudio realizado entre junio y noviembre de 2016 en una maternidad de Río de Janeiro, con 12 mujeres con diagnóstico de fetos con anecefalía. Después de un análisis amplio y comparativo de los datos, la violencia obstétrica surgió predominantemente en la forma de juicio moral de las opciones de las mujeres, mala asistencia, abusos, utilización de jergas y otros. En esas experiencias puntuadas por sufrimientos y pérdidas, la violencia obstétrica amplía la situación de vulnerabilidad de las mujeres, habiendo necesidad de un debate más profundizado.(AU)

Anencephaly - a congenital malformation characterized by total or partial absence of the brain, resulting in incompatibility with the extra uterine life of the fetus and reports of violence suffered by these women are usual. Objectives Identify the violence suffered by pregnant women with anencephalic fetuses and discuss the violence experienced by women in gestations and births of anencephalic fetuses. Method Life Narratives, being the study conducted between June and November of 2016 in a maternity in Rio de Janeiro, with 12 women diagnosed with anencephalic fetus. After a comprehensive and comparative analysis of the data, obstetric violence arose predominantly in the form of moral judgment of women's choices; bad assistance; abuses; use of jargon; among others. In these experiences permeated by suffering and loss, obstetric violence increases the vulnerability of women. There is a need for a more in-depth debate.(AU)

Monochorionic monoamniotic twins discordant for anencephaly: a case report / 中华围产医学杂志

We reported a case of monochorionic monoamniotic twins discordant for anencephaly diagnosed by second-trimester ultrasonography at the First Affiliated Hospital of Fujian Medical University.Ultrasound at seven weeks of gestation showed only one gestational sac with an embryo inside.Another 12 gestational weeks' ultrasound scan performed at another hospital found one gestational sac and one fetus (crown-rump length was 6.11 cm and nuchal translucency was 0.11 cm) in the upper-middle uterine cavity.The ultrasound examination at 22+6 gestational weeks identified one placenta and two fetuses without obvious diaphragm echo in between.Although no structural abnormality was observed in one fetus,frog-like eyes,absence of skull image and brain tissue echo were presented in the other fetus.The patient was transferred to a higher level hospital and was successfully performed radiofrequency ablation for selective reduction at 23+4 weeks of gestation.At 35 weeks,a premature live boy and an anencephalic stillbirth fetus were born vaginally after premature rupture of membranes.The baby boy was healthy at follow-up at four months old.

An Observational Study Of Anencephalous Fetuses Mounted As Museum Specimen

Neural tube defects (NTDs) constitute the most frequently encountered congenital anomalies of the centralnervous system. Neural tube defects result from the defective closure of the neural tube during embryogenesis.Most defects of the brain and spinal cord result from abnormal closure of the neural folds in the third and fifthweeks of development. Anencephaly and Spina bifida are two most common types of neural tube defects.Anencephaly also known as exencephaly results due to failure of the anterior neuropore to close. Spina bifidaresults from defective neural tube closure along some or the entire length of the vertebral column. Antenataldiagnosis of the condition can be made by ultrasonography in later part of pregnancy, since the vault of the skullis absent and estimation of á fetoprotein level of the amniotic fluid. It is advisable to terminate the pregnancywhen anomalous condition is diagnosed. Better knowledge of unexpected foetal loss is the promise for betterparental counselling and for prevention of recurrences. .To prevents NTD, dietary supplements should be providedto low socioeconomic pregnant females. Periconceptional and 1st trimester folic acid supplementation is ofprime importance.

Frequency Of Anencephaly And Its Associated Anomalies

Introduction: Anencephaly accounts for one of the most common birth defects & is associated with a highmortality & morbidity. The objective was to determine frequency of anencephaly and its associated anomalies,risk factors, clinical presentations & assess maternal awareness on folic acid supplementation and its preventiverole in occurrence of anencephaly.Materials and Methods: The study includes 60 anencephalic fetuses (23 males & 37 females) of 20-30 weeks. Thefetuses were examined for external abnormalities & dissected. Measurements of crown heel, crown rump, headcircumference, foot length, & weight were taken. All the major organs were weighed & data recorded. The sampleswere fixed with 10% buffered formaldehyde. The internal anomalies were noted.Results: The number of deliveries was 57429 deliveries. 23(38.4%) were males & 37(61.6%) were females. Thefrequency of anencephaly in 2014 was 15134/9 (0.06%), in 2015 16361/21 (0.13%). Weight of 40% were <500gms,35% were between 500-1000gms & 25% <1000. Maternal age in 83.4% were 21-35 years, in <20 years & >40 yearswere 1.6% & in 36-40 years were 13.4%. Associated anomalies were present in 42 (70%) fetuses. Out of 42fetuses, those who had associated anomalies were 17 (40.4%) males and 25 (59.6%) were females. All the fetuseshad Acrania (100%) & 19 (45.3%) fetuses had spina bifida; there were no anomalies found in reproductivesystem.

