Fármacos antiepilépticos usados en el embarazo y sus consecuencias sobre los resultados fetales: una revisión de la literatura / Antiepileptic drugs used in pregnancy and their consequences on fetal outcomes: a review of the literature

Los riesgos teratogénicos ocasionados por la exposición intrauterina a fármacos antiepilépticos (FAE) son conocidos, por lo que su prescripción se mantiene bajo estricto control. Describir los efectos adversos fetales de la exposición a FAE durante la gestación, reportados en la literatura durante el período 2016-2022. Revisión sistematizada de estudios que reportaron los efectos adversos fetales inducidos por la exposición a FAE en mujeres embarazadas en tratamiento por diagnósticos neurológicos, principalmente de epilepsia. La búsqueda se realizó en PubMed, Cochrane, Web of Science, SCOPUS, Biblioteca Virtual en Salud, Lilacs y SciELO. Se identificaron 37 artículos distribuidos en 13 países de Asia, Europa, América del Norte y Oceanía. Se observaron resultados perinatales adversos, tanto físicos como cognitivos, en la mayoría de los estudios. Los fármacos identificados como los más utilizados en los últimos años fueron valproato, topiramato, carbamazepina, lamotrigina y levetiracetam. Los FAE tienen potencial teratogénico en distintos grados de riesgo, provocando anomalías congénitas o efectos adversos en múltiples sistemas del cuerpo humano, siendo los sistemas nervioso, circulatorio y osteomuscular los más afectados.

The teratogenic risks caused by intrauterine exposure to antiepileptic drugs (AED) are known, so their prescription is kept under strict control. To describe the fetal adverse effects AED exposure during gestation, reported in the literature during the period 2016-2022. Systematized review of studies that reported fetal adverse effects induced for the exposure to AED in pregnant women in treatment for neurological diagnoses, mainly epilepsy. The search was carried out in PubMed, Cochrane, Web of Science, SCOPUS, Virtual Health Library, Lilacs and SciELO. 37 articles distributed in thirteen countries in Asia, Europe, North America and Oceania were identified. Adverse perinatal outcomes, both physical and cognitive, were observed in most studies. The most common drugs identified were valproate, topiramate, carbamazepine, lamotrigine and levetiracetam. AED have teratogenic potential in different degrees of risk, causing congenital anomalies or adverse effects in multiple systems of the human body, being the nervous, circulatory and musculoskeletal systems the most affected.

Diagnóstico prenatal de dos casos de anomalías congénitas del desarrollo venoso sistémico: una entidad muy poco frecuente (España) / Prenatal diagnosis of two cases of congenital systemic venus return anomalies: a rare entity (Spain) / Diagnóstico pré-natal de dois casos de anormalidades congênitas do desenvolvimento venoso sistêmico: uma entidade muito rara (Espanha)

Introducción: las anomalías en el desarrollo del sistema venoso sistémico son una entidad poco frecuente, cuyo diagnóstico ecocardiográfico prenatal y posnatal puede suponer todo un reto. Por un lado, debido a su baja incidencia y por otro, a la dificultad en la correcta realización de los planos ecocardiográficos. No obstante, su diagnóstico es de vital importancia debido a la asociación con cardiopatías congénitas o cromosopatías. Objetivo: describir dos casos de una anomalía congénita cardiovascular poco frecuente. La persistencia de la vena cava superior izquierda con agenesia de la vena cava superior derecha es una de estas anomalías descritas cuya incidencia es muy baja cuando ambas variaciones se presentan conjuntamente. Casos clínicos: presentamos dos casos de recién nacidos sin antecedentes personales o familiares de interés, diagnosticados prenatalmente, cuyos hallazgos ecocardiográficos se confirman en el período posnatal. Conclusiones: ante el hallazgo aislado en el período fetal de esta variación anatómica que asocia dos anomalías del sistema venoso sistémico, cabe destacar la importancia de su confirmación ecocardiográfica posnatal para descartar cardiopatías congénitas de difícil diagnóstico durante la época prenatal. Así mismo, antes de la confirmación ecocardiográfica que será llevada a cabo por el cardiológico infantil, cabe destacar la importancia del pediatra en la primera exploración física y en la anamnesis a la familia para descartar posibles cardiopatías congénitas críticas o posibles síndromes asociados. El diagnóstico prenatal de persistencia de la vena cava superior izquierda con agenesia de la vena cava superior derecha le permitirá tener un alto grado de sospecha de estas patologías asociadas y por tanto llevar a cabo una actuación clínica precoz.

