Congenital diaphragmatic hernia: relationship between defect size and outcome. Experience in a reference centre.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) remains a therapeutic challenge. The surgical classification recommended by the Congenital Diaphragmatic Hernia study group (CDHSG), based on the size of the defect, is used for staging in reference centres. Larger defects are associated with poorer outcomes. Our aim was to describe and compare the morbidity at hospital discharge of newborns who underwent surgical correction of CDH at the Juan P. Garrahan, according to the surgical staging of the defect proposed by the CDHSG. MATERIAL AND METHODS: The study included patients with CDH admitted to the Juan P. Garrahan Hospital between 2012 and 2020, and we analysed the distribution, morbidity and mortality associated with the size of the defect. We carried out a descriptive analysis, calculating measures of central tendency and dispersion, and bivariate and multivariate analyses. RESULTS: A total of 230 patients with CDH were admitted and 158 underwent surgery. We found that defect sizes C and D sizes were associated with an increased risk of chronic pulmonary disease (CPD) (OR, 5.3; 95% CI, 2.2-13.4; P<.0000), need of extracorporeal membrane oxygenation (OR 3.9; 95% CI, 1.3-12.8; P<.005) and chylothorax (OR, 2.1; 95% CI, 0.8-6.4; P<.10]. The multivariate analysis revealed that a large defect size (C-D) was independently and significantly associated with CPD (OR 4.19; 95% CI, 1.76-9.95). CONCLUSION: Staging the defect according to de CDHSG classification during surgery allows the application of uniform management criteria and the prediction of patient outcomes and complications during the hospital stay.

Fisiopatología de la hernia diafragmática congénita en el recién nacido / Pathophysiology of congenital diaphramatic hernia in the newborn

La hernia diafragmática congénita es una discontinuidad del diafragma con herniación de los órganos abdominales a la cavidad torácica, actualmente se postula una hipótesis dual para su origen. Su fisiopatología está determinada por la hipoplasia pulmonar, la hipertensión pulmonar y la disfunción ventricular, entender estos elementos es necesario para un adecuado manejo y la mejoría del pronóstico.

Congenital diaphragmatic hernia is a discontinuity of the diaphragm with herniation of the abdominal organs into the thoracic cavity, currently a dual hypothesis for its origin is postulated. Its pathophysiology is determined by pulmonary hypoplasia, pulmonary hypertension and ventricular dysfunction, understanding these elements is necessary for adequate management and improve prognosis.

Hernia diafragmática congénita de presentación tardía Reporte de caso con revisión de literatura / Late Presentation Congenital Diaphragmatic Hernia: Case Report with Literature Review

Resumen Una hernia diafragmática congénita ocurre cuando existe un defecto estructural en el diafragma que permite la migración de los órganos abdominales a la cavidad torácica. Se considera de presentación tardía cuando se diagnostica después de los 30 días de vida extrauterina. Más del 60% de los pacientes con hernia diafragmática congénita cuentan con un diagnóstico erróneo al momento del nacimiento, encontrándose dentro de los diagnósticos más frecuentes al derrame pleural, neumonía, neumotórax, neumatocele y absceso pulmonar. Presentamos el caso de una paciente del sexo femenino de 3 años que acudió a urgencias por dolor abdominal, náuseas, vómito, intolerancia a la vía oral y dificultad respiratoria. La radiografía de tórax evidenció migración de la cámara gástrica hacia el tórax, dessplazamiento de la silueta cardiaca y las estructuras del mediastino hacia la derecha con la punta de la sonda nasogástrica ubicada en el hemitórax izquierdo. Se concluyó el diagnóstico de hernia diafragmática de presentación tardía. La paciente recibió tratamiento quirúrgico, el cual fue exitoso. Este trabajo destaca la importancia de sospechar el diagnóstico de hernia diafragmática congénita de presentación tardía cuando se abordan pacientes pediátricos con dificultad respiratoria sin otra causa aparente, dolor abdominal, náuseas y vómito.

Abstract A congenital diaphragmatic hernia occurs when the diaphragm has a structural defect that allows the migration of abdominal organs into the chest cavity. It is called late presentation when its diagnosis does after 30 days of life. More than 60% of patients with congenital diaphragmatic hernia are misdiagnosed. The most common misdiagnoses are pleural effusion, pneumonia, pneumothorax, pneuma tocele, and lung abscess. We present a case of a 3-year-old female who attended the emergency room due to abdominal pain, nausea, vomiting, intolerance to the oral route, and respiratory distress. The chest X-ray showed migration of the gastric chamber towards the thorax, displacement of the cardiac silhouette and the mediastinal structures to the right, and the tip of the nasogastric tube located in the left hemithorax. The doctors concluded a late presentation diaphragmatic hernia. The patient received surgical treatment, which was successful. This paper highlights the importance of suspecting the diagnosis of late-onset congenital diaphragmatic hernia when treating pediatric patients with respiratory distress without another apparent cause, abdominal pain, nausea, and vomiting.

Hérnia diafragmática peritôniopericárdica congênita em uma gata / Congenital peritoniopericardial diaphragmatic hernia in a female kitten

