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A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.
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Recém-Nascido , Masculino , Humanos , Feminino , Gravidez , Hidropisia Fetal/genética , Ácido N-Acetilneuramínico , Placenta/patologia , AsciteRESUMO
Introducción: El cierre prematuro del foramen oval o foramen oval restrictivo intraútero es una entidad clínica rara pero seria, de etiología desconocida. Puede ocasionar diversos defectos cardíacos, hipertensión pulmonar, insuficiencia cardiaca congestiva, hidrops fetal y muerte. El diagnóstico puede realizarse mediante ecocardiografía fetal, aunque en la mayoría de los casos sucede en autopsia posmortem. Objetivo: Describir un caso de hidrops fetal secundario al cierre prematuro del foramen oval intraútero. Presentación del caso: Recién nacido pretérmino de 34 semanas en el que, en ecografía y ecocardiografía prenatal se visualizó un aumento de las cavidades cardíacas asociado a cierre intrauterino de foramen oval e hidrops, hallazgos confirmados al nacimiento. Tras una prolongada estancia en unidad de cuidados intensivos neonatal y tratamiento con inotrópicos y diuréticos, se otorgó el alta hospitalaria con diagnóstico de cardiomiopatía dilatada secundaria a foramen oval restrictivo. Conclusiones: La asociación de cierre prematuro de foramen oval con hidrops fetal ha sido descripta en escasas publicaciones y es frecuente en estas la relación con muerte perinatal y con anomalías extracardíacas. En este caso se describe hidrops secundario al cierre temprano del foramen oval intraútero que condicionó a la dilatación global de cavidades cardíacas y a la disfunción ventricular severa persistentes más allá del periodo neonatal sin otras anomalías asociadas. A pesar de la severidad del compromiso cardiovascular, la evolución clínica fue favorable y permitió el egreso hospitalario. Es importante el reconocimiento temprano mediante ecografía y ecocardiografía fetal de estas entidades para guiar un diagnóstico y tratamiento oportunos(AU)
Introduction: Premature closure of the oval foramen or intrauterine restrictive oval foramen is a rare but serious clinical entity of unknown etiology. It can cause various heart defects, pulmonary hypertension, congestive heart failure, fetal hydrops and death. Diagnosis can be made by fetal echocardiography, although in most cases it occurs in postmortem autopsy. Objective: Describe the presentation of a case of fetal hydrops secondary to premature closure of the intrauterine oval foramen. Case presentation: A 34-week preterm newborn in which, in ultrasound and prenatal echocardiography, an increase in the cardiac chambers associated with intrauterine closure of oval foramen and hydrops was visualized; these findings were confirmed at birth. After a prolonged stay in the neonatal intensive care unit and treatment with inotropic and diuretic drugs, hospital discharge was granted with diagnosis of dilated cardiomyopathy secondary to restrictive oval foramen. Conclusions: The association of premature closure of oval foramen with fetal hydrops has been described in few publications and it is common in these the relation with perinatal death and extracardiac abnormalities. In this case, it is described hydrops secondary to the early closure of the intrauterine oval foramen that conditioned the overall dilation of heart chambers, and persistent severe ventricular dysfunction beyond the neonatal period without other associated abnormalities. Despite the severity of cardiovascular compromising, clinical evolution was favorable and allowed hospital discharge. Early recognition using ultrasound and fetal echocardiography of these entities is important to guide timely diagnosis and treatment(AU)
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Humanos , Recém-Nascido , Cardiomiopatia Dilatada , Hidropisia Fetal , Terapia Intensiva Neonatal , Disfunção Ventricular , Forame Oval , CoraçãoRESUMO
Resumen: ANTECEDENTES: Los tumores cardiacos fetales son excepcionales y se asocian con complicaciones que ponen en riesgo la vida del feto. Se diagnostican a partir del segundo trimestre y pueden provocar hidrops fetal no inmunitario, arritmias, compresión de los conductos de salida y muerte súbita. Es importante el seguimiento durante la gestación para detectar posibles complicaciones y establecer un plan de nacimiento. CASO CLÍNICO: Paciente de 35 años, multigesta, enviada a la unidad materno-fetal para valoración por embarazo de 24.2 semanas y feto con tumor cardiaco único, localizado en el ápex, de gran tamaño. No se identificó afectación de la función cardiaca, por lo que solo ameritó vigilancia prenatal. Al nacimiento, el recién nacido recibió tratamiento con everolimus, con reacción satisfactoria. CONCLUSION: El tratamiento y seguimiento de fetos con tumor cardiaco es de suma importancia para detectar complicaciones prenatales y establecer el plan de nacimiento en la unidad de tercer nivel de atención médica.