Introduction: anomalies in the development of the systemic venous system are a rare entity, and its prenatal and postnatal echocardiographic diagnosis can be challenging, due to its low incidence as well as to the difficulty in correctly performing echocardiographic imaging planes. However, its diagnosis is key because it is linked to congenital heart disease or chromosomal anomalies. Objective: describe two cases of a rare cardiovascular congenital anomaly. The persistence of the left superior vena cava with agenesis of the right superior vena cava is one of these described anomalies, with very low incidence when both variations occur together. Clinical cases: we present two cases of newborns with no relevant personal or family history, diagnosed prenatally with confirmed echocardiographic findings in the postnatal period. Conclusions: given the isolated finding in the fetal period of this anatomical variation that associates two anomalies of the systemic venous system, we should note the importance of its postnatal echocardiographic confirmation to rule out congenital heart disease that is difficult to diagnose during the prenatal period. Likewise, prior to the echocardiographic confirmation carried out by the pediatric cardiologist, we should stress the importance of the pediatrician diagnosis in the first physical examination and of the family history to rule out possible critical congenital heart disease or possible associated syndromes. The prenatal diagnosis of VCSIP with agenesis of the VCSD will lead to a high degree of suspicion of these associated pathologies and therefore may lead to early clinical action.

Introdução: as anomalias no desenvolvimento do sistema venoso sistêmico são uma entidade rara, cujo diagnóstico ecocardiográfico pré-natal e pós-natal pode ser um grande desafio. Por um lado, pela sua baixa incidência e, por outro, pela dificuldade em realizar corretamente os planos ecocardiográficos. No entanto, seu diagnóstico é vital devido à associação com cardiopatias congênitas ou anormalidades cromossômicas. Objetivo: descrever dois casos de rara anomalia congênita cardiovascular. A persistência da veia cava superior esquerda com agenesia da veia cava superior direita é uma dessas anomalias descritas cuja incidência é muito baixa quando ambas as variações ocorrem juntas. Casos clínicos: apresentamos dois casos de recém-nascidos sem antecedentes pessoais ou familiares significativos, diagnosticados no pré-natal e cujos achados ecocardiográficos foram confirmados no período pós-natal. Conclusões: dado o achado isolado no período fetal desta variação anatômica que associa duas anomalias do sistema venoso sistêmico, devemos ressaltar a importância de sua confirmação ecocardiográfica pós-natal para descartar cardiopatia congênita de difícil diagnóstico no pré-natal . Da mesma forma, antes da confirmação ecocardiográfica que será realizada pelo cardiologista pediátrico, ressaltamos a importância do pediatra no primeiro exame físico e na história familiar para afastar possíveis cardiopatias congênitas críticas ou possíveis síndromes associadas. O diagnóstico pré-natal de VCSIP com agenesia do VCSD permitirá ter um alto grau de suspeita dessas patologias associadas e, portanto, realizar uma ação clínica precoce.

Corioamnionitis Histológica Asociada a Muerte Fetal / Histological Chorioamnionitis Associated with Fetal Death

INTRODUCCIÓN. Anualmente ocurren más de 2 millones de muertes fetales a nivel mundial, siendo fundamental el estudio anatomopatológico placentario para disminuir el número de muertes inexplicadas. OBJETIVO. Revisar la literatura existente acerca de corioamnionitis histológica, los criterios para establecer su diagnóstico, su presencia y posible asociación en estudios de causas de muerte fetal. METODOLOGÍA. Se realizaron búsquedas en bases de datos electrónicas para recopilar estudios de causas de muerte fetal que incluyeron corioamnionitis histológica. RESULTADOS. Se encontraron 13 estudios que evaluaron mortalidad fetal y que entre sus causas incluyeron corioamnionitis histológica. DESARROLLO. El estudio microscópico placentario en muertes fetales es esencial al investigar una muerte fetal. Las anomalías placentarias son la causa más común de muerte fetal, la corioamnionitis aguda es la lesión inflamatoria más frecuente. Se detallaron los criterios más relevantes para definir corioamnionitis aguda histológica pero aún no se establece un consenso. Estudios de causas de muerte fetal en años recientes han reportado corioamnionitis histológica entre 6,3% y 41,3% de casos. Las alteraciones inflamatorias del líquido amniótico son una causa importante de muerte fetal, siendo la corioamnionitis la más frecuente en este grupo. CONCLUSIÓN. En estudios para determinar las causas de muerte fetal se evidenció corioamnionitis aguda histológica en hasta el 41,3% de casos, por lo que podría estar asociada a dicho evento. Sin embargo, es necesario establecer un sistema de estadiaje de corioamnionitis histológica mediante un panel de expertos a nivel mundial.

INTRODUCTION. Annually more than 2 million fetal deaths occur worldwide, being fundamental the placental anatomopathological study to reduce the number of unexplained deaths. OBJECTIVE. To review the existing literature on histological chorioamnionitis, the criteria to establish its diagnosis, its presence and possible association in studies of causes of fetal death. METHODOLOGY. Electronic databases were searched to collect studies of causes of fetal death that included histologic chorioamnionitis. RESULTS. Thirteen studies were found that evaluated fetal mortality and that included histologic chorioamnionitis among their causes. DEVELOPMENT: Placental microscopic study in fetal deaths is essential when investigating a fetal death. Placental abnormalities are the most common cause of fetal death, acute chorioamnionitis being the most frequent inflammatory lesion. The most relevant criteria for defining histologic acute chorioamnionitis have been detailed but consensus has not yet been established. Studies of causes of fetal death in recent years have reported histologic chorioamnionitis in between 6,3% and 41,3% of cases. Inflammatory changes in the amniotic fluid are an important cause of fetal death, with chorioamnionitis being the most frequent in this group. CONCLUSIONS. In studies to determine the causes of fetal death, histological acute chorioamnionitis was evidenced in up to 41,3% of cases, so it could be associated with this event. However, it is necessary to establish a histological chorioamnionitis staging system by means of a worldwide panel of experts.