Background: Peritoneopericardial diaphragmatic hernia is a rare pathogenesis of congenital origin, which occurs due to a failure in the communication between the diaphragm and the pericardium during embryogenesis. Symptoms may be non-existent or non-specific, depending on the herniated organ involved and, in most cases, the diagnosis is incidental. Regarding the most indicated treatment, there are still divergences in the literature concerning the indication of conservative or surgical treatment. This study reports the case of a feline peritoneopericardial hernia, for which surgical correction was the treatment of choice. Case: A 3-month-old female kitten, no defined racial pattern, was referred to the Veterinary Hospital of the Federal Rural University of Pernambuco for treatment of a peritoneopericardial diaphragmatic hernia. This condition was diagnosed through radiographic examination after the patient having been submitted to pediatric castration and presented anesthetic complications in the transsurgery. Blood count, biochemical profile and Doppler echocardiogram were performed, which showed no significant changes. To obtain a better study and surgical planning, computed tomography was performed to observe the heart located cranially in the pericardial cavity. Caudally to the heart, hepatic parenchyma located in the pericardial cavity was observed; and hepatic vessels presenting slightly enlarged dimensions. These tomographic findings suggested peritoneopericardial diaphragmatic hernia; being the liver present in the pericardial cavity and signs of congestion in the hepatic parenchyma. Due to the likelihood of future worsening of the hernia, surgical correction was performed, with an abdominal midline incision in the preumbilical region to reposition the liver to its normal anatomy, followed by diaphragm reconstitution through a herniorrhaphy. After the surgical procedure, the patient was referred for observation in internment and, after 15 days, the skin sutures were removed. Complete correction of the hernial defect was observed on radiography performed 30 days after the surgical procedure. However, the examination showed the presence of deviation/ deformity in the topography of the sternum and costal cartilages, with slight cardiac displacement to the right hemithorax, suggesting the presence of pectus excavatum. Discussion: Peritoneopericardial diaphragmatic hernia is considered rare and, despite being one of the most common causes of congenital pericardial anomaly in felines, it has a low prevalence ranging from 0.06% to 1.45%. They are usually diagnosed from two years of age, with prevalence for older animals. However, due to having presented anesthetic changes, the patient of this case report could be diagnosed early. Among the most common organs that migrate to the thoracic cavity, the liver is the most commonly observed, which is also the hernia content of the present report. Peritoneopericardial hernia is often diagnosed through radiography and ultrasound, and these imaging tests proved to be sufficient for the diagnosis in this report. However, computed tomography was important for providing a better study of case and for the adoption of median celiotomy as a treatment. Associations with other malformations are described in the literature, with pectus excavatum being the most common and also observed in this report. Peritoneopericardial diaphragmatic hernia is a rare anomaly, rarely reported in the literature and with divergences regarding its treatment. The adoption of early surgical treatment performed in this report showed satisfactory evolution and the possibility of a favorable prognosis.

Hérnia diafragmática peritoneopericárdica em um felino da raça Persa / Peritoneopericardial diaphragmatic hernia in a Persian cat

Background: Peritoneopericardial diaphragmatic hernia is a congenital defect characterized by an anomalous communication between the abdominal cavity and pericardial sac, which can lead to displacement of the abdominal viscera into the thoracic cavity. The occurrence in felines is higher among long-haired breeds, mainly the Persian breed, possibly based onan autosomal recessive inheritance. The diagnosis of PPDH is performed by means of chest radiography with or without contrast, in association with other imaging tests such as ultrasonography and echocardiography. Our objective in this study was to report the occurrence and macroscopic changes in a case of peritoneopericardial diaphragmatic hernia in a Persian feline. Case: A 9-year-old male Persian cat weighing 3.4 kg was referred to the HPET-Private Veterinary Clinic, Salvador, Bahia, with an history of weight loss and chronic intermittent vomiting during the preceding 6 months, with lateral decubitus and breathing difficulties. Ultrasonography revealed findings suggestive of an infiltrative process in the stomach and duodenum, enlarged gastric lymph nodes, and some nodular images indicating slight displacement of the liver. Chest radiography revealed a cardiac silhouette with markedly enlarged dimensions associated with a dorsal deviation of the terminal trachea, and echocardiography revealed a small amount of pericardial effusion. The patient showed initial clinical improvement after blood transfusion; however, after 2 days, he exhibited significant clinical worsening and was therefore euthanized with the owner's consent. Post mortem evaluation revealed partial herniation of the liver and gallbladder into the chest cavity through a diaphragmatic hernia ring. The heart was partially surrounded by the left medial lobe of the liver, which was displaced into the pericardial sac. Herniated hepatic lobes had an irregular capsular surface with evident lobulation and tension lipidosis. In the abdominal cavity, the remainder of the liver (right lateral and medial lobes) was observed to be slightly enlarged, with an irregular surface, diffusely reddish with intense evidence of the lobular pattern and white and firm multifocal areas (fibrosis). In the duodenum, close to the pylorus, there was a nodule measuring 2.8 x 2.5 x 1.0 cm, with a whitish and ulcerated surface. When cut, it was soft and exhibited a homogeneous, whitish compact surface. Histopathological examinationshowed marked proliferation of fibrous connective tissue, which for the most part separated the lobes by septa and surrounded the portal space (fibrosis), a marked diffuse chronic inflammatory infiltrate composed of lymphocytes and plasma cells. In addition, marked bile duct hyperplasia and multifocal areas of fatty degeneration (steatosis). Discussion: The diagnosis was based on the association of clinical and pathological findings. Considering the age and clinical signs presented by the patient in this report, as well as the presence of few radiographic signs that were indicative of PPDH, the first differential diagnosis thought was pericardial neoplasia. Peritoneopericardial diaphragmatic hernia in felines is always of congenital origin and may occur asymptomatically depending on the number and involvement of herniated viscera. In this case, the patient's diagnosis of peritoneopericardial hernia was a necropsy finding; the fact that in agreement with previous reports of high rates of incidental diagnoses reinforces the importance of performing necropsy for confirmation or diagnosis of unexpected pathologies. In the present case, peritoneopericardial diaphragmatic hernia in isolation may not have led to severe anemia that culminated in the patient's death. The anatomopathological findings were compatible with biliary cirrhosis and multifocal liver fibrosis, accompanied by the presence of anemia and consequent hypovolemia.