Abstract: BACKGROUND: Fetal cardiac tumors are rare, with a very low incidence, however; when they do occur, they are associated with life-threatening complications of the fetus. They are diagnosed from the second trimester and can cause non-immune fetal hydrops, arrhythmias, compression of outflow tracts, and sudden fetal death. Follow-up during pregnancy is important to detect possible complications and establish a birth plan. CLINICAL CASE: A 35-year-old multigest patient, sent to the fetal maternal unit by his treating physician for evaluation for 24.2-week pregnancy and fetus with a single cardiac tumor, located on the apex, of large size; and without compromise in cardiac function, so only prenatal surveillance was warranted. At birth, the newborn received everolimus treatment, with a good response. CONCLUSION: The case of a patient with a single pregnancy and fetus with a prenatal diagnosis of a large cardiac tumor is presented with a family history of hemangiomas. In this case, a follow-up approach to detect prenatal complications and establish a birth plan in a third level of medical care is critical for a good practice.
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El hídrops fetal se define como el acúmulo anormal de líquido en los tejidos blandos y cavidades serosas del feto (pleural, pericárdico y peritoneal). Se divide en dos grupos: hídrops fetal inmune e hídrops fetal no inmune. Se presenta el caso de gestante (9 semanas), calificada como riesgo genético incrementado por sus antecedentes obstétricos. Se procede según establece el Programa de Genética para la Detección Prenatal de Defectos Congénitos. Se resalta la importancia de la información de los resultados de las ecografías prenatales en el diagnóstico precoz de malformaciones congénitas y/o defectos estructurales del feto. Tras el seguimiento del caso y la realización de pruebas confirmativas se llegó al diagnóstico presuntivo de hídrops fetal no inmunológico, lo cual fue confirmado con posterioridad por anatomía patológica. Teniendo en cuenta que el pronóstico de esta entidad es generalmente desfavorable y con una tasa de mortalidad intrauterina muy alta, la pareja decidió la terminación del embarazo(AU)
serous cavities (pleural, pericardial, and peritoneal). It is divided into two groups: fetal immune hydrops and non-immune fetal hydrops. We report the case of a 9 weeks pregnant woman, classified to be at increased genetic risk by her obstetric history. We proceed as established by the Genetics Program for the Prenatal Detection of Birth Defects. The importance of the prenatal ultrasound information is relevant in the early diagnosis of congenital malformations and / or structural defects of the fetus. After the follow-up of the case and the performance of confirmatory tests, a presumptive nonimmunological fetal hydrops is diagnosed, which is subsequently confirmed by pathological anatomy. Taking into account that the prognosis of this entity is generally unfavorable and with very high intrauterine mortality rate, this couple decided to terminate the pregnancy(AU)
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Humanos , Feminino , Gravidez , Adulto , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Diagnóstico PrecoceRESUMO
El síndrome en espejo es una entidad obstétrica poco frecuente, cuya triada clásica es hidropesía fetal, edema materno generalizado y placentomegalia. Presentamos el caso de una gestante de 25 semanas, con diagnóstico de hidropesía fetal por anemia severa y criterios de preeclampsia severa con óbito fetal, en el contexto del síndrome en espejo. Revisamos la literatura con énfasis en la anti-angiogénesis como origen fisiopatológico de la enfermedad.
The mirror syndrome is a rare obstetric condition whose classical triad is fetal hydrops, generalized maternal edema and placentomegaly. We present the case of a 25 weeks pregnant woman with diagnosis of fetal hydrops due to severe anemia presenting criteria of severe preeclampsia with fetal death, in the context of mirror syndrome. We review the literature with emphasis on anti-angiogenesis as the pathophysiological origin of the disease.