Sobrevida de los recién nacidos con cardiopatías congénitas diagnosticadas prenatalmente / Survival of newborns with prenatally diagnosed congenital heart disease

Objetivo: Estimar la sobrevida al año de los recién nacidos con cardiopatías congénitas diagnosticadas prenatalmente y el perfil epidemiológico de sus madres. Método: Cohorte dinámica retrospectiva de 825 pacientes, ingresados entre el 1 de abril de 2003 y el 31 de marzo de 2019, con tiempo de seguimiento de 1 año, que se elaboró utilizando la base de datos del Centro de Referencia Perinatal Oriente (CERPO), Facultad de Medicina, Universidad de Chile. Resultados: Se estimó la función de supervivencia global de la muestra, obteniendo una supervivencia del 70% al año de seguimiento (error estándar (ES): 0,0164; intervalo de confianza del 95% [IC95%]: 0,66-0,73). Los recién nacidos con edad gestacional < 30 semanas tuvieron una menor sobrevida (hazard ratio [HR]: 4,17; IC95%: 1,52-11.44; p < 0,01). Los recién nacidos con un peso < 3000 g tuvieron una menor sobrevida (HR: 1,41; IC95%: 1,09-1,84; p < 0,01). La distribución de las cardiopatías congénitas según la gravedad en esta cohorte fue: riesgo vital 64%, clínicamente relevante 34% y clínicamente no relevante 2%. La menor sobrevida fue para la categoría riesgo vital (HR: 6,005; IC95%: 3,97-9,08; p < 0,01). Conclusiones: La prematuridad, el bajo peso al nacer y la gravedad de la cardiopatía se correlacionaron con una menor sobrevida.

Objective: To estimate the survival at one year of newborns with prenatally diagnosed congenital heart diseases and the epidemiological profile of their mothers. Method: Dynamic retrospective cohort of 825 patients, admitted between April 1, 2003 and March 31, 2019, with a follow-up time of 1 year, which was elaborated using the database of the Centro de Referencia Perinatal Oriente (CERPO), Faculty of Medicine, Universidad de Chile. Results: The overall survival function of the sample was estimated, resulting in a survival of 70% at one year follow-up (standard error (SE): 0.0164; 95% confidence interval [95% CI]: 0.66-0.73). Newborns with gestational age < 30 weeks had a lower survival (hazard ratio [HR]: 4.17; 95% CI: 1.52-11.44; p < 0.01). Newborns with a birth weight < 3000 g had a lower survival (HR: 1.41; 95% CI: 1.09-1.84; p < 0.01). The distribution of congenital heart disease according to severity in this cohort was: life-threatening 64%, clinically relevant 34% and clinically not relevant 2%. With a lower survival for the life-threatening category (HR: 6.005; 95% CI: 3.97-9.08; p < 0.01). Conclusions: Prematurity, low birth weight and severity of congenital heart correlated with a lower survival rate.

Enterocolitis necrosante posterior a evento aislado de taquicardia supraventricular: reporte de un caso de presentación neonatal atípica / Necrotizing enterocolitis after an isolated event of supraventricular tachycardia. Case report of atypical neonatal presentation

La taquicardia supraventricular (TSV) es la principal taquiarritmia en el recién nacido (RN) que requiere una resolución urgente. Por su parte, la enterocolitis necrosante (ECN) es la emergencia gastrointestinal más común que afecta principalmente a RN prematuros. Aunque estas se reconocen como patologías distintas, la bibliografía sugiere que los episodios de TSV pueden predisponer a los pacientes a la ECN a través de alteraciones en el flujo sanguíneo mesentérico y una disminución de la perfusión tisular. Se presenta aquí el caso clínico de un neonato prematuro que desarrolló un cuadro de ECN luego de un evento aislado de TSV con bajo gasto cardíaco

Supraventricular tachycardia (SVT) is the main tachyarrhythmia in the newborn (NB) that requires urgent resolution. Necrotizing enterocolitis (NEC) is the most common gastrointestinal emergency that mainly affects premature infants. Although these conditions are recognized as distinct pathologies, literature reports suggest that episodes of SVT may predispose patients to NEC secondary to disturbances in mesenteric blood flow and a decrease in tissue perfusion. We present here the clinical case of a premature neonate who developed NEC after an isolated SVT event with low cardiac output

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Hipoglucemia neonatal en hijos de madres con diabetes mellitus gestacional. Comparación de la incidencia según el tratamiento materno / Neonatal hypoglycemia in infants born to mothers with gestational diabetes mellitus. Comparison of its incidence based on maternal treatment

