Resultado a largo plazo de una serie de fetos con agenesia aislada del septum pellucidum / Long-term postnatal outcome of fetuses with isolated agenesis of the septum pellucidum

Objetivo: Reportar el resultado a largo plazo de una serie de fetos con agenesia del septum pellucidum aislada (ASP), con medición de su quiasma óptico mediante neurosonografía fetal (NSG). Método: Se incluyeron todas las pacientes con ASP y NSG evaluadas desde el año 2008 a la fecha y con seguimiento hasta su edad escolar. En todos los casos se consignaron los datos clínicos de NSG y de resonancia magnética (RM), cuando esta se realizó. Se entrevistó telefónicamente a los padres. Resultados: Nueve pacientes cumplieron los criterios: cuatro con displasia septo-óptica (DSO) (rango de seguimiento: 5-14 años) y cinco sin DSO (rango de seguimiento: 7-10 años). Un décimo caso se excluyó por tener solo 6 meses de seguimiento. Ninguna de las ASP tuvo otra anomalía detectada en su seguimiento. Ninguno de los casos con DSO tuvo alteración del tamaño de su quiasma óptico en la NSG ni anormalidad en la vía óptica en la RM. Conclusiones: En nuestra población, el riesgo residual de DSO frente a ASP es del 44,4%. En el seguimiento, nuestra definición de ASP por NSG no tuvo falsos negativos con relación a otras anomalías de aparición posnatal, a excepción de la DSO.

Objective: To report the long-term outcome of a series of fetuses with isolated septum pellucidum agenesis (ASP) with measurement of their optic chiasm by fetal neurosonography (NSG). Method: All patients with ASP and NSG evaluated from 2008 to date and with follow-up until their school age were included. In all cases, clinical, NSG and magnetic resonance imaging (MRI) data were recorded. Parents were interviewed by telephone. Results: Nine patients met the criteria: four with septo-optic dysplasia (SOD) (follow-up range: 5-14 years) and five without SOD (follow-up range: 7-10 years). A tenth case was excluded because only 6 months of follow-up. None of the ASP cases had another anomaly detected in their follow-up. None of the cases with DSO had anomaly of the size of their optic chiasm on NSG or abnormality in the optical pathway in the MRI. Conclusions: In our population, the residual risk of DSO versus ASP is 44.4%. At follow-up, our NSG definition of ASP had no false negatives in relation to other postnatal-onset anomalies, except for SOD.

Genotipificación del gen RHD en ADN fetal libre en plasma de embarazadas RhD negativo / Genotyping of the RHD gene in free fetal DNA in plasma of RhD negative pregnant women

Objetivo: Determinar el grupo RhD fetal a través del estudio del gen RHD en ADN fetal que se encuentra libre en plasma de embarazadas RhD negativo. Método: Se analizó la presencia de los genes RHD, SRY y BGLO en ADNfl obtenido de plasma de 51 embarazadas RhD negativo no sensibilizadas, utilizando una qPCR. Los resultados del estudio genético del gen RHD se compararon con el estudio del grupo sanguíneo RhD realizado por método serológico en muestras de sangre de cordón, y los resultados del estudio del gen SRY fueron cotejados con el sexo fetal determinado por ecografía. Se calcularon la sensibilidad, la especificidad, los valores predictivos y la capacidad discriminativa del método estandarizado. Resultados: El gen RHD estaba presente en el 72,5% de las muestras y el gen SRY en el 55,5%, coincidiendo en un 100% con los resultados del grupo RhD detectado en sangre de cordón y con el sexo fetal confirmado por ecografía, respectivamente. Conclusiones: Fue posible deducir el grupo sanguíneo RhD del feto mediante el estudio del ADN fetal que se encuentra libre en el plasma de embarazadas con un método molecular no invasivo desarrollado y validado para este fin. Este test no invasivo puede ser utilizado para tomar la decisión de administrar inmunoglobulina anti-D solo a embarazadas RhD negativo que portan un feto RhD positivo.

Objective: To determine the fetal RhD group through the study of the RHD gene in fetal DNA found free in plasma of RhD negative pregnant women. Method: The presence of the RHD, SRY and BGLO genes in fetal DNA obtained from plasma of 51 non-sensitized RhD negative pregnant women was analyzed using qPCR. The results of the genetic study of the RHD gene were compared with the RhD blood group study performed by serological method in cord blood samples, and the results of the SRY gene study were compared with the fetal sex determined by ultrasound. Sensitivity, specificity, predictive values and discriminative capacity of the standardized method were calculated. Results: The RHD gene was present in 72.5% of the samples and the SRY gene in 55.5%, coinciding 100% with the results of the RhD group detected in cord blood, and with the fetal sex confirmed by ultrasound, respectively. Conclusions: It was possible to deduce the RhD blood group of the fetus through the study of fetal DNA found free in the plasma of pregnant women with a non-invasive molecular method developed and validated for this purpose. This non-invasive test can be used to make the decision to administer anti-D immunoglobulin only to RhD-negative pregnant women carrying an RhD-positive fetus.