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Resumen ANTECEDENTES La enfermedad hemolítica perinatal ocurre después de una transfusión sanguínea, que sensibiliza con antígenos eritrocitarios, hemorragia materno-fetal durante el embarazo o al momento del parto. La incidencia de anticuerpos anti-D ha disminuido de 14 a 0.1% en las madres D-negativas. No existe una inmunoglobulina que evite o disminuya la aloinmunización por otros antígenos eritrocitarios durante el embarazo. La incompatibilidad del grupo sanguíneo Duffy es una causa común de enfermedad hemolítica perinatal. OBJETIVO Exponer el caso de una paciente con hijo con enfermedad hemolítica perinatal por anticuerpos anti-Fya y anti-D tratado con transfusión intrauterina. CASO CLÍNICO Paciente de 22 años, con antecedente de múltiples transfusiones sanguíneas y datos clínicos de síndrome anémico. En la semana 28 del embarazo fue valorada para aplicarle inmunoglobulina anti-D. Luego de aplicarle dos unidades de concentrado eritrocitario Rh negativo se observó incompatibilidad (++) en fase de antiglobulina humana (Coombs), por esto se realizó el escrutinio de anticuerpos irregulares en gel, que resultó positivo en células I y II (+++). Enseguida se inició el protocolo de identificación de anticuerpos irregulares con un panel de 11 células, que reportó aglutinación en las células 1, 2, 3, 5, 6, 7, 8 y 11, sin mostrar especificidad. El estudio de adsorción del anticuerpo anti-D mostró células de antígeno D+ con las que se estableció el diagnóstico de anticuerpos anti-Fya y anti-D. El embarazo finalizó mediante cesárea con el nacimiento de un varón con grupo y Rh O positivo, de 30.1 semanas de gestación (talla de 40 cm y peso de 2000 g) con hidrops fetal. Se le realizaron ciclos de reanimación e ingresó a la unidad de cuidados intensivos neonatales, sin tratamiento farmacológico, y después de una hora de vida extrauterina falleció. La madre se dio de alta del hospital 36 horas después del puerperio, sin complicaciones adicionales. CONCLUSIÓN Los anticuerpos antieritrocitarios anti-Fya, solos o en combinación con otros anticuerpos, provocan enfermedad hemolítica perinatal severa. El laboratorio de inmunohematología tiene participación importante en el diagnóstico, seguimiento y tratamiento de la enfermedad hemolítica perinatal.
Abstract BACKGROUND Hemolytic disease of the fetus and newborn occurs after alloimmunization with red blood cells antigens by blood transfusion, maternal-fetal hemorrhage during pregnancy or at delivery. Currently, the incidence of alloimmunization by anti-D antibody has been reduced from 14% to 0.1% of D-negative mothers, however, there is no immunoglobulin that prevents or decreases alloimmunization by other red blood cells antigens during pregnancy. The incompatibilities of the Duffy blood group are a common cause of hemolytic disease of the fetus and newborn. OBJECTIVE To present the case of a neonate with perinatal hemolytic disease secondary to anti-Fya and anti-D antibodies managed with intrauterine transfusion. CLINICAL CASE A 22-year-old patient with a history of multiple blood transfusions and clinical data of anemic syndrome. In the 28th week of pregnancy it was evaluated for the application of anti-D immunoglobulin. The blood bank was asked for two units of Rh negative erythrocyte concentrate. Incompatibility (++) in the human antiglobulin phase (Coombs) was observed, so the irregular antibody gel was screened, which was positive in cells I and II (+++). An identification protocol for irregular antibodies was initiated with a panel of 11 cells, which reported agglutination in cells 1, 2, 3, 5, 6, 7, 8 and 11, without specificity. The adsorption study of the anti-D antibody showed D + antigen cells. The diagnosis of anti-Fya and anti-D antibodies was established. The pregnant woman was terminated by caesarean section, from which a male with a group was born and Rh O positive, of 30.1 weeks of gestation (size of 40 cm and weight of 2000 g) with fetal hydrops. He underwent resuscitation cycles, entered the neonatal intensive care unit, without pharmacotherapy and died after one hour of extrauterine life. The mother withdrew 36 hours after the puerperium, without additional complications. CONCLUSION The antibodies anti-Fya alone or next to other alloantibodies produce severe hemolytic disease of the fetus and newborn. The laboratory of immunohematology in the blood bank is an essential tool in the diagnosis, monitoring and treatment of hemolytic disease of the fetus and newborn.
