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Introducción: El amniocele es una hernia del saco amniótico a través de un defecto en la pared del útero, el cual puede deberse a ruptura uterina, secundario a daños preexistentes, anomalías uterinas o en un útero sin cicatrices. Caso clínico: Presentamos el caso de una paciente de 37 años, con antecedente de dos partos por cesárea, a quien en la semana 25,5 de embarazo se le diagnostica por ecografía amniocele en la pared anterior de útero contenido por la vejiga, además de signos ecográficos de acretismo placentario. La posterior realización de resonancia magnética confirma el diagnóstico. Se realiza manejo expectante con estancia continua intrahospitalaria estricta. Resolución obstétrica a las 34 semanas por cesárea, con extracción fetal por fondo uterino sin complicaciones, con posterior realización de histerectomía con placenta in situ. Conclusiones: Este reporte de caso ilustra la importancia de la identificación temprana de esta condición por ser una complicación infrecuente, pero de grave pronóstico fetomaterno en ausencia de atención inmediata.

Introduction: Amniocele is a hernia of the amniotic sac through a defect in the uterine wall, which can be caused by uterine rupture secondary to preexisting damage, uterine anomalies, or a scarless uterus. Case report: We present a case of a 37-year-old patient with a history of two previous cesarean deliveries. At 25.5 weeks of gestation, the diagnosis of amniocele in the anterior uterine wall, contained by the bladder, along with ultrasound signs of placenta accreta, was confirmed through ultrasound. Subsequent magnetic resonance imaging further confirmed the diagnosis. Expectant management with strict continuous intrahospital stay was implemented. Obstetric resolution was achieved at 34 weeks through cesarean delivery, with uncomplicated fetal extraction through the uterine fundus. Subsequently, a hysterectomy was performed with the placenta left in situ. Conclusions: This case report illustrates the importance of early identification of this condition due to its infrequent but serious feto-maternal prognosis in the absence of immediate attention.

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OBJECTIVE: To describe the texture characteristics in several anatomical structures within fetal ultrasound images by applying an image segmentation technique through an application developed in MATLAB mathematical processing software. METHODS: Prospective descriptive observational study with an analytical component. 2D fetal ultrasound images were acquired in patients admitted to the Maternal Fetal Medicine Unit of the Hospital de San José, Bogotá-Colombia. These images were loaded into the developed application to carry out the segmentation and characterization stages by means of 23 numerical texture descriptors. The data were analyzed with central tendency measures and through an embedding process and Euclidean distance. RESULTS: Forty ultrasound images were included, characterizing 54 structures of the fetal placenta, skull, thorax, and abdomen. By embedding the descriptors, the differentiation of biologically known structures as distinct was achieved, as well as the non-differentiation of similar structures, evidenced using 2D and 3D graphs and numerical data with statistical significance. CONCLUSION: The texture characterization of the labeled structures in fetal ultrasound images through the numerical descriptors allows the accurate discrimination of these structures.

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Se llama hidrotórax a una efusión pleural primaria que ocurre durante la vida prenatal (denominado 'quilotórax primario' después del nacimiento). En ciertos casos, esta efusión es severa y produce compresión pulmonar y cardiaca, por lo cual, la mortalidad perinatal sigue siendo alta. Los recién nacidos con hidrotórax requieren, muchas veces, de drenaje, nutrición parenteral total y medicación específica para su recuperación. Sin embargo, las intervenciones prenatales, principalmente con derivaciones toraco-amnióticas, pueden mejorar estos resultados. Reportamos el caso de un feto con hidrotórax severo a quien se le realizó una toracocentesis y revisamos la literatura acerca de su rol en el tratamiento prenatal actual.

Hydrothorax is a primary pleural effusion that occurs during prenatal life (called "primary chylothorax" after birth). In certain cases, this effusion is severe and produces pulmonary and cardiac compression, and perinatal mortality remains high. Newborns with hydrothorax often require drainage, total parenteral nutrition and specific medication for their recovery. However, prenatal interventions, mainly with thoraco-amniotic shunts, can improve these results. We report the case of a fetus with severe hydrothorax who underwent thoracentesis and review the literature on its role in current prenatal management.

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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.

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Abstract Objectives: to evaluate the effects of nifedipine with tocolysis under maternal and fetal parameters. Methods: a cohort study with 40 pregnant women admitted at a high-risk pregnancy ward to inhibit premature labor between September/2010 to May/2012. Nifedipine was used as a 20mg sublingual attack dose and maintained 20mg every six and eight hours orally. The variables of the analysis were fetal heart rate (FHR), maternal heart rate (MHR), systolic blood pressure (SBP) and diastolic blood pressure (DBP), and amniotic fluid index (AFI). All the variables were evaluated prior to administrating nifedipine and approximately after 6 hours and every 24 hours, until hospital discharge. Results: there were no modification of the FHR (p=0.48) and the SBP (p=0.29). The MHR increased after 24 hours, but with no statistical difference (p=0.08), returning to similar levels as at admission within 48 hours. The DBP decreased at 6 (p=0.04) to 72 hours, being stable afterwards. The AFI decreased significantly at 24, 48 and 72 hours. Conclusions: the use of high doses of nifedipine with tocolysis causes a decrease of the maternal's diastolic blood pressure and consequently decreases the amniotic fluid index, but probably without any clinical repercussions.

