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Associated anomalies (AKTH omphalocele study)

Associated anomalies (AKTH omphalocele study)

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Major congenital abdominal wall defects (gastroschisis and omphalocele) may account for up to 21% of emergency neonatal interventions in low- and middle-income countries. In many low- and middle-income countries, the reported mortality of these malformations is 30–100%, while in high-income countries, mortality in infants with major abdominal wall...

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... with an omphalocele are believed to have a greater mortality risk than those with gastroschisis, because of their associated anomalies [18,19,33,35]. Table 5 shows the associated overt anomalies seen in patients with omphalocele in AKTH Kano (Sept. 2011-February 2017. ...
Context 2
... with an omphalocele are believed to have a greater mortality risk than those with gastroschisis, because of their associated anomalies [18,19,33,35]. Table 5 shows the associated overt anomalies seen in patients with omphalocele in AKTH Kano (Sept. 2011-February 2017. ...

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Gastroschisis and omphalocele reflect the two most common abdominal wall defects in newborns. First postnatal care consists of defect coverage, avoidance of fluid and heat loss, fluid administration and gastric decompression. Definitive treatment is achieved by defect reduction and abdominal wall closure. Different techniques and timings are used d...

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... Associated anomalies should intentionally be sought for. 16 ...
Article
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Background: Gastroschisis (GS) is a congenital abdominal defect that is usually located on the right side of the umbilical cord, characterized by the discharge of the intraperitoneal tube and other abdominal contents into the amniotic cavity, and ultrasonography reveals that the foetal bowel floats in the amniotic fluid. GS develops in the early embryonic period, and the cause of most gastroschisis cases is unknown. The aim: The aim of this study to show about prevalence, management and outcome of gastroschisis. Methods: By the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) 2020, this study was able to show that it met all of the requirements. This search approach, publications that came out between 2014 and 2024 were taken into account. Several different online reference sources, like Pubmed, SagePub, and Google Scholar were used to do this. It was decided not to take into account review pieces, works that had already been published, or works that were only half done. Result: In the PubMed database, the results of our search get 7 articles, whereas the results of our search on SagePub get 128 articles, on Google Scholar 685 articles. Records remove before screening are 820, so we get 352 articles fos screening. After we screened based on record exclude, we compiled a total of 10 papers. We included five research that met the criteria. Conclusion: Basic management of neonates with gastroschisis entail wrapping the herniated viscera, either with a plastic/cling wrap or a homemade silo from a saline intravenous bag in institutions where preformed silo bags are not freely available. If the neonate is haemodynamically stable, not in respiratory distress and presents early to the facility, the reduction of herniated viscera and primary fascial closure would be attempted.
... Omphaloceles are a midline anterior body wall defects which are covered by a membrane (peritoneum, Wharton's jelly and amnion) 1 . The incidence is estimated at 1-3.38 in 10.000 live births 2,3 and it can be associated with various congenital anomalies, e.g. ...
... The most frequent cardiac abnormalities associated with omphalocele are septal defects, tetralogy of Fallot, tricuspid atresia, or ectopia cordis [16]. Prenatal ultrasound diagnosis of an omphalocele without liver is certain after 12 weeks of gestational age, but extra-abdominal liver tissue could be observed transvaginally at 9-10 weeks of amenorrhea, while an elevated maternal serum alpha-fetoprotein level may also be detected [17]. ...
Article
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Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of the literature, the importance and frequency of association between the two malformations and what impact this association has on the management and evolution of patients with these pathologies. We reviewed the titles, the available abstracts, and the full texts of 244 papers from the last 23 years, from three medical databases, to extract data for our review. Due to the frequent association of the two malformations and the unfavorable effect of the major cardiac anomaly on the prognosis of the newborn, the electrocardiogram and echocardiography must be included in the first postnatal investigations. The timing of surgery for abdominal wall defect closure is mostly dictated by the cardiac defect severity, and usually the cardiac defect takes priority. After the cardiac defect is medically stabilized or surgically repaired, the omphalocele reduction and closure of the abdominal defect are performed in a more controlled setting, with improved outcomes. Compared to omphalocele patients without cardiac defects, children with this association are more likely to experience prolonged hospitalizations, neurologic, and cognitive impairments. Major cardiac abnormalities such as structural defects that require surgical treatment or result in developmental delay will significantly increase the death rate of patients with omphalocele. In conclusion, the prenatal diagnosis of omphalocele and early detection of other associated structural or chromosomal anomalies are of overwhelming importance, contributing to the establishment of antenatal and postnatal prognosis.