Comparación de recidiva posterior a hernioplastía diafragmática con cierre directo versus colocación de parche / Comparison of recurrence after diaphragmatic hernioplasties with direct closure versus patch placement

Resumen Objetivo: Investigar con cuál técnica quirúrgica, cierre directo o con parche de Goretex, las hernias diafragmáticas congénitas operadas tienen más recidiva. Metodología: Los datos de los pacientes sometidos a reparación por hernia diafragmática congénita en el Hospital Nacional de Niños, entre enero 2008 y el 31 diciembre de 2017, fueron revisados retrospectivamente. De los 94 pacientes, solo 59 cumplen con los criterios de inclusión. Para la comparación de las variables cuantitativas se empleó pruebas de T de Student e intervalos de confianza al 95 %; las variables cualitativas se analizaron por la prueba de Fisher con un nivel de significancia de 0,05. Resultados: La mayoría de las hernias diafragmáticas operadas fueron izquierdas (78 %) y posterolaterales (91 %). La técnica de reparación más frecuente utilizada fue el cierre directo (68%). Hubo más recidivas posteriores a cierre con parche de Goretex. Se presentaron entre 1 y 12 meses postoperatorio. No hubo diferencia estadísticamente significativa entre recidivas con técnica de cierre directo versus cierre con parche de Goretex. Conclusión: Realizar un cierre directo del diafragma es una buena opción quirúrgica para reparación de hernia diafragmática congénita. No hubo en este estudio diferencias estadísticamente significativas en cuanto a recidiva entre utilizar técnica con cierre directo o con parche.

Abstract Objective: To investigate with which surgical technique, direct closure or use of a Goretex patch, congenital diaphragmatic hernias recurre more. Methodology: The data of the patients who underwent repair of congenital diaphragmatic hernia at the National Children's Hospital from January 2008 to December 31, 2017, were reviewed retrospectively. Of the 94 patients, only 59 met the inclusion criteria. For the comparison of the quantitative variables, Student's t-test and 95% confidence intervals were used, the qualitative variables were analyzed by the Fisher's test with a significance level of 0.05. Results: Most of the operated diaphragmatic hernias were left 78% and posterolateral 91%. The most frequent repair technique used was direct closure, 68%. There were more recurrences after closing when a Goretex patch was used. They occurred between 1 and 12 months post-operatively. There was no statistically significant difference between recurrences with the direct closure technique versus closure with the Goretexpatch. Conclusion: Performing a direct closure of the diaphragm is a good surgical option for surgical repair of congenital diaphragmatic hernias. There were no statistically significant differences in relapse in this study between using the direct closure or patch technique.

Factores de riesgo asociados a mortalidad en recién nacidos con hernia diafragmática congénita / Risk factors associated with mortality in newborn infants with congenital diaphragmatic hernia

Introducción. La hernia diafragmática congénita presenta alta morbimortalidad. Existen herramientas para predecir sobrevida, tanto prenatal (índice pulmón-cabeza observado/esperado ­observed/expected lung-to-head ratio; OE-LHR, por sus siglas en inglés­, presencia de hígado en tórax) como posnatal (puntaje del Grupo de Estudio sobre Hernia Diafragmática Congénita, Congenital Diaphragmatic Hernia Study Group, CDHSG). El objetivo fue identificar factores de riesgo asociados a mortalidad y estimar la mortalidad ajustada por riesgo prenatal en el subgrupo de pacientes con hernia izquierda aislada.Población y métodos. Estudio retrospectivo y analítico de pacientes nacidos en el Hospital Italiano de Buenos Aires durante 2011-2018. Se realizó un análisis multivariable para evaluar factores de riesgo asociados a mortalidad. Para la mortalidad ajustada por riesgo prenatal, se realizó una razón entre la mortalidad observada y la media "esperada" según el OE-LHR.Resultados. Se incluyeron 53 pacientes. La mediana de edad gestacional fue 38 semanas, y la media de peso al nacer, 3054 gramos. El 73 % de los pacientes tuvo hernia aislada. La mortalidad global fue del 45 %, mayor en pacientes con malformaciones asociadas. En el análisis multivariable, la presencia de hipertensión pulmonar grave estimada por ecocardiografía postnatal se asoció en forma independiente a mortalidad: (odds ratio ajustado 6,4; IC 95 %: 1,02-40). La mortalidad global observada en pacientes con hernia izquierda aislada fue similar a la esperada (razón 1,05).Conclusión. La mortalidad global es similar a la esperada según el OE-LHR. En nuestra población, la hipertensión pulmonar grave luego del nacimiento resultó determinante de la mortalidad.

Introduction. Morbidity and mortality are high in congenital diaphragmatic hernia. Some tools help to predict survival, both prenatally (observed/expected lung-to-head ratio [OE-LHR], presence of the liver in the chest) and postnatally (Congenital Diaphragmatic Hernia Study Group [CDHSG] score). Our objective was to identify the risk factors associated with mortality and estimate the risk-adjusted mortality in the prenatal period in the subgroup of patients with isolated left-sided hernia.Population and methods. Retrospective and analytical study of patients born at Hospital Italiano de Buenos Aires between 2011 and 2018. A multivariate analysis was done to assess mortality-associated risk factors. For risk-adjusted mortality in the prenatal period, the ratio between the observed mortality and the mean "expected" mortality based on the OE-LHR was estimated.Results. A total of 53 patients were included. Their median gestational age was 38 weeks, and their mean birth weight was 3054 g. Isolated hernia was observed in 73 % of patients. Overall mortality was 45 %, and higher in patients with associated malformations. In the multivariate analysis, the presence of severe pulmonary hypertension estimated by postnatal echocardiogram was independently associated with mortality (adjusted odds ratio: 6.4, 95 % confidence interval: 1.02-40). The observed overall mortality in patients with isolated left-sided hernia was similar to that expected (ratio: 1.05).Conclusion. Overall mortality was similar to that expected based on the OE-LHR. In our population, severe pulmonary hypertension after birth was a determining factor of mortality

Hernia diafragmática congénita recurrente asociada a malrotación intestinal / Recurrent congenital diaphragmatic hernia associated with intestinal malrotation

RESUMEN La recurrencia de las hernias diafragmáticas congénitas, luego de reparadas quirúrgicamente, es de baja frecuencia. Se presenta el caso de un paciente masculino de 22 años con hernia diafragmática congénita reparada inicialmente al segundo día de vida, el cual presenta disnea grado 1 y enfermedad por reflujo gastroesofágico. Se evidencia por medio de imagen una hernia diafragmática izquierda, el saco herniario con contenido de bazo, colon, cola de páncreas y glándula suprarrenal izquierda. Se aborda de manera abdominal mediante incisión subcostal izquierda, se reduce el saco herniario, se coloca malla tipo en el defecto diafragmático y se realiza procedimiento de Ladd por la presencia de malrotación intestinal.