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Hidrotórax fetal (HF) es la presencia de líquido en la cavidad pleural del tórax. Puede ser aislado o asociado con Hídrops y ascitis fetal. La incidencia 1:15.000 embarazos. Si es aislado, la causa más frecuente es quilotórax congénito, anomalía primaria del sistema linfático. En recién nacido (RN) es frecuente en el sexo masculino, primario y generalmente bilateral. En el feto, el secundario con prevalencia 1:1500 nacidos vivos y generalmente causado por isoinmunización, infecciones, cardiopatías, cromosomopatías, malformaciones de placenta y cordón umbilical. La edad promedio del diagnóstico son 27 semanas, reconociéndose ultrasonográficamente como un área anecoica alrededor de los pulmones. Su pronóstico depende fundamentalmente de la causa y secundariamente de su magnitud, lateralidad y presencia de hídrops. La mortalidad se estima en 25%, variando de 15% cuando es aislado y 95% asociado a hídrops. La mayoría, empeoran con el embarazo, haciéndose bilateral, puede genera compresión esofágica en Hidrotórax fetal primario (HFP) asociados a polihidramnios 72%. Se reporta caso de HFP, en paciente de 20 años con 25 semanas de gestación, cuyo hallazgo ultrasonográfico documenta derrame pleural derecho, se realiza toracocentesis intrauterina, obteniendo 25cc de líquido amarillento, posteriormente hay disminución del derrame pleural. Se obtuvo en cesárea segmentaria electiva a las 37 semanas + 6 días; RN femenino en estables condiciones generales, no requirió intubación ni soporte ventilatorio artificial. La evacuación intrauterina alivió la presión intratorácica, permitiendo una expansión satisfactoria de ambos pulmones y evitando la insuficiencia respiratoria del R.
Fetal hydrothorax (FH) is the presence of fluid in the pleural cavity of the chest. It may be isolated or associated with fetal hydrops and ascites. The incidence 1: 15,000 pregnancies If it is isolated, the most common cause is congenital chylothorax primary abnormality of the lymphatic system. In Newborn (RN) is common in males, usually bilateral primary and sex. In the fetus is secondary with prevalence 1: 1500 live births caused by isoimmunization, infections, heart disease, chromosomal abnormalities, malformations of placenta and umbilical cord. The average age of diagnosis is 27 weeks, ultrasonographically recognized as an anechoic area around the lungs. His prognosis mainly depends on the cause and secondarily of its size, laterality and presence of hydrops. The mortality is estimated at 25%, varying from 15% when it is isolated and 95% associated with hydrops. Most worsen bilateral becoming pregnancy can generate esophageal compression in primary fetal Hydrothorax (HFP) associated with polyhydramnios 72%. HFP case is reported, a patient of 20 years with 25 weeks of gestation, whose ultrasonographic finding documents right pleural effusion, intrauterine thoracentesis is done, obtaining 25cc yellowish liquid, then no decrease in the pleural effusion. It was obtained segmental elective Caesarean at 37 weeks + 6 days; Female RN in stable conditions did not require intubation or artificial ventilatory support. Intrauterine evacuation intrathoracic pressure relieved, allowing a satisfactory expansion of both lungs and respiratory distress avoiding RN.
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Presentamos el caso de una gestante de 29 semanas que acude a urgencias por edemas en extremidades inferiores, un incremento ponderal en la última semana de 7 kg, oliguria y disnea. El feto presentaba un cuadro de ascitis y edema subcutáneo. Se realizó el diagnóstico de hidrops fetal no inmune, en el contexto de un síndrome de Ballantyne de causa desconocida. Inició trabajo de parto a los 7 días del ingreso y el puerperio cursó sin incidencias siendo dada de alta a las 48 horas post parto. El neonato precisó soporte respiratorio con ventilación no invasiva durante dos semanas y actualmente sigue controles periódicos en neonatología, con muy buena evolución.
We report a case of a 29 weeks pregnant who came to the emergency department because she presented oedema in lower extremity, weight increased in the last week of 7 kg, oliguria and dyspnoea. The fetus showed ascites and subcutaneous oedema. It was diagnosed a non-immune hydrops, in the context of Ballantyne syndrome of unknown cause. Childbirth was 7 days after admission and puerperium envolved normally, the patient was discharged at 48 hours postpartum. The neonate required respiratory support with non-invasive ventilation for two weeks and nowadays the baby is currently regular checks in neonatology, with a positive evolution.