Resumo Objetivos: avaliar os efeitos da nifedipina utilizada na tocólise sobre os parâmetros maternos e fetais. Métodos: estudo de coorte incluindo 40 gestantes admitidas na enfermaria de alto risco para inibição do trabalho de parto prematuro entre setembro/2010 a maio/2012. Utilizou-se a nifedipina sublingual na dose de ataque de 20mg e uma manutenção de 20mg por via oral a cada seis e oito horas. As variáveis avaliadas foram os batimentos cardio-fetais (BCF), frequência cardíaca materna (FCM), pressão arterial sistólica (PAS) e diastólica (PAD) e índice de líquido amniótico (ILA). Todas as variáveis foram avaliadas antes da administração da nifedipina e aproximadamente após 6h e cada 24h até alta hospitalar. Resultados: não houve modificação dos BCF (p=0,48) e da PAS (p=0,29). A FCM aumentou após 24h, mas sem significância estatística (p=0,08) retornando a níveis similares ao da admissão com 48h. A PAD diminuiua partir de 6h (p = 0,04)até 72h, mantendo-se constante. O ILA diminuiu significativamente em 24h, 48h e 72h. Conclusão: a utilização de altas doses de nifedipina para tocóliseocasio na diminuição dos níveis pressóricos diastólicos maternos e consequentemente diminuição do ILA, mas provavelmente sem repercussões clínicas.

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Abstract Objective To develop reference curves of estimated fetal weight for a local population in Curitiba, South of Brazil, and compare them with the curves established for other populations. Methods An observational, cross-sectional, retrospective study was conducted. A reference model for estimated fetal weight was developed using a local sample of 2,211 singleton pregnancies with low risk of growth disorders and well-defined gestational age. This model was compared graphically with the Hadlock and Intergrowth 21st curves. Results Reference curves for estimated fetal weight were developed for a local population. The coefficient of determination was R2 = 99.11%, indicating that 99.11% of the fetal weight variations were explained by the model. Compared with Hadlock curves, the 50th, 90th, and 97th percentiles in this model were lower, whereas the 10th percentile nearly overlapped, and the 3rd percentile was slightly higher in the proposed model. The percentiles were higher in the proposed model compared with the Intergrowth 21st curves, particularly for the 3rd, 10th, and 50th percentiles. Conclusion We provide a local reference curve for estimated fetal weight. The proposed model was different from other models, and these differences might be due to the use of different populations for model construction.

Resumo Objetivo Desenvolver curvas de referência para o peso fetal estimado em uma população de Curitiba, Sul do Brasil, e compará-las com curvas estabelecidas para outras populações. Métodos Foi realizado um estudo observacional, transversal e retrospectivo. Um modelo de referência para o peso fetal estimado foi desenvolvido usando uma amostra local de 2.211 gestações únicas de baixo risco de distúrbios do crescimento e idade gestacional bem definida. Este modelo foi comparado graficamente com as curvas de Hadlock e Intergrowth 21st. Resultados As curvas de referência para o peso fetal estimado foram desenvolvidas para uma população local. O coeficiente de determinação foi de R2 = 99,11%, indicando que 99,11% das variações do peso fetal foram explicadas pelo modelo. Em comparação com as curvas de Hadlock, os percentis 50, 90, e 97 neste modelo foram inferiores, enquanto o percentil 10 quase se sobrepôs, e o percentil 3 foi ligeiramente superior no modelo proposto. Os percentis foram maiores no modelo proposto em comparação com as curvas do Intergrowth 21st, particularmente para os percentis 3, 10, e 50. Conclusão Fornecemos uma curva de referência local para o peso fetal estimado. O modelo proposto foi diferente de outros modelos, e essas diferenças podem ser devido ao uso de diferentes populações para a construção do modelo.

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Ultrasound has been used since the 1950s as a useful tool for the screening of several pregnancy abnormalities. The National Institute for Excellence in Health and Care (NICE) guidelines for prenatal control recommend its routine use between 12 and 20 weeks of gestational age, given that during the first trimester, a series of very frequent markers that determine a high risk of fetal anomalies can be evaluated. Among these markers, the most frequently studied are: increased nuchal translucency, the absence of nasal bones, increased tricuspid regurgitation, and altered flow in the venous duct. There is also a new ultrasound technique consisting of the evaluation of the retronasal triangle view, which captures the coronal plane of the face in which the primary palate and the frontal process of the maxillary are simultaneously visualized, presenting high sensitivity and specificity for malformations such as oropalatine clefts, malformations of the nasal bones, and micrognathia. The purpose of this article is to make a comprehensive review of first trimester sonographic diagnosis of orofacial defects.

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Introduction: First trimester screening has been performed for over 19 years in Peru, but there is no information on the outcomes. Objective: To determine the prognosis of an increased fetal nuchal thickness (NT). Patients: Ultrasound assessment of fetal nuchal thickness in 10 340 consecutive fetuses, 11 to 13 weeks gestation. Interventions. Fetal screening was performed by nine sonographers accredited by the Fetal Medicine Foundation (FMF); the FMF recommendations were followed. Data were recorded using Astraia software. Results: Thirty-seven (0.36%) fetuses presented NT ≥ 5.5mm. Eight patients were lost to follow up. The remaining 29 cases were included in this report. Prenatal karyotyping was performed in 18 cases; 17 of them were abnormal and presented trisomy 21 (7), trisomy 18 (4), monosomy X (5), and trisomy 22 (1). Four of the seven cases of trisomy 21 were born at term without major anomalies. Eleven did not have prenatal testing; one of them was a healthy newborn at term, the remaining 10 died in utero. Seventeen of the 19 known karyotypes were abnormal, which significantly differs from Kagan's results (89% vs 64%, p<0.05) Conclusion: Fetuses with nuchal translucency ≥ 5.5mm in our institution presented a worse prognosis in significantly more cases, compared to other reports.