Introducción. La hipoglucemia neonatal es una complicación de la diabetes mellitus gestacional Son pocos los estudios que avalan la pesquisa sistemática en este grupo poblacional durante las primeras horas de vida. Objetivos. Evaluar la asociación entre tratamiento materno recibido (dieta versus insulina) y el desarrollo de hipoglucemia, e identificar los factores de riesgo asociados. Población y métodos. Estudio observacional, analítico y retrospectivo realizado en en las sedes de Buenos AIres y San Justo de un hospital general de tercer nivel entre el 1 de enero de 2017 y el 31 de diciembre de 2018. Se estimó la incidencia de hipoglucemia (≤47 mg/dl) en recién nacidos según el manejo de la diabetes materna y se realizó un análisis multivariable para evaluar factores asociados. Resultados. Se incluyeron 195 pacientes. No se encontró diferencia estadística en la incidencia de hipoglucemia según el tratamiento materno recibido (45,3 % versus 39,7 %; p = 0,45) ni se identificaron factores de riesgo asociados. Modificando el valor de corte a ≤40 mg/dl, tampoco se encontraron diferencias en la incidencia (23,4 % versus 19 %, p = 0,48); no obstante, los pacientes hipoglucémicos presentaron un hematocrito significativamente mayor y una menor prevalencia de lactancia exclusiva al egreso. El análisis multivariable mostró una asociación independiente entre alto peso al nacer con hipoglucemia que requiere corrección. Conclusiones. La incidencia de hipoglucemia neonatal en la población estudiada no presentó diferencia según el tratamiento materno recibido. El estudio realizado fundamenta el control de la glucemia en estos niños en la práctica diaria.

Introduction. Neonatal hypoglycemia is a complication of gestational diabetes mellitus. Few studies have been conducted to support a systematic screening in the first hours of life of this population group. Objectives. To assess the association between the treatment administered to the mother (diet vs. insulin) and the development of hypoglycemia, and to identify associated risk factors. Population and methods. Observational, analytical, and retrospective study carried out at the Buenos Aires and San Justo maternal centers of a general, tertiary care hospital between 01-01-2017 and 12-31-2018. The incidence of neonatal hypoglycemia (≤ 47 mg/dL) based on the management of maternal diabetes was estimated and a multivariate analysis was done to assess related factors. Results. A total of 195 patients were included. No statistical difference was found in the incidence of hypoglycemia based on the treatment administered to the mother (45.3% vs. 39.7%; p = 0.45) and no associated risk factors were identified. Once the cutoff point was changed to ≤ 40 mg/dL, no differences were found in the incidence either (23.4% versus 19%, p = 0.48); however, patients with hypoglycemia had a significantly higher hematocrit level and a lower prevalence of exclusive breastfeeding upon discharge. Multivariate analysis showed an independent association between a high birth weight and hypoglycemia, requiring correction. Conclusions. The incidence of neonatal hypoglycemia in the studied population did not vary based on the treatment received by the mother. This study supports the control of glycemia in these infants in daily practice.

Perinatal Outcomes after Fetal Endoscopic Tracheal Occlusion for Isolated Congenital Diaphragmatic Hernia: Rapid Review / Resultados perinatais após oclusão traqueal endoscópica fetal por hérnia diafragmática congênita isolada: Revisão rápida

Abstract Objective To compare the perinatal outcomes of fetuses with isolated congenital diaphragmatic hernia after fetal endoscopic tracheal occlusion (FETO) and antenatal expectant management. Data sources In this rapid review, searches were conducted in the MEDLINE, PMC, EMBASE and CENTRAL databases between August 10th and September 4th, 2020. Randomized controlled trials (RCTs), quasi-RCTs or cluster-RCTs published in English in the past ten years were included. Study selection We retrieved 203 publications; 180 studies were screened by abstract. Full-text selection was performed for eight studies, and 1 single center RCTmet the inclusion criteria (41 randomized women; 20 in the FETO group, and 21 in the control group). Data collection Data collection was performed independently, by both authors, in two steps (title and abstract and full-text reading). Data synthesis There were no cases of maternal mortality. The mean gestational age at delivery was of 35.6±2.4 weeks in the intervention group, and of 37.4±1.9 weeks among the controls (p<0.01). Survival until 6 months of age was reported in 50% of the intervention group, and in 5.8% of the controls (p<0.01; relative risk: 10.5; 95% confidence interval [95%CI]: 1.5-74.7). Severe postnatal pulmonary hypertension was found in 50% of the infants in the intervention group, and in 85.7% of controls (p=0.02; relative risk: 0.6; 95%CI: 0.4-0.9). An analysis of the study indicated some concerns of risk of bias. The quality of evidence was considered moderate to low. Conclusion Current evidence is limited but suggests that FETO may be an effective intervention to improve perinatal outcomes.