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Humanos , Feminino , Gravidez , Recém-Nascido , Adulto , Ascite/etiologia , Edema/complicações , Hidropisia Fetal/etiologia , Complicações na Gravidez , Resultado da Gravidez , SíndromeRESUMO
Glycogen storage disease (GSD) is a group of heterogeneous disorders of glycogen metabolism that results in abnormal storage of glycogen in multiple organs. Clinical manifestations of GSD vary according to the basic enzyme defect. Only types II, IV, V or VII of GSD have been known to manifest in the infantile period. Of the 11 types of GSD, the congenital subtype of GSD type IV is characterized by severe neonatal hypotonia, multiple contractures, polyhydramnios, and fetal hydrops. We report a case of a patient born at a gestational age of 34 weeks and 3 days with fetal hydrops, joint contractures, and akinesia. Muscle biopsy results were highly indicative of GSD. This is the first case of suspected GSD in Korea presenting as fetal hydrops. The possibility of other disorders associated with glycogen metabolism should be considered in fatal fetal hydrops patients with severe hypotonia and arthrogryposis, and aggressive investigations such as muscle biopsy should be performed for early diagnosis.
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Humanos , Artrogripose , Biópsia , Contratura , Diagnóstico Precoce , Idade Gestacional , Doença de Depósito de Glicogênio , Glicogênio , Hidropisia Fetal , Articulações , Coreia (Geográfico) , Metabolismo , Hipotonia Muscular , Músculos , Poli-HidrâmniosRESUMO
Objetivo: se presenta una serie de casos de hidrops fetal no inmune (HFNI) con el objetivo de revisar la literatura sobre su etiología y pronóstico. Materiales y métodos: serie de casos diagnosticados por ultrasonografía en el Servicio de Perinatología del Hospital Dr. Adolfo Prince Lara, Venezuela, hospital público de referencia de atención perinatal regional que atiende población de medios y bajos ingresos, en el periodo 2005-2009, y se realiza una revisión de la literatura en la base de datos Medline vía Pubmed, y en la base latinoamericana SciELO desde el año 1995 hasta 2011, y en libros de la especialidad. La palabra clave usada fue hidrops fetal. Resultados: se revisaron 2195 historias clínicas encontrándose nueve casos de HFNI, resultando una prevalencia de (0,41 por ciento). Hubo dos casos de monosomías, un caso asociado a proceso infeccioso, dos casos de malformaciones cardiacas, un caso de malformaciones múltiples, y en tres no se precisó etiología. Todos los productos fallecieron, ya sea in utero o en el periodo neonatal. Se encontraron 1584 publicaciones, incluyéndose 14 referencias, 6 revisiones, 6 presentaciones de casos y 2 artículos originales. Conclusión: HFNI está asociado a diversas patologías fetales y tiene alta mortalidad.
Objective: A series of cases of non-immune fetal hydrops (NIFH) is presented, aimed at reviewing the literature concerning its etiology and prognosis. Materials and methods: A series of cases diagnosed by ultrasonography at the Dr. Adolfo Prince Lara Hospital Perinatology Service in Venezuela, 20052009, is presented; this is a public reference hospital providing regional perinatal attention for the poorest strata of the population. A literature review was made using the Medline database via PubMed and the SciELO Latin-American database from 1995 to 2011, and in specialized books on the topic. Fetal hydrops was the key word used in the search. Results: 2,195 clinical histories were reviewed, finding 9 cases of NIFH (0.41 percent prevalence). There were two cases of monosomy, one infectionassociated case, two cases of cardiac malformation, a case of multiple malformations and etiology was not specified in three cases. Death occurred in all cases, whether in the uterus or during the neonatal period. 1,584 publications were found, including 14 references, 6 reviews, 6 case presentations and 2 original articles. Conclusion: NIFH is associated with differing fetal pathologies and involves high mortality.
Assuntos
Adulto , Feminino , Gravidez , Hidropisia Fetal , Diagnóstico Pré-Natal , Ultrassonografia Pré-NatalRESUMO
El presente caso comunica un signo ecográfico poco frecuente de toxoplasmosis congénita, la hidropesía fetal como única manifestación del compromiso fetal. El diagnóstico definitivo se realizó en el recién nacido, quien presentó hepatoesplenomegalia, coriorretinitis y ausencia de calcificaciones cerebrales, siendo la serología positiva para toxoplasmosis, tanto para la madre como al recién nacido.