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.

Percepção sobre o cuidado à perda gestacional: estudo qualitativo com casais brasileiros / Perceptions on pregnancy loss care: a qualitative study with brazilian couples / Percepción sobre la atención a la pérdida del embarazo: estudio cualitativo con parejas brasileñas

Este artigo analisou a percepção e os sentimentos de casais sobre o atendimento recebido nos serviços de saúde acessados em função de perda gestacional (óbito fetal ante e intraparto). O convite para a pesquisa foi divulgado em mídias sociais (Instagram e Facebook). Dos 66 casais que contataram a equipe, 12 participaram do estudo, cuja coleta de dados ocorreu em 2018. Os casais responderam conjuntamente a uma ficha de dados sociodemográficos e uma entrevista semiestruturada, realizada presencialmente (n=4) ou por videochamada (n=8). Os dados foram gravados em áudio e posteriormente transcritos. A Análise Temática indutiva das entrevistas identificou cinco temas: sentimento de impotência, iatrogenia vivida nos serviços, falta de cuidado em saúde mental, não reconhecimento da perda como evento com consequências emocionais negativas, e características do bom atendimento. Os achados demonstraram situações de violência, comunicação deficitária, desvalorização das perdas precoces, falta de suporte para contato com o bebê falecido e rotinas pouco humanizadas, especialmente durante a internação após a perda. Para aprimorar a assistência às famílias enlutadas, sugere-se qualificação profissional, ampliação da visibilidade do tema entre diferentes atores e reorganização dos serviços, considerando uma diretriz clínica para atenção ao luto perinatal, com destaque para o fortalecimento da inserção de equipes de saúde mental no contexto hospitalar.(AU)

This study analyzed couples' perceptions and feelings about pregnancy loss care (ante and intrapartum fetal death). A research invitation was published on social media (Instagram and Facebook) and data collection took place in 2018. Of the 66 couples who contacted the research team, 12 participated in the study by filling a sociodemographic questionnaire and answering a semi-structured interview in person (n=04) or by video call (n=08). All interviews were audio recorded, transcribed, and examined by Inductive Thematic Analysis, which identified five themes: feelings of impotence, iatrogenic experiences in health services, lack of mental health care, not recognizing pregnancy loss as an emotionally overwhelming event, and aspects of good healthcare. Analysis showed experiences of violence, poor communication, devaluation of early losses, lack of support for contact with the deceased baby, and dehumanizing routines, especially during hospitalization after loss. Professional qualification, extended pregnancy loss visibility among different stakeholders, and reorganization of health services are needed to improve the care offered to grieving families, considering a clinical guideline for perinatal grief care with emphasis on strengthening the insertion of mental health teams in the hospital context.(AU)

Este estudio analizó las percepciones y sentimientos de parejas sobre la atención recibida en los servicios de salud a los que accedieron debido a la pérdida del embarazo (muerte fetal ante e intraparto). La invitación al estudio se publicó en las redes sociales (Instagram y Facebook). De las 66 parejas que se contactaron con el equipo, 12 participaron en el estudio, cuya recolección de datos se realizó en 2018. Las parejas respondieron un formulario de datos sociodemográficos y realizaron una entrevista semiestructurada presencialmente (n=4) o por videollamada (n=08). Los datos se grabaron en audio para su posterior transcripción. El análisis temático inductivo identificó cinco temas: Sentimiento de impotencia, experiencias iatrogénicas en los servicios, falta de atención a la salud mental, falta de reconocimiento de la pérdida como un evento con consecuencias emocionales negativas y características de buena atención. Los hallazgos evidenciaron situaciones de violencia, comunicación deficiente, desvalorización de las pérdidas tempranas, falta de apoyo para el contacto con el bebé fallecido y rutinas poco humanizadas, especialmente durante la hospitalización tras la pérdida. Para mejorar la atención a las familias en duelo, se sugiere capacitación profesional, ampliación de la visibilidad del tema entre los diferentes actores y reorganización de los servicios, teniendo en cuenta una guía clínica para la atención del duelo perinatal, enfocada en fortalecer la inserción de los equipos de salud mental en el contexto hospitalario.(AU)

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.