... La mortalidad perinatal es de un 30% aproximadamente, el cual puede incrementar si se asocia con otros defectos congénitos (Ortegón et al., 2020), en países de medianos y bajos ingresos la mortalidad oscila entre un 30 a 100%, mientras que los de altos ingresos es menor a 5% (Anyanwu et al., 2020), aunque también depende de varios factores como la edad de la madre, la edad gestacional, asociación con otras anomalías cromosómicas, Mientras que la gastrosquisis se caracteriza por el cierre anómalo de la pared abdominal alrededor del pedículo de fijación, este defecto es una protuberancia de las vísceras a través de la pared abdominal directamente dentro de la cavidad amniótica, recubiertas por peritoneo visceral. El sitio del defecto suele ser paraumbilical comúnmente a la derecha, la etiopatogenia refiere una disrupción vascular a nivel de la arteria onfalomesentérica derecha y de la vena umbilical derecha que en la embriogénesis involucionan, por lo tanto, este defecto ocurre cuando se altera la cronología y el desarrollo de la involución como consecuencia de una isquemia de la pared, se asocia a edad materna baja, exposición a drogas, tabaco y alcohol. ...
Article
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Introducción: El onfalocele es una alteración embriológica de la pared abdominal, en la cual hay falla del retorno completo de las vísceras. Presentación del caso: Se reporta el caso de paciente con embarazo de 32 semanas de gestación quien acude a control prenatal, se realiza ecografía encontrando imágenes sugestivas de gastrosquisis, por lo que es referida al tercer nivel de atención, luego de otra valoración se evidencia herniación central con la inserción del cordón umbilical en su ápice, cubierta por una membrana de peritoneo y asas intestinales en su interior compatible con onfalocele, finalmente confirmado al nacer. Conclusiones: La importancia del diagnóstico prenatal radica en detectar de forma oportuna diversas patologías y de esta manera tomar una conducta terapéutica adecuada.
... An omphalocele is an abdominal wall defect which is congenital. 1 During the 6 th week of intrauterine life there is physiological herniation of the intestine into the umbilical cord which gets reduced by the 12 th week after 270-degree counter clockwise rotation. Omphalocele occurs when there is a defect in abdominal wall closure. ...
... 4 It can be classified into two types based on the size of fascial defect: omphalocele minor (defect size <5 cm) and omphalocele major (O) (defect size ≥5 cm). 1 Both surgical and non-operative delayed closure methods to manage major omphaloceles have been reported. Surgical methods include primary closure and staged closure while non-operative delayed closure approach comprises of application of topical medications to promote neo-epithelialization and later on interval repair of remaining ventral hernia. ...
Article
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Omphalocele major (OM) is a surgically challenging condition which owing to its large defect size and other congenital anomalies, is associated with poor outcomes. Complications while managing it are not uncommon. But here, we report a case of OM in a neonate who was successfully managed in a multidisciplinary approach by a team of neonatologist, surgeons and anesthetist.
... Some specific care needs to be followed, such as the passage of nasogastric tube, volume replacement, hydration of the exteriorized contents with moist gauze with warm saline solution, maintenance of the newborn in a warm environment and breastfeeding in a right lateral position to avoid twisting of the mesenteric vessels. 54 Despite advances, both in surgical techniques and neonatal care, it is not yet established what the best therapeutic approach for neonates with gastroschisis. There are three main techniques to make the closure: primary fascial suture after reduction of the viscera; staggered correction with the use of silo; umbilical turban technique or plastic closure. ...
Book
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Proper notification is the first step towards the organization of national surveillance of congenital anomalies. By strengthening our existing system, we will be able to evaluate the real impact of anomalies on populations, in addition to producing useful information to promote prevention and care measures adjusted to the reality of each part of the world. For this, it is essential that professionals and institutions recognize the importance of congenital anomalies in the context of public health and register all those diagnosed at birth in official information systems.
... El contenido herniado está cubierto por una membrana formada por peritoneo en el interior, amnios en el exterior y gelatina de Wharton entre esas dos capas. (1,2) El cordón umbilical se inserta entonces en la membrana en lugar de la pared abdominal y el ONF es ocasionado por una falla en el cierre de la región mesodérmica lateral que impide el plegamiento central. (3) Aparece con el código Q79.2 en la 10ma revisión de la Clasificación Internacional de Enfermedades (ICD-10, por sus siglas en inglés). ...