ABSTRACT Recurrence of congenital diaphragmatic hernia, after surgical repair, is infrequent. Here, we report the case of a 22-year-old male patient with a history of congenital diaphragmatic disease initally treated with surgery on the second day of life who presented class I dyspnea and gastroesophageal reflux. A left diaphragmatic hernia with a hernia sac containing the spleen, colon, tail of pancreas and left adrenal gland. The patient underwent surgical repair via a left subcostal incision; the hernia sac was reduced, the diaphragmatic defect was repaired with a mesh and the Ladd procedure was performed due to the diagnosis of intestinal malrotation.

Diagnosis and treatment of a peritoneopericardial hernia in an adult dog: a case report / Diagnóstico e tratamento de hérnia peritoniopericárdica em cão adulto: relato de caso

Peritoneopericardial diaphragmatic hernia is a common congenital pericardial anomaly in dogs and cats, characterized by a communication between the abdomen and the pericardial sac. Animals may be asymptomatic or show nonspecific clinical signs related to the gastrointestinal and cardiorespiratory systems. In this report, we present a case of a 3-year-old female Schnauzer, weighing 7,7 kg, with a history of easy fatigue and cyanosis triggered by stress. The diagnosis of peritoneopericardial diaphragmatic hernia was confirmed through echocardiography and simple and contrast radiography findings that showed the presence of hepatic lobes in the pericardial sac. The animal underwent supra-umbilical celiotomy to correct the hernia and subsequently presented immediate improvement of clinical signs.(AU)

A hérnia diafragmática peritoniopericárdica é uma anomalia congênita pericárdica comum em cães e gatos, sendo caracterizada pela comunicação entre abdômen e saco pericárdico. Os animais podem ser assintomáticos ou apresentar sinais clínicos inespecíficos relacionados aos sistemas gastrointestinal e cardiorrespiratório. Expõe-se um caso de um cão Schnauzer, fêmea, 3 anos de idade, pesando 7,7 kg, com histórico de cansaço fácil e cianose em momentos de estresse. O diagnóstico de hérnia peritoniopericárdica foi confirmado por meio de ecocardiografia e exame radiográfico simples e contrastado que evidenciaram a presença de lobos hepáticos no saco pericárdico. O animal foi submetido a celiotomia pré-umbilical para correção do defeito, apresentando melhora imediata dos sinais clínicos após a correção cirúrgica.(AU)

Diagnosis and treatment of a peritoneopericardial hernia in an adult dog: a case report / Diagnóstico e tratamento de hérnia peritoniopericárdica em cão adulto: relato de caso

Peritoneopericardial diaphragmatic hernia is a common congenital pericardial anomaly in dogs and cats, characterized by a communication between the abdomen and the pericardial sac. Animals may be asymptomatic or show nonspecific clinical signs related to the gastrointestinal and cardiorespiratory systems. In this report, we present a case of a 3-year-old female Schnauzer, weighing 7,7 kg, with a history of easy fatigue and cyanosis triggered by stress. The diagnosis of peritoneopericardial diaphragmatic hernia was confirmed through echocardiography and simple and contrast radiography findings that showed the presence of hepatic lobes in the pericardial sac. The animal underwent supra-umbilical celiotomy to correct the hernia and subsequently presented immediate improvement of clinical signs.

A hérnia diafragmática peritoniopericárdica é uma anomalia congênita pericárdica comum em cães e gatos, sendo caracterizada pela comunicação entre abdômen e saco pericárdico. Os animais podem ser assintomáticos ou apresentar sinais clínicos inespecíficos relacionados aos sistemas gastrointestinal e cardiorrespiratório. Expõe-se um caso de um cão Schnauzer, fêmea, 3 anos de idade, pesando 7,7 kg, com histórico de cansaço fácil e cianose em momentos de estresse. O diagnóstico de hérnia peritoniopericárdica foi confirmado por meio de ecocardiografia e exame radiográfico simples e contrastado que evidenciaram a presença de lobos hepáticos no saco pericárdico. O animal foi submetido a celiotomia pré-umbilical para correção do defeito, apresentando melhora imediata dos sinais clínicos após a correção cirúrgica.

Hernia de Bochdalek en adulto: una entidad extremadamente infrecuente. Reporte de caso / Bochdalek hernia in adult: an extremely infrequent entity

Resumen Introducción: La hernia de Bochdalek es el tipo de hernia diafragmática congénita más frecuente. Existen menos de 200 reportes en adultos, lo cual representa el 5% de la literatura médica. Por lo que su diagnóstico es excepcional. Caso clínico: Mujer de 23 años de edad, ingresó referida de su unidad de salud con diagnóstico de neumotórax espontáneo tras presentar dolor en el hemitórax izquierdo y disnea 24 horas posteriores a trabajo de parto. En el servicio de urgencias se colocó sonda endopleural; sin embargo, al no obtener reexpansión pulmonar, se solicitó TAC simple toracoabdominal e interconsulta con los servicios de radiología y cirugía. Se realizó diagnóstico de hernia de Bochdalek incarcerada y laparotomía urgente con cierre primario del defecto herniario. Cursó con adecuada evolución y fue egresada al cuarto día postoperatorio. Discusión: El diagnóstico de hernia de Bochdalek se asocia a errores diagnósticos hasta en 38% de los casos, dada su baja incidencia y variedad de presentación clínica. En este caso se realizó un diagnóstico inicial de neumotórax con colocación de sonda endopleural, lo cual pudo haber ocasionado graves consecuencias. Conclusión: El diagnóstico de hernia de Bochdalek representa un reto ya que el retraso del manejo se asocia a riesgo elevado de complicaciones.