Clinical characteristics of cardiac defects fetuses and the impact of multi-disciplinary team cooperation approach on the pregnancy decision making / 中华妇产科杂志

Objective: To analysis the clinical characteristics of 400 fetuses with heart defects and the impactors of pregnancy decision making, and explore the influence of a multi-disciplinary team (MDT) cooperation approach on it. Methods: Clinical data of 400 fetuses with abnormal cardiac structure diagnosed at Peking University First Hospital from January 2012 to June 2021 were collected, which were divided into 4 groups according to the characteristics of fetal heart defects and the presence of extracardiac abnormalities or not: single cardiac defects without extracardiac abnormalities (122 cases), multiple cardiac defects without extracardiac abnormalities (100 cases), single cardiac defects with extracardiac abnormalities (115 cases), and multiple cardiac defects with extracardiac abnormalities (63 cases). The types of fetal cardiac structural abnormalities and genetic test results, and the detection rate of pathogenic genetic abnormalities, MDT consultation and management situation, and pregnancy decision of fetuses in each group were retrospectively analyzed. A logistics regression was used to analyze the influencing factors of fetal heart defects pregnancy decision. Results: (1) Among the 400 fetal heart defects, the four most common major types were ventricular septal defect 96 (24.0%, 96/400), tetralogy of Fallot 52 (13.0%, 52/400), coarctation of the aorta 34 (8.5%, 34/400), and atrioventricular septal defect 26 (6.5%, 26/400). (2) Among the 204 fetuses undergoing genetic examination, 44 (21.6%, 44/204) pathogenic genetic abnormalities were detected. (3) Detection rate of pathogenic genetic abnormalities (39.3%, 24/61) and pregnancy termination rate (86.1%, 99/115) in the single cardiac defects with extracardiac abnormalities group were significantly higher than those in the single cardiac defects without extracardiac abnormalities group [15.1% (8/53), 44.3% (54/122), respectively] and the multiple cardiac defects without extracardiac abnormalities group [6.1% (3/49), 70.0% (70/100), respectively, both P<0.05], and the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group and the multiple cardiac defects with extracardiac abnormalities group (82.5%,52/63) were significantly higher than that of the single cardiac abnormalities without extracardiac abnormalities group (both P<0.05). (4) After adjusting for age, gravity, parity and performed prenatal diagnosis, maternal age, the diagnosis of gestational age, prognosis grades, co-existence of extracardiac abnormalities, presence of pathogenic genetic abnormalities, and receiving MDT consultation and management were still independent influencing factors of termination of pregnancy of fetuses with cardiac defects (all P<0.05). A total of 29 (7.2%, 29/400) fetal cardiac defects received MDT consultation and management, and compared with those without MDT management, the pregnancy termination rate in the multiple cardiac defects without extracardiac abnormalities group [74.2%(66/89) vs 4/11] and the multiple cardiac defects with extracardiac abnormalities group [87.9%(51/58) vs 1/5] were lower, the differences were statistically significant respectively (all P<0.05). Conclusions: Maternal age, diagnosed gestational age, severity of cardiac defects, extracardiac abnormalities, pathogenic genetic abnormalities and MDT counseling and management are the influencing factors of fetal heart defects pregnancy decision. MDT cooperation approach influences pregnancy decision-making and should be recommended for the management of fetal cardiac defect to reduce unnecessary termination of pregnancy and improve pregnancy outcomes.

Analysis of MYRF gene variant in a fetus with Cardiac-urogenital syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus with Cardiac-urogenital syndrome (CUGS).@*METHODS@#A fetus with congenital heart disease identified at the Maternal Fetal Medical Center for Fetal Heart Disease, Beijing Anzhen Hospital Affiliated to Capital Medical University in January 2019 was selected as the study subject. Clinical data of the fetus was collected. Copy number variation sequencing (CNV-seq) and trio-whole exome sequencing (trio-WES) were carried out for the fetus and its parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Detailed fetal echocardiographic examination had revealed hypoplastic aortic arch. The results of trio-WES revealed that the fetus has harbored a de novo splice variant of the MYRF gene (c.1792-2A>C), for which both parents were of the wild-type. Sanger sequencing confirmed the variant to be de novo. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CNV-seq has identified no chromosomal anomalies. And the fetus was diagnosed with Cardiac-urogenital syndrome.@*CONCLUSION@#The de novo splice variant of the MYRF gene probably underlay the abnormal phenotype in the fetus. Above finding has enriched the spectrum of MYRF gene variants.

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.

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.

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

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.

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)

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.

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.

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