Resumo Objetivo Comparar os resultados perinatais de fetos com hérnia diafragmática congênita após oclusão traqueal endoscópica fetal (OTEF) e conduta expectante pré-natal. Fontes dos dados Nesta revisão rápida, pesquisas foram conduzidas nas bases de dados MEDLINE, PMC, EMBASE e CENTRAL entre 10 de agosto de 2020 e 4 de setembro de 2020. Ensaios clínicos randomizados (ECRs), quase-ECRs e ECRs em cluster publicados em inglês nos últimos dez anos foram incluídos. Seleção dos estudos Foram recuperadas 203 publicações; 180 destas foram triadas pelo resumo. Fez-se a leitura do texto completo de 8 estudos, e 1 ECR cumpriu os critérios de inclusão (41 mulheres aleatorizadas; 20 no grupo OTEF e 21 no grupo de controle). Coleta de dados A coleta de dados realizada independentemente pelos dois autores, em duas etapas (título e resumo, e leitura do texto completo). Síntese dos dados Não houve casos de mortematerna. A idade gestacionalmédia no parto foi de 35,6±2,4 semanas no grupo de intervenção, e de 37,4±1,9 semanas entre os controles (p<0,01). A sobrevida até 6 meses de idade foi relatada em 50% do grupo de intervenção, e em 5,8% dos controles (p<0,01; risco relativo: 10,5; intervalo de confiança de 95% [IC95%]: 1,5-74,7). Hipertensão pulmonar grave ocorreu em 50% dos lactentes do grupo de intervenção, e em 85,7% dos controles (p = 0.02; risco relativo: 0,6; IC95%: 0,4-0,9). Uma análise do estudo indicou algumas preocupações quanto ao risco de viés. A qualidade da evidência foi considerada de moderada a baixa. Conclusão As evidências atuais são limitadas,mas sugeremque a OTEF pode ser uma intervenção eficaz para melhorar resultados perinatais.

Experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado / Experience of mothers after the diagnosis of congenital malformation and the expectations of care

RESUMO Objetivo compreender a experiência de mães após o diagnóstico de malformação congênita e as expectativas de cuidado da rede de saúde e social. Métodos pesquisa qualitativa com embasamento na Fenomenologia Social, com a participação de seis mães residentes em municípios de fronteira, por meio de entrevista semiestruturada. Resultados os relatos trouxeram informações sobre o diagnóstico de malformação congênita, a experiência da gravidez, o tornar-se mãe de criança com malformação e as expectativas de cuidado de saúde e social. Conclusão o grupo social estudado experienciou o diagnóstico de malformação com sofrimento, repercussões emocionais e com mudanças no cotidiano vivido. Contribuições para a prática: a comunicação por parte da equipe de saúde contribui para a compreensão e enfrentamento da malformação. Destacou-se a importância do apoio da rede familiar e social. É preciso desenvolver competências profissionais relacionadas à comunicação e a maiores investimentos para a formação e condições de trabalho que possibilitem maior tempo destinado ao atendimento deste público.

ABSTRACT Objective to understand the experience of mothers after the diagnosis of congenital malformation and the expectations of care from the health and social network. Methods qualitative research based on Social Phenomenology, with the participation of six mothers living in border towns, by means of semi-structured interviews. Results the reports brought information about the diagnosis of congenital malformation, the experience of pregnancy, becoming a mother of a child with malformation and the expectations of health and social care. Conclusion the social group studied experienced the diagnosis of malformation with suffering, emotional repercussions and changes in their daily lives. Contributions to practice: communication by the health team contributes to understanding and facing the malformation. The importance of the family and social network support was highlighted. It is necessary to develop professional skills related to communication and to make more investments in training and working conditions that allow more time for the care of this public.

Causes of abortion, stillbirth, and perinatal mortality in horses / Causas de aborto, natimortalidade e morte perinatal em equinos

Causes of abortion, stillbirth, and perinatal mortality in horses were investigated in the Department of Veterinary Pathology of the Federal University of Rio Grande do Sul (SPV-UFRGS) from 2000 to 2015. In this period, 107 cases were analyzed using macroscopic, microscopic, and complementary tests. Of these, 77 were aborted fetuses, 16 were stillbirths, and 14 were perinatal deaths. Conclusive diagnosis was established in 42.8% of the fetuses analyzed, with 28.6% classified as infectious origin, 9.1% as non-infectious, and 5.1% as other. Bacterial infections, especially those related to Streptococcus spp. were the most frequently observed. In stillborn foals, diagnosis was established in 62.5% of cases, and 50% of these were related to non-infectious causes, such as dystocia and birth traumas. As for perinatal mortality, a conclusive diagnosis was reached in 78.57% of cases, and infectious causes associated with bacterial infections accounted for 64.1% of these diagnoses.(AU)

Causas de aborto, natimortalidade e mortalidade perinatal em equinos foram investigadas no Setor de Patologia Veterinária da Universidade Federal do Rio Grande do Sul (SPV-UFRGS) durante o período de 2000 a 2015. Nesse período, foram analisados 107 casos através de exames macroscópico, microscópico e exames complementares, desses 77 correspondiam a fetos abortados, 16 natimortos e 14 mortes perinatais. Diagnóstico conclusivo foi estabelecido em 42,8% dos fetos analisados e classificados como origem infecciosa em 28,6% dos casos, não infecciosa com 9,1% e outros com 5,1% dos casos. As infecções bacterianas, em especial as relacionadas a Streptococcus spp. foram as mais frequentemente observadas. Em potros natimortos, diagnostico foi estabelecido em 62,5% dos casos, e destes, 50% foram relacionados a causas não infecciosas, como distocia e traumas durante o parto. Quanto a mortalidade perinatal, em 78,57% dos casos houve um diagnostico conclusivo, e as causas infecciosas associadas a infecções bacterianas corresponderam a 64,1% desses diagnósticos.(AU)