Introducción. El tamizaje ecográfico del primer trimestre se realiza en el Perú desde hace 19 años, pero se carece de información del seguimiento de las pacientes evaluadas. Objetivos. Determinar el pronóstico de una translucencia nucal (TN) muy aumentada en el feto. Diseño. Estudio retrospectivo observacional. Pacientes. Se evaluó 10 340 fetos consecutivos entre las 11 y 13 semanas, en madres que llegaron al servicio de ecografía. Intervenciones. Evaluación por nueve ecografistas acreditados por la Fetal Medicine Foundation (FMF) siguiendo las recomendaciones de la FMF. Los resultados fueron registrados en el software Astraia. Resultados. Treintaisiete (0,36%) pacientes tuvieron TN ≥ 5,5 mm; ocho no regresaron a la institución y se desconoce el desenlace de su embarazo, por lo que no fueron considerados en el análisis posterior. De los 29 reportados, en 18 se realizó cariotipo prenatal, 17 de ellos fueron anormales (7 trisomías 21; 4 trisomías 18; 5 monosomías X; una trisomía 22). Cuatro de los 7 fetos con trisomía 21 nacieron a término sin malformaciones importantes; uno falleció durante el embarazo, otro embarazo fue interrumpido en el extranjero y se desconoce el desenlace de un caso. De los 11 que no se realizaron cariotipo prenatal, uno (3,2%) nació vivo y sano y los otros 10 fallecieron durante el embarazo. Diecisiete cariotipos de 19 conocidos fueron anormales, lo que difiere significativamente de los resultados de Kagan (89% vs 64%, p<0,05). Conclusiones. El pronóstico de los fetos con TN ≥5,5 mm en nuestra institución fue significativamente peor que el publicado en la literatura.

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A Restrição de Crescimento Fetal (RCF) é definida como uma incapacidade do feto em alcançar seu potencial de crescimento, afeta 5-10% das gestações e está associada à alta morbimortalidade fetal e neonatal, principalmente a danos neurológicos. O objetivo dessa revisão foi levantar os estudos sobre a alteração cerebral nos fetos com RCF que possam estar relacionados aos danos neurológicos pós-natais já estabelecidos. Nesses fetos, há um crescimento desigual das estruturas cerebrais e reconhece-se que, na dependência de hipoxemia crônica e privação de nutrientes provocados pela insuficiência placentária, o feto tende a preferenciar o fluxo sanguíneo para o cérebro em detrimento de outros órgãos. Os resultados dessa revisão sugerem que o efeito protetor do aumento da perfusão sanguínea cerebral é diferente em cada estágio de deterioração fetal, propondo uma ordem hierárquica na proteção das diferentes funções/áreas cerebrais, e quanto mais severo esse acometimento, maiores mudanças estruturais cerebrais o feto apresentará.(AU)

Fetal growth restriction is defined as an inability of the fetus to reach its growth potential, affects 5-10% of pregnancies and is associated with high fetal and neonatal morbidity and mortality, mainly neurological damage. The aim of this review was to investigate brain alterations in fetus with fetal growth restriction that may be related to the already established postnatal neurological damage. In these fetus there is an uneven growth of the brain structures and it is recognized that in dependence on chronic hypoxemia and nutrient deprivation caused by placental insufficiency, the fetus tends to prefer the blood flow to the brain in detriment of other organs. The results of this review suggest that the protective effect of increased cerebral blood perfusion is different at each stage of fetal deterioration, proposing a hierarchical order in the protection of the different brain functions / areas and more severe this involvement, bigger structural changes the fetus will present.(AU)

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Introduction. The combined first-trimester screening test is the international recommendation for prenatal screening of trisomy 21. The combined plus screening test adds one or more ultrasound markers (ductus venosus, tricuspid flow, nasal bone). The contingent test is a two-step protocol of risk assessment that considers all markers only as a contingency in the group with an inconclusive result. Objective: Assessment of the performance of the Kagan biochemical contingent protocol in our population. Methods. All pregnant women between 11 and 13 weeks attended in our unit were assessed with the first-trimester combined plus screening test. We followed the Fetal Medicine Foundation published quality criteria and the International Society of Ultrasound in Obstetrics and Gynaecology guidelines. Results 2 578 single pregnancies were assessed; the foetuses were classified by an initial ultrasound evaluation; 37 (1,4%) presented high risk (≥ 1/50), 1 888 low risk (<1/1 000) and 653 intermediate risk (between 1/51 and 1/1 000). Contingent PAPP-a and free beta-hCG were recommended to pregnant women with intermediate risk. 46 (1,8%) other foetuses were classified at high risk for trisomy 21 following biochemical testing. All trisomy 21 foetuses in our cohort were among them. Pregnant women over the age of 36 (at ultrasound date) or 38 (at term) were considered with basal high risk (BHR basal risk ≥ 1/200), since all of them needed biochemical testing. Conclusions: Our results validated Kagan's protocol. The false positive rate and the size of the intermediate risk subgroup would depend on the maternal age distribution.