Abstract Introduction: The Bochdalek hernia is the most common congenital diaphragmatic defect. There are less than 200 cases reported in adults, which represent about 5% of the cases in medical literature; therefore, its diagnosis is hard to make. Clinical case: A 23-year-old female patient who was referred from her medical institution with a diagnosis of spontaneous pneumothorax after suffering from left hemithorax pain and dyspnea 24 hours after undergoing labor. At the emergency room, an endopleural tube was placed, but since there was no pulmonary re-expansion, an unenhanced CT scan was performed and a medical petition was requested to the radiology and surgery department. A diagnosis of incarcerated Bochdalek hernia was made and the patient underwent an emergency laparotomy with primary closure. She recovered successfully and was discharged from hospital on the fourth postoperative day. Discussion: Bochdalek hernia is misdiagnosed in about 38% of the cases because of its low incidence and the different types of clinical presentations. In this case, the main diagnosis was initially a spontaneous pneumothorax with endopleural seal placement, which could have caused several complications. Conclusion: The Bochdalek hernia represents a diagnostic challenge because delaying its management is associated with high-risk complications.

Cirugía fetal para hernia diafragmática congénita en América Latina

Congenital diaphragmatic hernia is an anomaly in the formation of the diaphragm, which is associated with high neonatal mortality secondary to pulmonary hypoplasia and neonatal pulmonary arterial hypertension. Diagnosis is made by ultrasound, usually in the 20th week of gestation, and it is mandatory to request genetic studies (karyotype and microarrays) due to the high risk of chromosomal and monogenic anomalies. In isolated cases, the estimation of lung size in combination with the identification of liver herniation is the best predictive parameter of neonatal survival. In cases with serious pulmonary hypoplasia, fetoscopic tracheal occlusion has improved the survival rate in 30%. In this article, indications, selection criteria, technique and results of fetoscopic tracheal occlusion are reviewed, and differences in neonatal survival rate in Latin America are highlighted.

La hernia diafragmática congénita es una anomalía en la formación del diafragma, asociada a elevada mortalidad neonatal secundaria a hipoplasia pulmonar e hipertensión arterial pulmonar neonatal. El diagnóstico se realiza por ultrasonido, generalmente en la semana 20 de gestación, y es mandatorio solicitar estudios genéticos (cariotipo y microarreglos) debido al alto riesgo de asociación con anomalías cromosómicas y monogénicas. En casos aislados, la estimación del tamaño pulmonar en combinación con la identificación de herniación hepática es el mejor parámetro predictivo de supervivencia neonatal. En los casos con hipoplasia pulmonar grave, la oclusión traqueal fetoscópica ha demostrado una mejoría en la tasa de supervivencia en 30% con respecto a la probabilidad basal. En este artículo, se resume las indicaciones, criterios de selección, técnica y resultados de la oclusión traqueal fetoscópica, destacando las diferencias de tasa de supervivencia neonatal que existen en América Latina.

Utilidad de factores pronósticos antenatales en pacientes con hernia diafragmática congénita aislada / Usefulness of antenatal prognostic factors in patients with hernia congenital diaphragmatic isolated

La Hernia Diafragmática Congénita (HDC) corresponde a una malformación del diafragma por la cual los órganos abdominales protruyen hacia la cavidad torácica durante el desarrollo intrauterino. Los recién nacidos afectados presentan grados variables de insuficiencia respiratoria e hipertensión pulmonar, asociándose a una alta morbilidad y mortalidad. Materiales y métodos: Se revisaron los casos de HDC controlados en los períodos pre y post-natal en el Hospital Clínico UC durante el período 2012-2016. Se analizaron los resultados perinatales según distintos factores pronósticos. Resultados: Fueron analizadas 26 embarazadas con diagnóstico de HDC. La sobrevida global fue de un 77% (20/26). La mortalidad global de las pacientes con herniación hepática fue de un 45% (5/11) versus 7% (1/15) en los fetos con hígado no herniado. La mortalidad neonatal fue de un 14% (3/21) en las pacientes con la relación pulmón cabeza (LHR), (observado/ esperado) o/e ≥ a 45% y 60% (3/5) cuando el LHR o/e es < 45%. De las pacientes con LHR o/e ≥ 45%, la necesidad de ECMO fue de un 33% (8/21) mientras que un LHR o/e < 45% fue de un 20% (1/5). Conclusión: La obtención antenatal de un LHR o/e ≥ 45% y ausencia de herniación hepática, son buenos predictores de sobrevida neonatal. La medición de LHR o/e no es capaz de discriminar que pacientes desarrollarán morbilidad respiratoria grave, por lo que debemos buscar nuevos y mejores modelos que permitan seleccionar que pacientes requerirán nacer en un centro con disponibilidad de terapias de soporte vital avanzado como el ECMO neonatal. (AU)