Conglomerados espacio-temporales de defectos del tubo neural y niveles maternos de alfafetoproteína en Villa Clara (2011-2015) / Spatial-time clusters of neural tube defects and maternal alpha fetoprotein levels in Villa Clara province (2011-2015)

Introducción: los defectos del tubo neural se asocian a valores séricos elevados de alfafetoproteína. Objetivo: determinar la prevalencia ajustada de los defectos del tubo neural en la provincia de Villa Clara. Métodos: se realizó un estudio descriptivo retrospectivo donde se incluyeron 43 de los casos nacidos vivos o por interrupción electiva de la gestación por esta causa. Los datos sobre el tipo específico de defecto del tubo neural y los valores séricos de alfafetoproteína materna se obtuvieron del Registro Cubano de Malformaciones Congénitas y del Registro Cubano Prenatal de Malformaciones Congénitas del Centro Provincial de Genética Médica de Villa Clara. Resultados: mediante técnicas de estadística espacial se buscaron conglomerados temporales, espaciales o ambos. Se concluyó que la tasa de prevalencia ajustada fue de 5,47 por cada 1000 recién nacidos. Los niveles séricos de alfafetoproteína resultaron de utilidad para el diagnóstico de los defectos del tubo neural abiertos como la anencefalia. Conclusiones: los hallazgos de conglomerados espaciales y temporales, permitieron identificar los municipios que deben ser objeto de intervención, a través de programas destinados a la identificación y control de posibles factores de riesgo ambientales relacionados con estos defectos congénitos(AU)

Introduction: Neural tube defects are associated to high serum alpha fetoprotein values. Objective: To determine the adjusted prevalence rate of the neural tube defects in Villa Clara province. Methods: A retrospective and descriptive study was conducted in 43 of the infants born alive or from elective cessation of pregnancy because of this problem. Data on specific type of the neural tube defect and the maternal serum alpha fetoprotein values were taken from the Cuban Register of Congenital Malformations and from the Cuban Prenatal Congenital Malformations of the provincial center of medical genetics in Villa Clara province. Results: The spatial statistical techniques allowed finding time, spatial or spatial-time clusters. The adjusted prevalence rate was 5.47 per 1000 newborns. The serum alpha fetoprotein levels observed in the study were useful for the diagnosis of the open neural tube defects such as anencephaly. Conclusions: The spatial and time cluster findings allowed determining those municipalities where intervention is necessary through programs for the detection and control of possible environmental factors related to these congenital defects(AU)

Anencefalia: conhecimento e opinião dos médicos ginecologistas-obstetras e pediatras de Goiânia / Anencephaly: knowledge and opinion of gynecologists, obstetricians and pediatricians in Goiânia / La anencefalia: conocimiento y opinión de los ginecólogos, obstetras y pediatras en Goiânia

Objetivando analisar o grau de conhecimento e opinião dos médicos sobre anencefalia, foi realizado estudo transversal com 70 ginecologistas-obstetras e pediatras de dois hospitais de Goiânia. Os entrevistados responderam a questionário com 20 perguntas fechadas, com opções "verdadeiro" ou "falso", abrangendo cinco temas distribuídos em 31 afirmações com respostas em escala tipo Likert. A maioria dos entrevistados afirmou ter assistido a aula sobre anencefalia (70%), e a média de acertos foi de 13,17 questões. As afirmações com mais acertos versavam sobre a gestação do anencéfalo (80%) e que anencefalia não significa morte encefálica (72%). As questões com menor número de acertos abordavam doação de órgãos de anencéfalo nascido vivo (35%) e a legislação que permite a interrupção da gestação perante diagnóstico inequívoco de anencefalia (47,1%). Dos profissionais ouvidos, 30,41% concordaram que o anencéfalo tem vida. Conclui-se que a anencefalia ainda é tema polêmico e necessita ser mais conhecida entre médicos.

In order to analyze the knowledge and opinion of physicians about anencephaly, a cross-sectional study was performed, including 70 obstetrician-gynecologists and pediatricians of two hospitals in Goiania, Brazil. The interviewees answered a survey of 20 true or false closed questions. Their opinions were evaluated through a 5-subject questionnaire, with 31 affirmations with a Likert-type response scale. Most of the interviewees (70%) affirmed to have attended classes on anencephaly. The average of correct answers was 13.17. The assertive questions with the highest percentage of correct answers were on anencephalic pregnancy (80%) and the distinction between anencephaly and brain death (72%). The questions with the lowest number of correct answers were about the donation of anencephalic born alive babies' organs (35%) and about the legislation that permits pregnancy termination when anencephaly had been unequivocally diagnosed (47.1%). Among those heard, 30.41% agreed on the fact that anencephalic babies have life. In conclusion, anencephaly is still a controversial topic and physicians need to acquire more knowledge on the subject.