Causes of abortion, stillbirth, and perinatal mortality in horses / Causas de aborto, natimortalidade e morte perinatal em equinos

Causes of abortion, stillbirth, and perinatal mortality in horses were investigated in the Department of Veterinary Pathology of the Federal University of Rio Grande do Sul (SPV-UFRGS) from 2000 to 2015. In this period, 107 cases were analyzed using macroscopic, microscopic, and complementary tests. Of these, 77 were aborted fetuses, 16 were stillbirths, and 14 were perinatal deaths. Conclusive diagnosis was established in 42.8% of the fetuses analyzed, with 28.6% classified as infectious origin, 9.1% as non-infectious, and 5.1% as other. Bacterial infections, especially those related to Streptococcus spp. were the most frequently observed. In stillborn foals, diagnosis was established in 62.5% of cases, and 50% of these were related to non-infectious causes, such as dystocia and birth traumas. As for perinatal mortality, a conclusive diagnosis was reached in 78.57% of cases, and infectious causes associated with bacterial infections accounted for 64.1% of these diagnoses.

Causas de aborto, natimortalidade e mortalidade perinatal em equinos foram investigadas no Setor de Patologia Veterinária da Universidade Federal do Rio Grande do Sul (SPV-UFRGS) durante o período de 2000 a 2015. Nesse período, foram analisados 107 casos através de exames macroscópico, microscópico e exames complementares, desses 77 correspondiam a fetos abortados, 16 natimortos e 14 mortes perinatais. Diagnóstico conclusivo foi estabelecido em 42,8% dos fetos analisados e classificados como origem infecciosa em 28,6% dos casos, não infecciosa com 9,1% e outros com 5,1% dos casos. As infecções bacterianas, em especial as relacionadas a Streptococcus spp. foram as mais frequentemente observadas. Em potros natimortos, diagnostico foi estabelecido em 62,5% dos casos, e destes, 50% foram relacionados a causas não infecciosas, como distocia e traumas durante o parto. Quanto a mortalidade perinatal, em 78,57% dos casos houve um diagnostico conclusivo, e as causas infecciosas associadas a infecções bacterianas corresponderam a 64,1% desses diagnósticos.

Prevalencia y factores asociados al virus Zika en embarazadas / Prevalence and associated factors with Zika virus in pregnant women

La evidencia de epidemias e infecciones se manifestó en las Américas -destacando Panamá entre los países afectados-, África y otros lugares. En el año 2016 la Organización Mundial de la Salud (OMS) declaró una emergencia internacional por la presencia de casos de microcefalia y otros trastornos neurológicos en algunas áreas afectadas por el virus Zika. Actualmente se han notificado infecciones por este virus transmitidas por mosquitos en un total de 86 países y territorios. El presente artículo tiene como objetivo estimar la prevalencia e identificar los factores de riesgo del virus Zika en embarazadas de Panamá, como grupo vulnerable ante esta afección. Si la infección por el virus del Zika es mayormente leve en adultos, en las gestantes se deben temer riesgos fetales graves en los casos de infección en el primer trimestre del embarazo. Sin embargo, todavía no hay suficientes investigaciones que aporten datos científicos para conocer el alcance de este riesgo y las consecuencias precisas de una infección fetal(AU)

The evidence of epidemics and infections was manifested in the Americas -Panama standing out among the affected countries-, Africa and other places. In 2016, the world Health Organization (WHO) declared an international emergency due to the presence of cases of microcephaly and other neurological disorders in some areas affected by the Zika virus. Mosquito-borne infections with this virus have now been reported from a total of 86 countries and territories. The objective of this article is to estimate the prevalence and identify the risk factors of the Zika virus in pregnant women in Panama, as a vulnerable group to this disease. If Zika virus infection is mostly mild in adults, serious fetal risks should be feared in pregnant women in cases of infection in the first trimester of pregnancy. However, there is still not enough research that provides scientific data to know the extent of this risk and the precise consequences of a fetal infection(AU)

Reporte de malformaciones fetales diagnosticadas en comité ecográfico del Hospital Regional de Talca, entre junio 2020 y junio 2021 / Report of fetal malformations diagnosed in the ultrasound committee of the regional hospital of Talca, between june 2020 and june 2021

Introduction: Obstetric ultrasound is part of the screening to select the population at high risk of having a congenital malformation. Considering that fetal defects occur in approximately 2-4 out of every 100 live newborns, and are the cause of 35-40% of perinatal mortality in Chile, it is therefore justified to perform the second trimester ultrasound, which presents a high index prenatal screening (56%), with few false positives. Methods: A retrospective, cross-sectional and descriptive study was carried out, by reviewing 6,385 ultrasound scans, which were performed during one year (June 2020-June 2021), at the Regional Hospital of Talca, where 126 fetuses with suspected malformation were detected. Results: Of the total number of patients evaluated, a congenital malformation rate of 1.9% was detected, with cardiac malformations the most frequent, and diabetes mellitus the main risk factor. Conclusions: Antenatal ultrasound study is essential in the first and second trimesters of pregnancy, followed by a referral to an ultrasound committee, emphasizing early and interdisciplinary management. The frequencies found are similar to those reported in the international bibliography