This case reports a rare ultrasonographic sign of congenital toxoplasmosis, fetal hydrops, as the only manifestation of fetal compromise. Definitive diagnosis was done in the newborn who presented hepatosplenomegaly, chorioretinitis and absence of cerebral calcifications, being both mother and newborn positive for toxoplasmosis serology.
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Se comunica un caso de leucemia en un feto de 31 semanas que cursó con anemia severa, hidropesía y muerte intraútero. La evaluación sonográfica fetal mostró hidropesía severa con anemia cuantificada por Doppler de la arteria cerebral media. Se evidenció además visceromegalia y riñones aumentados de tamaño, con patrones que impresionaban como displasia renal. El feto falleció antes de poder completar otras pruebas diagnósticas. Se tuvo que inducir el parto vaginal, luego de lo cual se realizó necropsia del producto. Las pruebas histológicas post mórtem permitieron el diagnóstico de leucemia fetal.
A case of leukemia in a 31-week fetus with severe anemia, hydrops and intrauterine death is reported. Ultrasound evaluation showed severe hydrops and anemia quantified by Doppler of the medial cerebral artery, as well as visceromegaly and renal enlargement with signs of dysplasia. There was fetal demise before other diagnostic tests could be performed. Labor was induced. Post mortem examination of the product determined fetal leukemia.
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A rare mirror syndrome (Ballantyne syndrome) was seen in a woman who carried a hydropic fetus caused by fetal atrio-ventricular septal defect (AVSD). Diagnosis was made with confidence after ruling out cardiogenic pulmonary edema and preeclampsia. Placental pathology demonstrated multifocal villous edema and accelerated maturation of trophoblasts which may support the earlier reports about potential etiologic roles of the placenta to trigger the disease.
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La anemia diseritropoyética congénita se engloba dentro de un grupo raro y heterogéneo de trastornos eritrocitarios caracterizados por eritropoyesis ineficaz, anemia megaloblástica, hemosiderosis secundaria e hidrops fetal. Presentamos el caso de un feto de 20 semanas con hidrops como consecuencia de una anemia fetal intensa por eritropoyesis ineficaz. Ante el hallazgo de hidrops fetal no inmune es fundamental un diagnóstico etiológico precoz para ofrecer a la pareja las alternativas terapéuticas más adecuadas.
Congenital dyserythropoietic anemia is a rare group of heterogeneous disorders characterized by ineffective erythropoiesis, megaloblastic anemia, secondary hemosiderosis and fetal hydrops. We report a case of a 20 week old fetus with hydrops as a consequence of a severe fetal anemia resulting from ineffective erythropoiesis. When non-immune fetal hydrops is found, it is essential an early etiological diagnosis to give the parents the most appropriate therapeutic options.
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Humanos , Feminino , Gravidez , Adulto , Anemia Diseritropoética Congênita/complicações , Anemia Diseritropoética Congênita/diagnóstico , Hidropisia Fetal/etiologia , Aborto Eugênico , EritropoeseRESUMO
A newborn with antenatal diagnosis of fetal hydrops at 36 wk of gestation, presented with congestive heart failure (CHF) and generalized edema. Computed tomographic angiography showed marked dilatation of cerebral duro-venous system including vein of Galen (VOG), straight sinus, torcula and transverse sinus without evidence of arteriovenous fistulae at the vein of Galen. Dilatation of duro-venous system resolved with concomitant improvement in biventricular function and CHF with decongestive therapy. Such entity should be differentiated from more serious conditions like VOG malformation and venous sinus thrombosis.