Congenital Diaphragmatic Hernia (CDH) is a malformation of the diaphragm muscle in which the abdominal organs protrude into the thoracic cavity during intrauterine development. Affected newborns have varying degrees of respiratory failure and pulmonary hypertension, associated with high morbidity and mortality. Materials and methods: Controlled HDC cases were reviewed in the pre and post-natal periods at the Clinical Hospital UC during the period 2012-2016. Perinatal results were analyzed according to different prognostic factors. Results: During the 2012-2016 period, 26 pregnant women with a diagnosis of CDH were monitored. The overall mortality of patients with hepatic herniation was 45% (5/11) versus 7% (1/15) in fetuses with a non-herniated liver. Neonatal mortality was 14% (3/21) in patients with o/e (observed/expected) LHR ≥ 45% and 60% (3/5) when the o/e LHR <45%. Of the patients with o/e LHR ≥ 45%, the need for ECMO was 33% (8/21), while a LHR o/e <45% was 20% (1/5). Conclusion: An o/e LHR ≥ 45% and absence of hepatic herniation are good predictors of neonatal survival. The o/e LHR measurement is not capable of identifying which patients will develop severe respiratory morbidity, so we must explore new and better models that allow us to select patients who need to give birth in centers with available advanced life support therapies, such as neonatal ECMO. (AU)

Fetoscopic tracheal occlusion for severe congenital diaphragmatic hernia: retrospective study / Oclusão traqueal por fetoscopia em hérnia diafragmática congênita grave: estudo retrospectivo

Abstract Background and objectives: The temporary fetal tracheal occlusion performed by fetoscopy accelerates lung development and reduces neonatal mortality. The aim of this paper is to present an anesthetic experience in pregnant women, whose fetuses have diaphragmatic hernia, undergoing fetoscopic tracheal occlusion (FETO). Method: Retrospective, descriptive study, approved by the Institutional Ethics Committee. Data were obtained from medical and anesthetic records. Results: FETO was performed in 28 pregnant women. Demographic characteristics: age 29.8 ± 6.5; weight 68.64 ± 12.26; ASA I and II. Obstetric: IG 26.1 ± 1.10 weeks (in FETO); 32.86 ± 1.58 (reversal of occlusion); 34.96 ± 2.78 (delivery). Delivery: cesarean section, vaginal delivery. Fetal data: Weight (g) in the occlusion and delivery times, respectively (1045.82 ± 222.2 and 2294 ± 553); RPC in FETO and reversal of occlusion: 0.7 ± 0.15 and 1.32 ± 0.34, respectively. Preoperative maternal anesthesia included ranitidine and metoclopramide, nifedipine (VO) and indomethacin (rectal). Preanesthetic medication with midazolam IV. Anesthetic techniques: combination of 0.5% hyperbaric bupivacaine (5-10 mg) and sufentanil; continuous epidural predominantly with 0.5% bupivacaine associated with sufentanil, fentanyl, or morphine; general. In 8 cases, there was need to complement via catheter, with 5 submitted to PC and 3 to BC. Thirteen patients required intraoperative sedation; ephedrine was used in 15 patients. Fetal anesthesia: fentanyl 10-20 mg.kg-1 and pancuronium 0.1-0.2 mg.kg-1 (IM). Neonatal survival rate was 60.7%. Conclusion: FETO is a minimally invasive technique for severe congenital diaphragmatic hernia repair. Combined blockade associated with sedation and fetal anesthesia proved safe and effective for tracheal occlusion.

Resumo Justificativa e objetivos: A oclusão traqueal fetal temporária feita por meio da fetoscopia acelera o desenvolvimento pulmonar e reduz a mortalidade neonatal. O objetivo deste trabalho é apresentar experiência anestésica em gestantes cujos fetos eram portadores de hérnia diafragmática e foram submetidos à oclusão traqueal por fetoscopia (FETO). Método: Estudo retrospectivo, descritivo, aprovado pelo Comitê de Ética da Instituição. Os dados foram obtidos das fichas anestésicas e dos prontuários. Resultados: A FETO foi feita em 28 gestantes. Características demográficos: idade 29,8 ± 6,5; peso 68,64 ± 12,26; ASA I e II. Obstétricas: IG 26,1 ± 1,10 semana (na FETO); 32,86 ± 1,58 (desoclusão); 34,96 ± 2,78 (parto). Via de parto: cesárea, parto vaginal. Dados fetais: peso (g) nos momentos da oclusão e nascimento, respectivamente (1.045,82 ± 222,2 e 2294 ± 553); RPC na FETO e desoclusão: 0,7 ± 0,15 e 1,32 ± 0,34, respectivamente. Anestesia materna: pré-operatório incluiu ranitidina e metoclopramida; nifedipina (VO) e indometacina (retal). Medicação pré-anestésica com midazolam EV. Técnicas anestésicas: bloqueio combinado com bupivacaína 0,5% hiperbárica 5-10 mg associada ao sufentanil; peridural contínua predominantemente com bupivacaína 0,5% associada a sufentanil, fentanil ou morfina; geral. Em oito casos houve necessidade de complementação pelo cateter, cinco nas submetidas a PC e três a BC. No intraoperatório 13 pacientes necessitaram de sedação; efedrina foi usada em 15 pacientes. Anestesia fetal: fentanil 10 a 20 mg.kg-1 e pancurônio 0,1-0,2 mg.kg-1 (IM). A taxa de sobrevida neonatal foi de 60,7%. Conclusão: A FETO constitui técnica minimamente invasiva para correção de hérnia diafragmática congênita grave. O bloqueio combinado associado à sedação e anestesia fetal se mostrou seguro e eficaz para a oclusão traqueal.

[Fetoscopic tracheal occlusion for severe congenital diaphragmatic hernia: retrospective study]. / Oclusão traqueal por fetoscopia em hérnia diafragmática congênita grave: estudo retrospectivo.