Introducción. El tamizaje combinado es la recomendación internacional para el tamizaje prenatal de trisomía 21 en el primer trimestre. El test combinado ampliado agrega uno o más marcadores ecográficos (ducto venoso, flujo tricuspídeo y osificación del hueso nasal). La variedad contingente consiste en dividir la evaluación en dos etapas y usar todos los marcadores solo como contingencia en el grupo con resultado dudoso. Objetivo. Demostrar la efectividad del protocolo de bioquímica contingente propuesto por Kagan. Métodos. Se aplicó el test combinado ampliado en variedad contingente a todas las gestantes con embarazos únicos que acudieron al servicio entre las semanas 11 y 13. Se siguió los criterios publicados por la Fetal Medicine Foundation y la International Society of Ultrasound in Obstetrics and Gynecology. Resultados. Se evaluó 2 578 fetos de embarazos únicos. La evaluación ecográfica inicial identificó 37 (1,4%) fetos con riesgo de 1/50 o mayor (riesgo alto), 1 888 fetos con riesgo menor a 1/1 000 (riesgo bajo) y 653 fetos con riesgo entre 1/51 y 1/1 000 (riesgo intermedio). Como contingencia, al grupo de fetos con riesgo intermedio se les indicó las pruebas bioquímicas (PAPP-a y hCG) que seleccionaron otros 46 (1,8%) fetos con riesgo alto de trisomía 21. Los seis fetos con trisomía 21 en la cohorte estuvieron en el grupo de riesgo alto. Se identificó una población de riesgo basal alto (RBA) (mayores de 36 o 38 años, dependiendo si el riesgo es evaluado en el momento de la ecografía o a término) de trisomía 21, en las cuales no es aplicable el modelo contingente, ya que todas requieren las pruebas bioquímicas. Conclusiones. Nuestros resultados validan el modelo propuesto por Kagan. La tasa de falsos positivos y el tamaño del grupo de riesgo intermedio dependerá de la distribución de la edad materna.

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INTRODUCCIÓN: el diagnóstico prenatal de las cardiopatías congénitas, con nacimiento en centros especializados, permite disminuir la morbimortalidad. Se ha desarrollado un modelo predictivo de necesidad de tratamiento cardíaco intervencionistaneonatal (TCIN) (cirugía cardiovascular y/o cateterismo cardíacoterapéutico) a partir de hallazgos en vistas ecográficas de pesquisa del corazón fetal. Con este modelo sería posible seleccionar a quienes requieren derivación prenatal. OBJETIVOS: Validar dicho modelo predictivo. MÉTODOS: Se llevó a cabo un estudio de cohorte de validación, prospectivo y multicéntrico. Se realizó análisis de regresión logística univariado y multivariado, valoración de calibración del modelo mediante test de Hosmer-Lemeshow, y de discriminaciónmediante valoración de área bajo la curva ROC (Receiver OperatingCharacteristic). RESULTADOS: En 58 (51,8%) de 112 pacientes incluidos se requirió TCIN. La adecuación del ajuste del modelo no resultó estadísticamente significativa (p 0,232), y la discriminación fue buena (área bajo la curva ROC 0,833; IC95%: 0,757-0,909). Para un punto de corte de 0,3 (a partir del cual el riesgo de necesidad de TCIN resultó significativo en el modelo original), hubo sensibilidad de 96,6%, especificidad de 55,6%, valor predictivo positivo de 70% y negativo de 93,8%. CONCLUSIONES: La aplicación del modelo estudiado en fetos con cardiopatías congénitas es factible, presenta una capacidad diagnóstica satisfactoria y constituye una herramienta útil para el manejo perinatal.

INTRODUCTION: prenatal diagnosis of congenital heart diseases allows timely in-utero referral to specialized centersand reduces the risk of morbidity and mortality. A model was developed to predict the need of neonatal cardiac surgery or catheter-based therapy in fetuses with congenital heart defects.With this model, based on fetal cardiac ultrasonographic findings, it would be possible to select patients in need of prenatal referral. OBJECTIVES: To validate such predictive model. METHODS: A prospective multicenter cohort validation study was conducted.Univariate and multivariate logistic regression analysis was performed, evaluating calibration by Hosmer-Lemeshow test and discrimination by area under the curve (AUC) of the receiver operating characteristic (ROC). RESULTS: In 58 (51.8%) of the 112 patients, neonatal cardiac surgery or catheter-based therapy was needed. There was no significant difference between observed and predicted event rates (p 0.232), and discrimination wassatisfactory (AUC of the ROC 0.833; CI95%: 0.757-0.909). For a cut-off probability of 0.3 (that showed significant risk of need for neonatal cardiac invasive therapy in the original model), sensitivity was 96.6%, specificity 55.6%, positive predictive value 70% and negative predictive value 93.8%. CONCLUSIONS: Theapplication of this predictive model in fetuses with congenital heart defects is feasible, shows a good diagnostic ability and can be a useful tool for perinatal management.

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El onfalocele es un defecto de la pared abdominal a nivel de la línea media caracterizado por la herniación de contenido abdominal y recubierto por peritoneo y amnios. El objetivo de esta comunicación es presentar un caso de onfalocele con edad gestacional de 23 sem y su diagnóstico prenatal por ultrasonografía. Mediante diagnóstico ecográfico en una pesquisa realizada a una paciente de 40 años de edad en el segundo trimestre (edad gestacional de 23 semanas), mostró a nivel de la pared anterior fetal imagen ecogénica que protruye a través de la pared abdominal y a continuación se localiza el cordón umbilical. Se observó estómago desplazado y pérdida de la anatomía normal de la circunferencia abdominal. Se realizó asesoramiento genético en el Centro Municipal de Genética de Manzanillo. Anatomopatológicamente el feto presentó cuello corto y ancho, orejas de implantación baja, defecto del cierre del conducto onfalomesentérico, saco herniario ocupado por el lóbulo cuadrado del hígado y lecho vesicular, corazón con base ancha que muestra a la disección cava-cava, ausencia de tabique interventricular, estenosis de la válvula pulmonar y dilatación supravalvular de la arteria pulmonar, defecto amplio del tabique intraventicular y aorta cabalgada, lo que habla a favor de una cardiopatía troncoconal del tipo trilogía de Fallop, más el onfalocele. El diagnóstico prenatal por ultrasonografía es un método eficaz y fiable para el diagnóstico prenatal de onfalocele.

Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient pesquiza made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Anatomopatolágicamente the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele.

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Antecedentes: Las anomalías congénitas mayores (ACM) están presentes en el 2-3 por ciento de los nacidos vivos. La mayoría de ellas diagnosticables mediante ecografía prenatal (EcoPN). Los países en desarrollo presentan inequidades en el acceso al procedimiento. Objetivos: Determinar las inequidades existentes en la realización de EcoPN en las madres de recién nacidos (RN) con ACM hospitalizados en dos unidades de cuidado intensivo neonatal (UCIN) e identificar las inequidades en el diagnóstico de ACM en las madres a quienes les fue realizada al menos una EcoPN. Métodos: Estudio transversal en RN con ACM diagnosticables por EcoPN, hospitalizados en dos UCIN de Cali, Colombia, entre 2005 y 2009. Se determinó el índice de concordancia (kappa) entre variables sociodemográficas y el diagnóstico de ACM prenatal y definitivo. Se determinaron las asociaciones entre ausencia de EcoPN y del diagnóstico de ACM con factores sociodemográficos y aseguramiento en salud. Resultados: Se incluyeron 404 casos que presentaron 573 anomalías congénitas. El 51,7 por ciento (IC95 por ciento 46,7 por ciento -56,7 por ciento) tuvieron al menos una EcoPN; de éstos el 31,1 por ciento (IC95 por ciento 24,9 por ciento -37,9 por ciento) no tuvo diagnóstico de ACM. La ausencia de EcoPN estuvo asociada a la afiliación al régimen de salud subsidiado, la no afiliación al sistema de salud, a las madres procedentes de municipios diferentes a la capital de la provincia, de otras provincias y del área rural. Hubo asociaciones similares para la ausencia de diagnóstico de alguna ACM en la EcoPN. Conclusiones: Se detectaron inequidades en la realización EcoPN y en el diagnóstico de ACM en las madres de mayor vulnerabilidad social y demográfica. Se debe mejorar el acceso a los servicios de EcoPN en Colombia para cerrar estas disparidades sociales.

Background: Major Congenital Anomalies (MCA) are present in 2-3 percent of live births. Most of these are diagnosable by prenatal ultrasound (PNUS). Developing countries have inequities in access to this screening test. Objectives: To determine existing inequities access to PNUS in mothers of newborns (NB) with MCA hospitalized in two neonatal intensive care units (NICU) and to identify inequities in the diagnosis of MCA among mothers to whom it was made at least one PNUS. Methods: Cross-sectional study in NB with MCA diagnosable by PNUS hospitalized in two NICUs of Cali, Colombia, between 2005 and 2009. The index of agreement (kappa) between prenatal diagnosis and definitive MCA was calculated. It was established associations between absence of PNUS and diagnosis of MCA with socio-demographic factors and health insurance schemes. Results: 404 cases with 573 MCA were included. 51.7 percent (95 percent CI: 46.7 percent -56.7 percent) had at least one PNUS; of these 31.1 percent (95 percent CI: 24.9 percent -37.9 percent) had no diagnosis of MCA. The absence of PNUS was associated with affiliation to the subsidized health scheme, no-affiliation to the health system, mothers from municipalities different to the capital of the province, from other provinces and from rural areas. There were similar associations for the absence of a diagnosis of MCA in PNUS. Conclusions: It was detected inequities in access to the PNUS and in diagnosis of MCA for mothers of greater social and demographic vulnerability. The access to services of PNUS in Colombia should been improved, in order to reduce these social disparities.

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OBJETIVO: Determinar os desfechos maternos e perinatais em gestantes com o líquido amniótico diminuído segundo o índice de líquido amniótico (ILA). MÉTODOS: Realizou-se estudo de coorte com 176 pacientes admitidas na enfermaria de alto risco do Instituto de Medicina Integral Prof. Fernando Figueira (IMIP. O líquido amniótico foi mensurado pelo índice de líquido amniótico , sendo classificado como diminuído, quando entre 5,1 e 7,9 cm; oligohidrâmnio moderado, entre 3,1 e 5,0 cm; e grave, quando menor ou igual a 3,0 cm. Para se determinar a diferença entre os três grupos das variáveis categóricas estudadas, foram utilizados o teste de chi-quadrado e exato de Fisher, quando pertinentes, e, para as variáveis numéricas, utilizou-se o teste de Mann Whitney, em um nível de significância de 5%. RESULTADOS: As malformações fetais ocorreram mais frequentes quando o oligohidrâmnio foi grave, enquanto as síndromes hipertensivas foram associadas ao oligohidrâmnio moderado. Observou-se semelhança entre os três grupos em relação à rotura prematura das membranas e outras causas. O líquido amniótico reduzido foi encontrado com maior frequência quando a idade gestacional do diagnóstico foi ≥32ª semana. Em relação aos desfechos perinatais, a incidência de índice de Apgar <7 no 1ºe 5ºminuto do óbito perinatal, da icterícia neonatal e da hipoplasia pulmonar foi mais elevada na presença do oligohidrâmnio moderado a grave. CONCLUSÕES: As causas e os desfechos maternos e perinatais em gestantes com líquido amniótico reduzido varia em relação a sua classificação pelo ILA, estando o oligohidrâmnio grave associado aos desfechos perinatais adversos e às malformações fetais.