Excessive prenatal supplementation of iodine and fetal goiter: report of two cases using three-dimensional ultrasound and magnetic resonance imaging / Suplementação pré-natal excessiva de iodo e bócio fetal: Relato de dois casos utilizando ultrassonografia tridimensional e ressonância magnética

Abstract Fetal thyroid complications in pregnancy are uncommon, and are commonly related to the passage of substances through the placenta. The excessive iodine intake during the pregnancy is a well-known mechanism of fetal thyroid enlargement or goiter, and invasive procedures have been proposed for the treatment of fetal thyroid pathologies. In the present report, we demonstrate two cases from different centers of prenatal diagnosis of fetal thyroid enlargement and/or goiter in three fetuses (one pair of twins, wherein both fetuses were affected, and one singleton pregnancy). The anamnesis revealed the ingestion of iodine by the patients, prescribed from inadequate vitamin supplementation. In both cases, the cessation of iodine supplement intake resulted in a marked reduction of the volume of the fetal thyroid glands, demonstrating that conservative treatmentmay be an option in those cases. Also, clinicians must be aware that patients may be exposed to harmful dosages or substances during pregnancy.

Resumo As complicações fetais da tireoide na gravidez são incomuns e são comumente relacionadas à passagem de substâncias pela placenta. A ingestão excessiva de iodo durante a gravidez é um mecanismo bem conhecido de aumento da tireoide ou bócio fetal, e procedimentos invasivos foram propostos para o tratamento de patologias da tireoide fetal. No presente relato de caso, demonstramos dois casos de diferentes centros de diagnóstico pré-natal de aumento da tireoide fetal e/ou bócio em três fetos (um par de gêmeos, em que ambos os fetos foram afetados, e uma gravidez única). A anamnese revelou a ingestão de iodo pelos pacientes prescrita por suplementação inadequada de vitaminas. Nos dois casos, a interrupção da ingestão de suplemento de iodo resultou em uma redução acentuada do volume das glândulas tireoides fetais, demonstrando que o tratamento conservador pode ser uma opção nestes casos. Além disso, os médicos devem estar cientes de que as pacientes podem ser expostas a doses ou substâncias nocivas durante a gravidez.

Intervención educativa en prevención preconcepcional de efectos embriofetales de la diabetes mellitus. Policlínico Universitario Carlos Verdugo, 2018-2019 / Educational intervention in preconceptional prevention of embryo fetal effects of diabetes mellitus. University Policlinic Carlos Verdugo, 2018-2019

RESUMEN Introducción: los efectos embriofetales derivados de la exposición a la diabetes mellitus, durante el período prenatal de la vida, se extienden a la etapa posnatal con importantes repercusiones para la salud, incluyendo el efecto transgeneracional de la enfermedad. Objetivo: evaluar la efectividad de una intervención educativa para incrementar el nivel de conocimientos en prevención preconcepcional de efectos embriofetales de la diabetes mellitus en mujeres en edad fértil, pertenecientes al Consultorio 1 del Policlínico Universitario Carlos Verdugo, del municipio Matanzas, entre enero de 2018 y diciembre de 2019. Materiales y métodos: se realizó un estudio de intervención que constó de tres etapas. Un universo de 198 mujeres en edad fértil pertenecientes al Consultorio 1 del Policlínico Universitario Carlos Verdugo, durante el período señalado. Se empleó la encuesta para medir factores de riesgo de diabetes mellitus y conocimientos de las féminas en prevención preconcepcional de los efectos embriofetales de la enfermedad. Resultados: la edad superior a 30 años y la presencia de sobrepeso u obesidad fueron los factores de riesgo más detectados. Resultó calificado de malo el nivel de conocimientos en prevención preconcepcional de efectos embriofetales de la diabetes, previo a la intervención. Conclusiones: después de la implementación del programa educativo, se elevó el conocimiento sobre prevención preconcepcional de efectos embriofetales de la diabetes mellitus en las mujeres en edad fértil del consultorio 1 del Policlínico Universitario Carlos Verdugo, del municipio Matanzas, lo que demostró su efectividad (AU).