... (3) La mortalidad por este DC en los países con medianos y bajos ingresos está entre un 30 y un 100%, mientras que en países con altos ingresos la mortalidad por DPA es menor de un 5%. (2) En el año 2010 la Asamblea Mundial de la Salud adoptó una resolución especial sobre los DC en la que se insta a los estados miembros a intensificar las investigaciones relacionadas con los principales DC. (7,8) Los DPA constituyeron la segunda causa de muerte neonatal en la Región de las Américas entre los años 2000 y 2016, solamente superados por los DC cardiovasculares. (8) En la Provincia de Villa Clara, entre los años 2013 y 2018, se identificaron varios conglomerados espacio temporales primarios y secundarios de varios DC, entre los que se incluyó la gastrosquisis como un DPA sensible a la deficiencia de ácido fólico; (9) sin embargo, en esta provincia no existen evidencias de que se haya realizado alguna investigación que incluya el análisis de los casos con ONF, por lo que la presente investigación se planteó como objetivos determinar la prevalencia ajustada de ONF en la provincia entre los años 2010 y 2019 y describir la efectividad de los métodos de diagnóstico prenatal (DPN), las aberraciones cromosómicas y los defectos congénitos que con mayor frecuencia se asociaron al ONF. ...
... La tasa de prevalencia ajustada de ONF observada en la Provincia de Villa Clara entre los años 2010 y 2019 es superior a la descrita en la literatura, en la que se plantea que la prevalencia de este defecto de pared anterior es entre uno y dos en 10 000 nacidos vivos (NV); (2,11,12,13,14) no obstante, se reconoce que la incidencia puede ser mayor (de uno a tres en 10 000 nacimientos) cuando se tienen en cuenta las terminaciones electivas del embarazo y las pérdidas fetales. (3,14) La tasa de prevalencia de ONF identificada en la Provincia de Villa Clara en el presente estudio resultó inferior a la observada por Grover y colaboradores (12) en una serie de 22 años en dos regiones de Inglaterra (5,5 por 10 000 nacimientos); sin embargo, la frecuencia de este DC (1:2 900 NV) en esta central provincia duplicó la descrita por Raymond (15) (uno en 5 000-6 000 RN) en un estudio multicéntrico realizado en los Estados Unidos de América y resultó cinco veces superior a la identificada en Costa Rica (0,67 por 10 000 nacimientos) en el análisis de los datos del Sistema nacional de vigilancia de DC. (1) El mayor número de casos con ONF en Villa Clara se diagnosticó mediante el US fetal, sobre todo el realizado en el primer trimestre de la gestación, hallazgo que concuerda con lo observado por Chukwuemeka, (2) que refiere que la mayoría de los casos con ONF son diagnosticados prenatalmente mediante el US a finales del primer trimestre o en etapas tempranas del segundo trimestre, con elevadas tasas de terminación del embarazo o muertes fetales (mortinatos). ...
Article
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Introducción: el onfalocele es uno de los defectos de la pared abdominal anterior más frecuentes. Objetivos: determinar la tasa de prevalencia ajustada y describir la efectividad de los métodos de diagnóstico prenatal, las aberraciones cromosómicas y los defectos congénitos más frecuentemente asociados al onfalocele. Métodos: se realizó un estudio observacional descriptivo de tipo retrospectivo en la Provincia de Villa Clara entre enero de 2010 y diciembre de 2019. Los datos fueron obtenidos de los Registros cubanos de malformaciones congénitas. El universo quedó constituido por los 26 casos diagnosticados pre o postnatalmente con onfalocele. La población de referencia fueron los 75 397 recién nacidos vivos y los 448 nacidos muertos durante el período. Resultados: la tasa de prevalencia ajustada fue de 3,4 por 10 000 nacimientos. Se diagnosticaron prenatalmente el 96% de los casos, la sensibilidad de la determinación sérica materna de alfa fetoproteína fue de 13,8%, mientras que el ultrasonido prenatal tuvo una sensibilidad de un 96%. En 12 de los 26 casos con onfalocele (46%) se constató algún otro defecto congénito mayor asociado, los que con mayor frecuencia se identificaron fueron los musculoesqueléticos (31,8%) y los cardiovasculares (22,7%). Conclusiones: la prevalencia ajustada observada fue discretamente superior a la informada en la literatura, lo que pudiera deberse a la inclusión de todos los casos producto de las interrupciones de la gestación. El ultrasonido constituyó el método más efectivo de diagnóstico prenatal. Los defectos musculoesqueléticos y cardiovasculares fueron los más frecuentemente asociados, sobre todo en los casos con aneuploidías cromosómicas.