PURPOSE: To determine maternal and perinatal outcomes in pregnant women with low amniotic fluid, according to the amniotic fluid index (AFI). METHODS: A cohort study conducted on 176 patients admitted to the high risk ward of Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), in Recife, Pernambuco, Brazil. Amniotic fluid was measured by the amniotic fluid index, and classified as low when between 5.1 and 7.9 cm, moderate oligohydramnios between 3.1 and 5.0 cm, and severe oligohydramnios when less than or equal to 3.0 cm. To determine the difference between the three groups of categorical variables studied the chi-square and Fisher exact tests were used, when applicable, and for the numerical variables the Mann-Whitney test was applied, with the level of significance set at 5%. RESULTS: Fetal malformation more frequently occurred when oligohydramnios was severe. Hypertensive disorders, however, were associated with moderate oligohydramnios. There was similarity between the three groups in relation to premature rupture of membranes and other causes. Low amniotic fluid was more frequently diagnosed when tested at the gestational age of 32 weeks or earlier. Regarding the perinatal outcomes, the incidence of Apgar score <7 in the 1st and 5th minutes, perinatal death, neonatal jaundice and pulmonary hypoplasia was higher when oligohydramnios was moderate to severe. CONCLUSIONS: Maternal and perinatal causes and outcomes in pregnant women with low amniotic fluid vary with respect to their AFI, severe oligohydramnios being associated with fetal malformation and other adverse perinatal outcomes.

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Introducción: los linfangiomas son malformaciones del sistema linfático que pueden aparecer como cavidades multilobuladas a nivel del cuello (75%) y axilas (20%), siendo muy pocos los casos de linfangiomas extensos reportados en la literatura. La incidencia de los casos diagnosticados en el período prenatal es realmente baja pero causa una tasa muy alta de mortalidad por su relación con complicaciones o efectos de compresión, pudiendo generar dificultad respiratoria, dificultad para deglutir, fiebre, aumento repentino de la lesión o sobreinfección de la misma. Se revisan dos casos y se realiza una revisión de la literatura sobre el diagnóstico prenatal y pronóstico de la enfermedad. Metodología: se presentan dos casos con diferente desenlace y se efectúa una búsqueda exhaustiva a través de MEDLINE por PubMed, MD Consult, Ovid y Hinari, de los últimos tres años con términos MeSH, los cuales fueron: Lymphangioma; Lymphangioma, cystic; Abdominal cystic lymphangioma; Prenatal diagnosis; Ultrasonography, prenatal. Se obtuvieron un total de 449 artículos de los cuales 18 se encontraron pertinentes y adecuados para incluir en la revisión, ninguno de los cuales se obtuvo en el medio latinoamericano. Conclusión: el linfangioma es una patología infrecuente cuyo diagnóstico prenatal temprano y adecuado ayuda a la consejería y al manejo del recién nacido y mejora así el pronóstico neonatal

Introduction: lymphangiomas are malformations of the lymphatic system that can appear as multilobulated cavities in the neck (75%) and axilla (20%) with very few cases of extensive lymphangioma reported in the literature. The incidence of cases diagnosed prenatally is really low but causing very high mortality rate because of its relationship with complications or compression effects which can result in difficulty breathing, difficulty swallowing, fever, sudden or coinfection of the lesion. Two cases are reviewed in order to conduct a review of the literature on prenatal diagnosis and prognosis. Methodology: we present two cases with different outcome, performing an exhaustive search through PubMed MEDLINE, MD Consult, Ovid, Hinari for the last three years with MeSH terms: lymphangioma, lymphangioma, cystic, abdominal cystic lymphangioma, prenatal diagnosis, ultrasonography, prenatal. We obtained a total of 449 articles of which 18 were relevant and appropriate to include in the review, none of which was obtained in the Latin American environment. Conclusion: lymphangioma is an uncommon condition whose early diagnosis and adequate prenatal counseling helps to manage and improve newborn neonatal prognosis

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Introducción: las alteraciones del cordón umbilical están asociadas con diversas complicaciones de la gestación a corto y a largo plazo, algunas con pocas probabilidades de sobrevida y relacionadas con lesiones fetales múltiples. El complejo Limb-Body Wall (LBWC), compuesto por defectos de la pared corporal lateral y anomalías por acortamiento de miembros, es una de tales complicaciones, cuyas aún discutidas etiologías, pobre pronóstico y posibilidad de recurrencia hacen que cobre importancia en el diagnóstico ecográfico, la atención neonatal y el abordaje de la autopsia. Objetivos: reportar un caso de LBWC y revisar la literatura publicada sobre su etiología, características clínicas y diagnóstico, en el contexto de las complicaciones asociadas con las alteraciones del cordón umbilical. Materiales y métodos: se presenta el caso clínico de una recién nacida de primer embarazo de madre adolescente quien consultó a una entidad de nivel referencia y alta complejidad, recién nacida que falleció a los pocos minutos de nacer; presentaba defecto de la pared abdominal, escoliosis y esbozo de miembro superior izquierdo, asociado con cordón umbilical de 6 cm. Se realizó una revisión de la literatura publicada en las bases de datos Medline vía PubMed, Ovid e Hinari. Conclusión: el LBWC se asocia con un índice importante de morbimortalidad y con la expresión de un cordón excesivamente corto; por tanto, cobra gran relevancia hacer un diagnóstico oportuno y brindar asesoría genética adecuada a las familias...