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Veias Cerebrais/patologia , Dilatação Patológica , Dura-Máter/irrigação sanguínea , Edema/etiologia , Edema/terapia , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/terapia , Humanos , Hidropisia Fetal/diagnóstico , Recém-Nascido , Hipertensão Intracraniana/etiologia , Hipertensão Intracraniana/terapia , Remissão Espontânea , Tomografia Computadorizada por Raios XRESUMO
Se describe un caso de síndrome de Ballantyne de una paciente de 33 años con embarazo de 33 semanas quien consultó por presentar edema en miembros inferiores, cefalea y escotomas. La ecografía fetal demostró la presencia de feto único en presentación cefálica, edema de cuero cabelludo, hidronefrosis, gran cantidad de líquido en cavidad abdominal y torácica fetal acompañado de compresión del corazón y los pulmones hacia la columna vertebral, realizándose el diagnóstico de hidrops fetal. Se realizó cesárea por sufrimiento fetal agudo obteniendo un recién nacido con edema generalizado. El examen patológico de la placenta confirmó el diagnóstico por la presencia de vellosidades hidrópicas e inmadurasAU)
A case of Ballantyne syndrome is described in a 33 years-old patient with a 33 weeks pregnancy who consulted for presenting lower limbs edema, headache and blurred vision. Fetal ultrasonography showed the presence of cephalic unique fetus, scalp edema, hydronephrosis, large amount of fluid in fetal abdominal and thoracic cavities accompanied with hearth and lungs compression to spinal cord, diagnosing fetal hydrops. Cesarean section was performed due to acute fetal distress obtaining a newborn with generalized edema. Pathological examination of placenta confirmed the presence on hydropic and immature placental villi
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Gravidez , Desenvolvimento Fetal/fisiologia , Hidropisia Fetal/diagnóstico , Placenta/anormalidades , Ascite/patologia , Lesões Pré-Natais , Pressão ArterialRESUMO
Blood types are very important because they are associated with blood transfusion, the diagnosis of hematological diseases and the related diseases. Rh system is a major blood group system as ABO system. Major Rh antigen is Rh (D) antigen. Minor Rh antigens are Rh (C), (c), (E), (e) antigen. Most of people have Rh (C), (c), (E), (e) antigen but some people don't have these antigens. The hematologists call this blood type -D-/-D- blood phenotype. -D-/-D- phenotype is blood group that have (D) antigen without (C), (c), (E), (e) Antigen. This blood type is rare throughout the world. Especially, fetal hydops associated with anti-C,-c,-E,-e antibody is very rare. We experienced a case of fetal hydrops associated with anti-C,-c,-E,-e antibodies and report it with a brief of literatures.
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Anticorpos , Transfusão de Sangue , Diagnóstico , Doenças Hematológicas , Hidropisia Fetal , FenótipoRESUMO
Multiple pterygium syndrome is an inherited condition characterized by joint pterygium and flexion contracture, in association with other abnormalities such as fetal hydrops, cystic hygroma, club foot, intrauterine growth retardation and hypoplastic lungs. It is usually inherited as an autosomal recessive trait, although X-linked recessive inheritance is also reported. The pathogenesis has been suggested to be early onset fetal akinesia, fragile collagen or generalized edema. Prenatal diagnosis of multiple pterygium syndrome is possible by demonstrating severe limb contractures, absence of fetal limb motion and progressive fetal edema in mid-pregnancy, but in case with a family history of this syndrome, ultrasound studies should be started in the first trimester. We have experienced a multiple pterygium syndrome with a history of recurrent fetal hydrops, so report on the prenatal sonographic findings of this case with brief review of literatures.
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Feminino , Humanos , Gravidez , Colágeno , Contratura , Edema , Extremidades , Retardo do Crescimento Fetal , Pé , Hidropisia Fetal , Articulações , Pulmão , Linfangioma Cístico , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Pterígio , Ultrassonografia , TestamentosRESUMO
We experienced a case of fetal supraventricular tachycardia (SVT) with fetal ascites diagnosed at 29 weeks of gestation in 29 year-old primigravida woman. Transplacental fetal therapy with maternal oral antiarrhythmic agent (verapamil, diltiazem) resulted in restoration of normal fetal sinus rhythm and disappearance of fetal ascites. At birth, the infant did not show any cardiac arrhythmia and hydropic appearance.
Assuntos
Adulto , Feminino , Humanos , Lactente , Gravidez , Arritmias Cardíacas , Ascite , Diltiazem , Terapias Fetais , Hidropisia Fetal , Parto , Taquicardia Supraventricular , VerapamilRESUMO
Cytomegalovirus (CMV) is the most common viral cause of intrauterine infection, and it is the major infectious factor known to be associated with congenital mental retardation and deafness. We had experienced two cases of congenital cytomegalovirus infection at our department of Obstetrics and Gynecology, Chosun University School of Medicine. In both cases, prenatal ultrasonography was abnormal and suggested intrauterine infection and their outcome were different. We present these cases with brief literatures.