ABSTRACT Introduction: the embryo-fetal effects derived of the exposition to diabetes mellitus during the prenatal period of the life, extend to the postnatal stage, with important repercussions for health, including the disease's transgenerational effect. Objective: to assess the effectiveness of an educational intervention for increasing knowledge on pre-conceptional prevention of embryo-fetal effects of diabetes mellitus in fertile-aged women belonging to Family Doctor's office 1, of the University Policlinic Carlos Verdugo, municipality of Matanzas, from January 2018 to December 2019. Materials and methods: an interventional study was carried out, divided into three stages. The universe were 198 fertile-aged women belonging to Family Doctor's office 1, of the University Policlinic Carlos Verdugo, during the stated period. A survey was used to measure diabetes mellitus risk factors and women's knowledge on pre-conceptional preventing the disease's embryo-fetal effects. Results: age over 30 and being overweight or obese were the most frequently found risk factors. The knowledge level on pre-conceptional preventing diabetes mellitus embryo-fetal effects was poor before the intervention. Conclusions: after implementing the educational program, knowledge on pre-conceptional prevention of diabetes mellitus embryo-fetal effects increased among fertile-aged women of the Family Doctor's 1, of the policlinic Carlos Verdugo, of the municipality of Matanzas, demonstrating its effectiveness (AU).

Epignathus with oropharynx destruction

Epignathus, is a rare oropharyngeal teratoma arising from the head and neck region. Sporadic cases have been described with associated intracerebral teratoma. Even more infrequent and extraordinary is the circumstance of a teratoma with oropharynx destruction. We describe the case of a fetus with pharyngeal mass that completely destroyed the oral cavity. The histological examination revealed an immature teratoma (G3); only one other G3 case has been described.

Application of whole exome sequencing technology in fetuses with congenital structural abnormalities / 中华医学遗传学杂志

OBJECTIVE@#To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.@*METHODS@#The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups.@*RESULTS@#A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history.@*CONCLUSION@#For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.

Fetal echocardiography indications and lack of association between abnormal exams and advanced maternal age: A cross-sectional study - Fetal abnormal echocardiography / Indicações para realização de ecocardiografia fetal e ausência de associação entre exames alterados e idade materna avançada: Um estudo transversal - Ecocardiografia fetal anormal

Abstract Objective To analyze the most frequent referrals for fetal echocardiography, including advanced maternal age and its association with abnormal results. Methods We included all pregnant women referred to perform fetal echocardiography (gestational age 22-32 weeks) in 2 health centers in Rio de Janeiro, from June 2015 to June 2016. Advanced maternal age was considered when age was > 35 years at the time of delivery). Referral reasons and results were recorded, according to the Brazilian Fetal Cardiology Statement. Crude and adjusted prevalence ratios were calculated (Poisson regression). We considered p < 0.05 as significant. Results A total of 1,221 tests were analyzed. Abnormal fetal echocardiography was observed in 14.82% of the cases. The most frequent abnormalities were interventricular septal defect (6.39%), septal hypertrophy (3.35%) and atrioventricular septal defect (1.14%). Routine exams were performed in 559 women, 289 were referred for advanced maternal age and 373 were referred according to the Brazilian FetalCardiology Statement criteria. An obstetric ultrasound suggesting fetal cardiacabnormality, maternal diabetes, increased nuchal translucency, and obstetric ultrasound suggesting a noncardiac abnormality were strongly associated with an abnormal fetal echocardiography. Abnormal results were not more frequent in women with advanced maternal age when compared with the rest of the study group. Conclusions It was observed that routine exams and advancedmaternal age referrals were very frequent. Those exams were not associated to fetal echocardiography abnormalities. In this scenario, when the obstetric ultrasound suggests a fetal cardiac

Resumo Objetivo Analisar as indicações mais frequentes para realização de ecocardiografia fetal, incluindo idade materna avançada, e a associação destas com exames alterados. Métodos Foram incluídas todas as gestantes que realizaram ecocardiografia fetal na idade gestacional entre 22 e 32 semanas, em 2 centros de referência no Rio de Janeiro, no período de junho de 2015 a junho de 2016. Foi considerada idadematerna avançada se no momento do parto a idade materna fosse> 35 anos. As indicações e os resultados dos exames foram registrados, segundo a Diretriz Brasileira de Cardiologia Fetal. Foramcalculadas as razões de prevalência brutas e ajustadas através da regressão de Poisson, considerando-se p < 0,05. Resultados Um total de 1.221 exames foram analisados. A frequência de exame ecocardiográfico alterado foi 14,82%. As alterações mais frequentes foram defeito do septo interventricular (6,39%), hipertrofia septal (3,35%) e defeito do septo atrioventricular (1,14%). Quinhentos e cinquenta e nove exames foram realizados com indicação de rotina, 289 por idade materna avançada e 373 preenchiam critério de acordo com a Diretriz Brasileira de Cardiologia Fetal. O exame ecocardiográfico alterado foi associado ao ultrassom obstétrico sugerindo cardiopatia fetal, ao diabetes materno, à translucência nucal aumentada e ao ultrassom obstétrico sugerindo alteração extracardíaca. Não foi observada maior frequência de exame ecocardiográfico alterado nas gestantes com idade materna avançada, comparado ao restante da amostra. Conclusão Constatou-se elevada frequência de indicações de rotina, e por idade materna avançada isoladamente, que não foram associados a alterações da ecocardiografia fetal. Em nosso meio, quando o ultrassom obstétrico sugere cardiopatia fetal, é muito provável que a ecocardiografia fetal tambémseja anormal. Portanto, o ultrassom obstétrico é um bom método de rastreio pré-natal.