Introduction: umbilical cord alterations are associated with several short and long-term complications during pregnancy, some involving little chance of survival related to multiple foetal lesions. One of those anomalies is the Limb-Body Wall Complex (LBWC) which consists of lateral body wall defects and anomalies due to shortening of the limbs. Its still discussed aetiology, poor prognosis and possible recurrence make it important in ecographic diagnosis, neonatal attention and the approach during autopsy. Objectives: reporting a case of LBWC and reviewing the literature published about its aetiology, clinical characteristics and diagnosis within the context of the complications associated with umbilical cord alterations. Materials and methods: a clinical case of a female newborn resulting from an adolescent mother’s first pregnancy who consulted a reference and high complexity entity is presented. The newborn died a few minutes after being born, presenting a defect of the abdominal wall, scoliosis and upper left limb stump associated with a 6 cm umbilical cord. The literature published in Medline data bases was reviewed using PubMed, Ovid and Hinari. Conclusion: LBWC is an expression of an excessively short cord and is associated with important morbidity-mortality. Thus an early diagnosis must be made and suitable genetic advice given to families...

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OBJETIVO: Avaliar a reprodutibilidade intra e interobservador do Doppler de amplitude tridimensional (3D power Doppler) na avaliação do fluxo sanguíneo cerebral do território da artéria cerebral média. MATERIAIS E MÉTODOS: Foi realizado estudo transversal com 20 gestantes normais entre 26 e 34 semanas. O território da artéria cerebral média mais próximo ao transdutor foi selecionado e o volume foi calculado utilizando-se o método Virtual Organ Computer-aided AnaLysis. Posteriormente, obtiveram-se os índices do 3D power Doppler: índice de vascularização (VI), índice de fluxo (FI) e índice de vascularização-fluxo (VFI). Utilizaram-se, para os cálculos, o coeficiente de correlação intraclasse (CCI) e gráficos de Bland-Altman. RESULTADOS: Foi observada boa concordância intra e interobservador, com CCI > 0,90 para todos os índices do 3D power Doppler: VI [CCI = 0,992 (IC 95 por cento: 0,981-0,997)], FI [CCI = 0,999 (IC 95 por cento: 0,998-0,999)], VFI [CCI = 0,995 (IC 95 por cento: 0,987-0,998)]. Reprodutibilidade interobservador: VI [CCI = 0,988 (IC 95 por cento: 0,970-0,995)], FI [CCI = 0,999 (IC 95 por cento: 0,997-1,000)], VFI [CCI = 0,994 (IC 95 por cento: 0,994-0,998)]. CONCLUSÃO: O 3D power Doppler mostrou-se um método prático, fácil e com boa reprodutibilidade intra e interobservador, com o IF evidenciando a melhor concordância intra e interobservador.

OBJECTIVE: To evaluate the intra- and interobserver reproducibility of three-dimensional power Doppler sonography (3D power Doppler) in the assessment of fetal brain blood flow in the middle cerebral artery territory. MATERIALS AND METHODS: A cross-sectional study was developed with 20 healthy pregnant women between 26 and 34 gestational weeks. The middle cerebral artery territory closest to the transducer was scanned and the blood flow volume was calculated with the method Virtual Organ Computer-aided AnaLysis. The following 3D power Doppler indices were later obtained: vascularization index (VI), flow index (FI) and vascularization-flow index (VFI). The intraclass correlation coefficient (ICC) and Bland-Altman plots were utilized for calculating the intra- and interobserver variability. RESULTS: A good intra- and interobserver agreement was observed, with ICC > 0.90 for all the 3D power Doppler indices: VI [ICC = 0.992 (CI 95 percent: 0.981-0.997)], FI [ICC = 0.999 (CI 95 percent: 0.998-0.999)], VFI [ICC = 0.995 (CI 95 percent: 0.987-0.998)]. Interobserver reproducibility: VI [ICC = 0.988 (CI 95 percent: 0.970-0.995)], FI [ICC = 0.999 (CI 95 percent: 0.997- 1.000)], VFI [ICC = 0.994 (CI 95 percent: 0.994-0.998)]. CONCLUSION: 3D power Doppler has shown to be a practical and easy method in the assessment of fetal brain blood flow, with good intra- and interobserver reproducibility. The FI presented the best intra- and interobserver agreement.

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El estudio del feto utilizando ultrasonido en tiempo real es uno de los avances tecnológicos más importantes de los últimos tiempos, permitiendo obtener información acerca de su integridad anatómica y funcional, así como establecer el diagnóstico de defectos congénitos en las etapas tempranas del embarazo. El Síndrome Klippel-Trenaunay-Weber fue originalmente reportado por Maurice Klippel y P. Trenaunay en 1900, el hallazgo clínico más frecuente es el angioma plano o nevus flammeus. Se presenta un caso de una gestante de 18 años, primigesta, con antecedente de salud previo, que acude a la consulta por presentar Hb AS. El estudio ecográfico realizado a las 22 semanas de gestación reveló marcada hipertrofia del miembro inferior izquierdo fetal asociado a hemangioma cavernoso gigante que afectaba pelvis, nalgas y genitales. Tales hallazgos guiaron al diagnóstico de Síndrome Klippel-Trenaunay-Weber. Esta entidad clínica es considerada una rareza, siendo su diagnóstico prenatal ecográfico poco conocido por lo que se presenta el caso.

The study of the fetus using the ultrasound in real time is one of the most important technological advances of recent days; which allow collecting information about anatomic and functional integrity as well as establishing the diagnosis of congenital malformations in early stages of pregnancy. Klippel-Trenaunay-Weber syndrome was first reported by Maurice Klippel and P. Trenaunay in 1900, the most frequent clinical finding is the flat angioma or flammeus nevus. An 18 years old primigravida having health records attended to the office presenting HbAS. The sonographic study carried out at 22 weeks of pregnancy revealed a marked hypertrophy of the lower fetal limb associated with giant cavernous angioma affecting the pelvis, buttocks and genitals. Such findings guided to the diagnosis of Klippel-Trenaunay-Weber syndrome. This is a rare clinical entity and its antenatal diagnosis is little- known, thus the case is presented.