BACKGROUND AND OBJECTIVES: The temporary fetal tracheal occlusion performed by fetoscopy accelerates lung development and reduces neonatal mortality. The aim of this paper is to present an anesthetic experience in pregnant women, whose fetuses have diaphragmatic hernia, undergoing fetoscopic tracheal occlusion (FETO). METHOD: Retrospective, descriptive study, approved by the Institutional Ethics Committee. Data were obtained from medical and anesthetic records. RESULTS: FETO was performed in 28 pregnant women. Demographic characteristics: age 29.8±6.5; weight 68.64±12.26; ASA I and II. Obstetric: IG 26.1±1.10 weeks (in FETO); 32.86±1.58 (reversal of occlusion); 34.96±2.78 (delivery). Delivery: cesarean section, vaginal delivery. Fetal data: Weight (g) in the occlusion and delivery times, respectively (1045.82±222.2 and 2294±553); RPC in FETO and reversal of occlusion: 0.7±0.15 and 1.32±0.34, respectively. Preoperative maternal anesthesia included ranitidine and metoclopramide, nifedipine (VO) and indomethacin (rectal). Preanesthetic medication with midazolam IV. Anesthetic techniques: combination of 0.5% hyperbaric bupivacaine (5-10mg) and sufentanil; continuous epidural predominantly with 0.5% bupivacaine associated with sufentanil, fentanyl, or morphine; general. In 8 cases, there was need to complement via catheter, with 5 submitted to PC and 3 to BC. Thirteen patients required intraoperative sedation; ephedrine was used in 15 patients. Fetal Anesthesia: fentanyl 10 to 20mg·kg-1 and pancuronium 0,1-0,2mg·kg-1 (IM). Neonatal survival rate was 60.7%. CONCLUSION: FETO is a minimally invasive technique for severe congenital diaphragmatic hernia repair. Combined blockade associated with sedation and fetal anesthesia proved safe and effective for tracheal occlusion.

Hernia diafragmática congénita de presentación tardía / Late-presenting congenital diaphragmatic hernia

La hernia diafragmática congénita de presentación tardía (HDCT) es una entidad infrecuente, representa del 5 a 20 % de todos los casos de hernia diafragmática congénita. La presentación clínica, diagnóstico y tratamiento difiere de la hernia de presentación neonatal, dada la ausencia de hipoplasia e hipertensión pulmonar. El amplio espectro clínico de la presentación tardía o su hallazgo radiológico incidental, pueden plantear un desafío diagnóstico; la demora en su detección y abordaje aumentan la morbimortalidad y ensombrecen el pronóstico. Presentamos el caso de una escolar de 8 años de edad a quien se le diagnostica una hernia diafragmática congénita izquierda y se hace revisión del diagnóstico, tratamiento y pronóstico de la enfermedad.

The late-presenting congenital diaphragmatic hernia is a rare entity that corresponds to the 5 - 20% of all congenital diaphragmatic hernia cases. The clinical manifestations ,diagnosis and treatment differ from the neonatal presentation in the absence of pulmonary hypoplasia and pulmonary hypertension. The wide clinical spectrum of the late-presenting diaphragmatic hernia or its incidental finding on radiological images can lead to a challenging diagnosis. The delay in the detection and approach increases the morbidity and mortality, and darkens the prognosis. We are presenting a case of an eighth year-old scholar who is diagnosed with a congenital left diaphragmatic hernia, as well as a review of the diagnosis, treatment and prognosis of this pathology.

Hernia diafragmática congénita bilateral de diagnóstico tardío: reporte de un caso / Late diagnosis bilateral congenital diaphragmatic hernia: a case report

La hernia diafragmática congénita (HDC) es una malformación rara, habitualmente unilateral y más frecuente del lado izquierdo. La HDC bilateral representa el 1% de todas las HDC. La mortalidad es mayor en las HDC derechas y en las bilaterales. Reportamos el caso de un paciente con HDC bilateral, cuya malformación inicialmente se diagnosticó y trató como una HDC derecha. Luego se encontró la presencia de HDC izquierda durante la cirugía de Ladd laparoscópica a los 8 meses de edad.

Congenital diaphragmatic hernia (CDH) is a rare malformation, usually unilateral and left sided. Bilateral CDH (B-CDH) represents 1% of all CDH. Mortality is higher in right side and bilateral defects. We report a case of a patient with Bilateral CDH, initially diagnosed and treated as unilateral right CDH. At 8 months during a laparoscopic Ladd procedure a left side CDH was found.

Intubación endotraqueal intraparto en un feto con hernia diafragmática. A propósito de la primera cirugía fetal EXIT (ex-utero intrapartum treatment) en el Perú

Se presenta el caso de una primigrávida de 39 semanas de edad gestacional referida a nuestro servicio por hernia diafragmática izquierda en el feto. Se programó una cirugía fetal EXIT (ex-utero intrapartum treetrnenti que permitió la intubación orotraqueal intraparto controlada evitando el período de hipoxia fetal que normalmente ocurre con el procedimiento neonatal convencional. Demostramos que esta cirugía, altamente especializada, se puede realizar exitosamente en nuestro país, incluyendo otros casos que comprometan la vía aérea del feto. A propósito del caso, la cirugía EXIT se ha constituido en el estándar de manejo perinatal de fetos con hernia diafragmática en nuestra institución.

We report the case of a pregnant woman attended at our unit with 39 weeks of gestation carrying a fetus affected with left diaphragmatic hernia. An EXIT (ex-utero intrapartum treatment) procedure was carried out in order to reduce hypoxia and aerophagia commonly observed during neonatal intubation. We demonstrate the feasibility of this highly specialized procedure in our local setting, not onlyfor diaphragmatic hernia but also for diseases affecting fetal airway. This procedure is currently a standard procedure in perinatal care of fetuses with diaphragmatic hernia at our hospital.