Con el objetivo de analizar el grado de conocimiento y opinión de los médicos sobre la anencefalia, fué hecho estudio transversal con 70 médicos ginecólogos/obstetras y pediatras de los hospitales de Goiânia, Brasil. Los entrevistados respondieron un cuestionario de 20 preguntas de verdadero o falso, y se evaluaron sus opiniones a través de un cuestionario con cinco preguntas que contenían 31 opciones de respuestas en escala tipo Likert. La mayoría (70%) participó en clases sobre anencefalia. El promedio de respuestas correctas fue del 13. 17 preguntas. Las afirmaciones con mayor número de respuestas correctas se registraron en relación a la gestación del anencéfalo (80%) y sobre que no existe en este caso muerte encefálica (72%). Las preguntas con menores números de respuestas correctas se relacionaron a la donación de órganos del anencéfalo nacido vivo (35%) y sobre la legislación que permite la interrupción de la gestación frente al diagnóstico inequívoco de anencefalia (47,1%). El 30,41% estuvo de acuerdo que el anencéfalo tiene vida. A la conclusión se verfiicó que la anencefalia es aún un tema polémico y necesita un mayor conocimiento entre los médicos.

Secuencia disrrafia-exencefalia-anencefalia asociado a brida amniótica, Síndrome de Klinefelter y polihidramnios / Dysraphia-exencephaly-anencephaly sequence associated with amniotic band, Klinefelter syndrome and polyhydramnios

Los defectos del tubo neural son un grupo heterogéneo y complejo de anomalías del sistema nervioso central que se encuentran entre las anormalidades congénitas humanas más frecuentes, sólo superados por los defectos cardiovasculares, excluyendo las alteraciones cromosómicas. Se caracteriza por ser el resultado final de una anomalía progresiva que se inicia con un disrrafismo del neuroporo rostral por un defecto mesenquimal, seguido de una segunda fase de exposición de hemisferios cerebrales bien diferenciados desarrollado fuera del cráneo embrionario concluyendo con una fase de desintegración. Puede presentarse como evento único o asociado a otras malformaciones. Reportamos tres casos de secuencia disrrafia-exencefalia-anencefalia, uno de ellos en presencia de polihidramnios, otro asociado a síndrome de brida amniótica y otro cuyo estudio cromosómico reporta síndrome de Klinefelter, todos con un resultado común, mal pronóstico perinatal.

Neural tube defects are a complex of central nervous system abnormalities that are among the most common human congenital abnormalities, second only to cardiovascular defects, excluding chromosomal abnormalities and heterogeneous group. It is characterized as the end result of a progressive anomaly that starts with a dysraphism the rostral neuropore by a mesenchymal defect, followed by a second phase exhibit distinct cerebral hemispheres developed beyond the embryonic skull concluding with a phase of disintegration. It can occur as a single event or associated with other malformations. We report three cases of anencephaly -exencephaly-dysraphism sequence, one of them in the presence of polyhydramnios, other associated amniotic band syndrome and other chromosomal study reports Klinefelter syndrome, all with a common result, poor perinatal outcome.

Foetal Ultrasound– A Study of Spina Bifida and Associated Anomalies in Rural Pregnant Women

To study the incidence and various types of associated anomalies and complications on obstetric ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these congenital neuroectodermal anomalies. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. A prospective and retrospective study of spina bifida and its associated anomalies was done on 23,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. A total of 19 cases spina bifida were detected of which 2 cases were pure spina bifida without any complication, 14 cases had hydrocephalus and meningocele or myelomeningocele and 2 cases had meningocele without hydrocephalus. One case had anencephaly with an incidence of 1 per 1,111 cases. History of similar anomaly and intake of iron and folic acid tablets were noted. Ultrasound is an excellent modality for the diagnosis and characterisation of these neuroectodermal anomalies. Its multiplanar imaging property along with real-time image visualization makes it an excellent tool for the diagnosis and characterization of these anomalies.

Comprehensive Study of Neural Tube Defects in 1000 Foetuses with Clinical Spectrum.

Introduction: A variety of malformations are included under the description of Neural tube defects (NTDs). These are abnormalities of the embryonic neuralization process. The congenital malformations of human structure and are of great interest to anatomists, obstetricians, pediatricians and radiologists. NTDs are among the commonest and most severe disorders, affecting 0.5-2 per 1000 established pregnancies, and are second commonest group of birth defects, after congenital heart defects. A valuable contribution of this study, the neural tube defects aimed at clinical methods and refined for the prenatal diagnosis in utero. Materials and Methods: This comprehensive study was undertaken to know the incidence of detail knowledge of neural tube defects in KIMS Narketpally and KAMS & RC Hyderabad, among 1000 births during the period of two years. We found seven fetuses with neural tube defects involving brain and spinal cord. A detailed study was done emphasizing on embryology and genetic and non-genetic concepts. Results & Conclusion: The seven fetuses were stillbirths and aborted babies between 20 to 40 weeks, presented with neural tube defects (0.7%). Five fetuses were females and two fetuses were males. The spinal defects were 0.4%, cranial defects 0.2% and complete neural tube defects is 0.1%. This review article discusses the classification, clinical research and epidemiological understanding of NTDs and correlated with the available literatures.