... Gastroschisis refers to a congenital anomaly where is there is an abdominal wall defect leading to bowel evisceration [1]. Its prevalence has been steadily increasing recently over the past few decades [2]. ...
... However, there is a universally poor outcome in LMIC [5,6]. Lack of trained staff and resources such as preformed silos, ICU facilities, and parenteral nutrition are thought to be additional contributors for increased mortality in these settings [1,3,7]. ...
... Different centers in Africa have managed to improve outcome by implementing quality improvement interventions. Some of these have focused on pre-hospital and medical management while others were on the operative approach [1,3,8]. The most successful study came from Nigeria where surgeons performed an extended right hemicolectomy in 12 neonates in order to achieve primary abdominal wall closure [9]. ...
Article
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Background The outcome of gastroschisis largely depends on place of birth. Prognosis is excellent with >95% survival in high income countries (HIC) while mortality remains high in low-income and middle-income countries (LMIC). Gastroschisis has nearly 100% mortality rate in our country, which has made it the most frustrating condition for pediatric surgeons. Case presentation Recently we attempted a different approach for gastroschisis in order to improve the outcome. This entailed creating an ileostomy on the abdominal wall defect. In this paper we describe the first two neonates managed with this method in Ethiopia. The first case was a girl that presented on the 6th hour of life and the second was a boy that arrived to our hospital on the 24th hour of life. The results were encouraging as both of the children survived. This is a new treatment strategy which has not been previously reported. Conclusion Ileostomy can aid primary closure of gastroschisis with minimal bowel resection. It also promotes early bowel function and initiation of feeding which is the most important factor for survival in these neonates. We believe this is the best management option for gastroschisis in LMIC.
... In many low and middle-income countries, the reported mortality of these malformations is 30-100%, while in high-income countries; mortality in infants with AWD reaches less than 5% [33]. ...
... Most cases of OM result in high rates of TOP and/or fetal loss. Because of the OM association with chromosomal aberrations and other severe CD potentially leading to TOP, over 85% of those with a chromosomal aberration were terminated in a study of birth prevalence and survival in England and Wales [33,35]. ...
... than 50% risk of having an associated anomaly, and about 50% of these have a chromosomal aberration such as trisomy 13, 14, 15, 18 and 21[33].Among all abnormal karyotypes in our study we didn't find any Down syndrome (trisomy 21) or Turner syndrome (monosomy X) among the OM cases. However, when twenty-six consecutive fetuses with a sonographically detectable OM and known karyotype were reviewed by Nyberg in the Swedish Medical Center, Seattle, Washington, USA; chromosomal abnormalities were found in 10 cases (38%) from trisomy 18 (n = 4), trisomy 13 (n = 4), trisomy 21 (n = 1), or monosomy X (n = 1)[32]. ...
... In addition, clinical infectious disease professionals do not approve of the sterilisation technique used for these types of devices in South Africa. [8,9] ...
Article
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Silo bags are synthetic, flexible silicone bags used to cover and protect the bowel of neonates born with gastroschisis. They are transparent, which enables clinicians to visualise bowel colour and allows for gentle reduction until closure. Silo bags are expensive, and different sizes are needed depending on the gastroschisis size. Currently, tertiary hospitals in low-income countries experience great difficulty in purchasing these bags. Therefore, in this article, we present a method for creating a preformed silo bag by utilising readily available disposable equipment in secondary or tertiary hospitals. The disposable equipment required includes a 200- or 500-ml saline or blood bag, 16- or 18-Fr silicone/latex Foley catheter, Opsite® and 2-0 silk suture. The saline bag is cut and opened transversely. The Foley catheter is cut corresponding to the diameter of the saline bag opening, and both ends of the catheter piece are connected to each other to create a 'circle', which is used as the base for the opening. The edge of the saline bag is turned inside out around the catheter and then securely closed with a continuous suture, which fixes the folded part of the bag to the catheter. These silo bags are cheap and easily and quickly prepared at any centre in Africa and very similar to manufactured silo bags, which are comparatively costly and difficult to procure in limited-resource environments.