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OBJETIVO: Avaliar a correlação do volume da vesícula vitelínica aferida por meio da ultrassonografia tridimensional com a idade gestacional entre a 7ª e a 10ª semanas. MATERIAIS E MÉTODOS: Realizou-se um estudo do tipo corte transversal envolvendo 72 gestantes normais entre a 7ª e a 10ª semanas de gestação. Para o cálculo do volume da vesícula vitelínica, utilizou-se o método multiplanar com intervalo de 1,0 mm entre os planos. Para o volume da vesícula vitelínica foram determinadas médias, medianas, desvios-padrão e valores máximo e mínimo. Para avaliar a correlação entre o volume da vesícula vitelínica e a idade gestacional, foram criados modelos de regressão, sendo os ajustes realizados pelo coeficiente de determinação (R²). RESULTADOS: O volume da vesícula vitelínica (VV) mostrou-se fracamente correlacionado com a idade gestacional (IG), melhor representado pela regressão quadrática, representada pela equação: volume VV = 0,9757 - 0,2499 × IG + 0,0172 × IG² (R² = 0,234). O volume médio da vesícula vitelínica variou de 0,07 cm³ (0,02-0,11) a 0,20 cm³ (0,02-0,74) entre a 7ª e a 10ª semanas de gestação, com média de 0,11 cm³ (± 0,10 cm³). CONCLUSÃO: O volume da vesícula vitelínica correlacionou-se fracamente com a idade gestacional.

OBJECTIVE: To evaluate the correlation between the yolk sac volume measured by three-dimensional ultrasonography with gestational age at 7-10 weeks. MATERIALS AND METHODS: A cross-sectional study involving 72 healthy pregnant women at 7th-10th gestational weeks. The multiplanar method with 1.0 mm intervals was utilized. Regression models were constructed to analyze the correlation between yolk sac volume and gestational age, adjusted by the determination coefficient (R²). Mean, median, standard deviation, maximum and minimum values for yolk sac volume were calculated for each gestational age. RESULTS: A poor correlation was observed between yolk sac volume (YSV) and gestational age (GA). The quadratic regression was the model that best expressed this correlation: YSV = 0.9757 - 0.2499 × GA + 0.0172 × GA² (R² = 0.234). Mean yolk sac volume ranged from 0.07 cm³ (0.02-0.11) to 0.20 cm³ (0.02-0.74) between the 7th and 10th weeks (mean, 0.11 cm³, ± 0.10 cm³). CONCLUSION: There was a poor correlation between yolk sac volume and gestational age.

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OBJETIVO: Caracterizar, do ponto de vista sociodemográfico, e obter a evolução pós-natal, das gestantes com diagnóstico ultrassonográfico pré-natal de malformação fetal maior, atendidas no Setor de Medicina Fetal do Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo, entre 15/12/2005 e 15/12/2006. METHODS: Estudo descritivo com 335 gestantes entrevistadas após a obtenção do termo de consentimento pós-informado. Os dados pós-natais foram obtidos mediante contato até um mês após a data provável do parto. Foram excluídas aquelas que não aderiram e que não tiveram confirmação da malformação fetal. RESULTADOS: A idade materna média das gestantes foi de 27,1 anos; a cor da pele predominante parda (48,1 por cento). Em relação à escolaridade, 57,8 por cento das gestantes apresentavam grau de escolaridade igual ou inferior ao ensino médio completo. A renda salarial média foi de 3,1 salários mínimos. Quanto aos antecedentes de malformação fetal, 10,4 por cento das gestantes o referiram. Dentre os casos de malformação atual, as do sistema nervoso central foram as mais prevalentes (28 por cento), seguidas das malformações renais (9,2 por cento) e cardíacas (8,9 por cento). Das gestantes submetidas à pesquisa do cariótipo fetal, 23,6 por cento obtiveram resultados anormais. Em 311 casos (92,8 por cento), o resultado da gestação foi obtido. Destes, 76,8 por cento nasceram vivos; 25,7 por cento evoluíram com óbito neonatal; 16,4 por cento foram natimortos e em 6,3 por cento houve interrupção da gestação. CONCLUSÃO: O presente estudo permitiu conhecer as características sociodemográficas e os resultados gestacionais de mulheres com diagnóstico de malformação fetal, o que poderá ser útil para o planejamento periconcepcional deste grupo de pacientes.

OBJECTIVE: The purpose of this study is to describe the socio demographic profile and perinatal outcome of pregnant women with prenatal ultrasound diagnosis of major fetal malformation at the Hospital das Clínicas, Medical School, São Paulo University. The study was performed from December 15th 2005 to December 15th 2006. METHODS: This is an observational descriptive study where 335 pregnant women were interviewed after agreement. Postnatal information was obtained until a month after due date of birth. Cases that were not confirmed and did not consent to participate in the study were excluded. RESULTS: Mean maternal age was 27.1 years and skin color was brown in 48.1 percent of cases. According to the education level and salary, 57.8 percent did not finish college and the mean monthly income was 3.1 minimal wages. A previous history of fetal malformation was reported by 10.4 percent of women. The central nervous system was the most frequent site of malformation (28.1 percent), followed by renal (9.3 percent) and cardiac (9 percent) defects. Fetal karyotype results were abnormal in 23.6 percent of fetuses. Pregnancy outcome was ascertained in 311 cases (92.8 percent): 76.8 percent were alive, 25.7 percent were neonatal deaths, 16.4 percent were stillborn and 6.3 percent miscarried. CONCLUSION: This study describes socialdemographic features and perinatal outcome in pregnancies with major fetal malformation diagnosed antenatally. This information is useful for parent counselingin cases with an abnormal fetal diagnosis.

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