Cirugía fetal: hernia diafragmática congénita presentación de caso / Fetal surgery: congenital diaphragmatic hernia: case presentation

Introducción: la hernia diafragmática congénita es una malformación que resulta de la fusión incompleta de la membrana pleuroperitoneal, ocurre en alrededor de 1 / 2.000-5.000 recién nacidos vivos y es causa por lo general de síntomas severos de insuficiencia respiratoria e hipertensión arterial pulmonar en los niños de este grupo de edad. El tratamiento se basa en mantener las mejores condiciones respiratorias en el niño mediante manejo de terapia intensiva neonatal y una vez que se logra este objetivo, se debe proceder con la corrección quirúrgica del defecto anatómico. Desafortunadamente, a pesar del avance en el manejo respiratorio del recién nacido gravemente enfermo, la mortalidad por este padecimiento se reporta por arriba de 75%. Se han determinado diversos factores pronósticos prenatales que confirman su severidad y la inviabilidad de estos fetos. La oclusión de la tráquea fetal en modelos animales con HDC inducida y en el feto humano evidenció desarrollo y crecimiento pulmonar. La oclusión traqueal fetal ofrece esperanzas vitales para estos casos de HDC severa que con el tratamiento convencional tienen una mortalidad cercana al 100%. Es necesaria una serie más amplia para obtener conclusiones definitivas. El principal enemigo de la cirugía fetal es el trabajo de parto prematuro y la rotura prematura de membranas. El acceso fetoscópico y la tocolisis reducen la incidencia de esta eventualidad. Caso clínico: presentamos dos casos clínicos de recién nacidos con hernia diafragmática de lado izquierdo que permitió el paso de la mayoría de las vísceras abdominales hacia el tórax con síntomas leves de falla respiratoria.

Introduction: congenital diaphragmatic hernia results from the incomplete fusion of the pleuroperitoneal membrane and occurs with a frequency of about ½.000-5.000 live-births. Despite advances in neonatal intensive care and surgery, mortality varies from one institution to another and may be above 75%. There are some prenatal prognostic factors that assess the CDH severity and thus, the fetal viability. Fetal tracheal occlusion (TO) in experimental animal CDH models, and in human fetuses induce lung growth. Fetal TO offers a better outcome for patients with severe CDH that otherwise would have a 100% mortality rate despite the advanced postnatal care. A greater number of cases are needed to obtain stronger conclusions. The major enemies of fetal surgery are the premature rupture of membranes and the preterm labor. Fetoscopic approach and tocolysis could help preventing these eventualities. Case study: we present the cases of two newborn babies with left- sided diaphragmatic hernia that allowed the passage of most of the abdominal viscerae into the thorax with only mild symptoms of respiratory failure. Keywords: diaphragmatic hernia, fetal surgery, intrauterine treatment, fetoscopy, tracheal occlusion.

Programa de diagnóstico y tratamiento fetal. Estudio de cohorte sobre su efectividad en la evolución de neonatos con patologías quirúrgicas / Program for prenatal diagnosis and treatment: A cohort study on effectivity on the outcome of newborns with surgical pathologies

Introducción. El diagnóstico prenatal de las malformaciones congénitas (MC) permite optimizar el cuidado perinatal. Al Hospital Garrahan (HG) ingresan recién nacidos (RN) con MC para tratamiento quirúrgico. Desde el año 2008 funciona el programa de diagnostico y tratamiento fetal (PDTF) para optimizar el cuidado prenatal y perinatal de RN con MC. El objetivo del estudio es evaluar el impacto de la derivación prenatal en RN que ingresan a la unidad de cuidados intensivos neonatales (UCIN) del HG por MC seleccionadas. Población y Métodos: estudio observacional analítico y comparativo entre grupos, sobre condición de ingreso y evolución de RN con gastrosquisis (GTQ), mielomeningocele (MMC) y hernia diafragmática (HD) y grado de stress parental, según ingreso a UCIN por derivación prenatal o postnatal. Se realizó análisis bivariado, descriptivo y comparativo de indicadores generales y especiales de cuidado. Resultados: Se incluyeron 164 RN (44 con derivación prenatal a través del PDTF). Este grupo presentó: mejor control del embarazo (93% vs 66%, p: 0.04), menor edad gestacional al diagnóstico (24s vs 33s p=0.0006) y mayor tasa de cesárea electiva (95 vs 47%, p=0.0001). Los RN tuvieron menor necesidad de reanimación e ingresaron más tempranamente a la Unidad (mediana 4hs vs 10hs, p=0,004). Hubo menor stress parental en relación al hijo (17 vs 40%). Los RN con GTQ ingresaron mejor curados y se alimentaron por vía enteral más rápidamente. Conclusión: Los RN con MC derivados prenatalmente a través del PDTF, ingresan precozmente y presentaron mejores estrategias de cuidado que los ingresados por derivación habitual (AU)

Introduction. Prenatal diagnosis of congenital malformations (CM) improve perinatal care. At the Garrahan Hospital (GH) newborns (NB) with CM are admitted for surgical treatment. Since 2008 a program for prenatal diagnosis and treatment (PDT) has been in place to optimize prenatal and perinatal care of NB with CM. The aim of this study was to assess the impact of prenatal referral of NB that are admitted to the GH for selected CM. Population and Methods: An observational, analytical, and between-group comparative study was conducted on the status on admission and outcome in NB with gastroschisis (GS), myelomeningocele (MMC), and diaphragmatic hernia (DH) and degree of parental stress, according to NICU admission after prenatal or postnatal referral. Bivariate, descriptive and comparative analysis of general and specific markers of care was performed. Results: 164 NB were included (44 were prenatally referred through the PDT program). The latter group presented with better pregnancy control (93% vs 66%, p: 0.04), younger gestational age at diagnosis (24w vs 33w p=0.0006), and higher rate of elective cesarean section (95 vs 47%, p=0.0001). This group of NB needed less reanimation and were admitted to the NICU earlier (∑4hs vs 10hs, p=0.004). Parental child-related stress was less (17 vs 40%). NB with GS had a better surgical outcome and were started on enteral feeding earlier. Conclusion: NB with CM that were prenatally referred through the PDT program, were admitted earlier and could be managed with better strategies than those who were conventionally referred (AU)