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Objective:To conjecture the correlation between fetal hydrothorax(FHT)and pregnancy outcome through the analysis of 95 fetuses with hydrothorax and their mothers.Methods:In this case series study, 95 FHT patients admitted to the Third Affiliated Hospital of Zhengzhou University from January 2016 to October 2022 were retrospectively analyzed.According to the pregnancy outcome, these patients were divided into the induced labor group (13 patients) and the delivery group (82 patients). General data and genetic examinations of patients in the induced labor group were analyzed to explore their pathogenesis and genetics.According to the neonatal Apgar score, patients in the delivery group were divided into the normal group and the asphyxia group.Fifteen indicators including the maternal age, gestational week at first diagnosis, maternal complications, FHT location, FHT severity, FHT outcome during pregnancy, fetal ascites, hydrops fetalis, other abnormal fetal structures, amniotic fluid volume, intrauterine treatment, gestational week of delivery, mode of delivery, sex of the newborn, and newborn birth weight in the 2 groups were comparatively analyzed by the chi-square test.With the neonatal Apgar score as the dependent variable, variables that had statistical significance during the univariate analysis were included in the regression analysis, and a multivariate binary Logistic regression equation was established to explore the factors affecting the pregnancy outcome.Results:There were significant differences in the FHT outcome during pregnancy (16/22/13 cases vs.2/18/11 cases, χ2=6.994, P=0.030), FHT severity (27/24 cases vs.9/22 cases, χ2=4.475, P=0.034), hydrops fetalis (14/37 cases vs.23/8 cases, χ2=17.012, P=0.001), amniotic fluid volume (21/30 cases vs.24/7 cases, χ2=10.228, P=0.001), intrauterine treatment (19/32 cases vs.2/29 cases, χ2=9.603, P=0.002), gestational week of delivery[(38.15±2.05) weeks vs.(34.83±3.14) weeks, t=5.748, P=0.001], and newborn birth weight[(3 325.00±637.41) g vs.(2 714.58±837.99) g, t=3.727, P=0.001]between the normal and asphyxia groups(all P<0.05). Among them, hydrops fetalis ( OR=7.070, P=0.020) and severe FHT ( OR=6.927, P=0.043) were risk factors for neonatal Apgar scores.Intrauterine treatment ( OR=0.062, P=0.027) and gestational week of delivery( OR=0.577, P=0.022) could be used as a protective factor for neonatal Apgar scores. Conclusions:Diagnosis of FHT during the early gestational weeks and multiple fetal structural abnormalities, especially hydrops fetalis, have higher probabilities of abnormal genetic examinations, and the fetal prognosis was poor.It is recommended to carry out chromosomal karyo type and microarray tests, as well as whole exome sequencing and detection of genetic syndromes(if necessary), to avoid unnecessary fetal treatment and improve the survival rate of perinatal infants after intrauterine treatment.The poor prognosis is related to hydrops fetalis and severe FHT; however, timely intrauterine treatment and prolonging pregnancy can improve the pregnancy outcome and increase the survival rate of perinatal infants.
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SUMMARY OBJECTIVE: We aimed to compare the etiology and perinatal outcomes of non-immune hydrops fetalis diagnosed early- and late-onset at our hospital. METHODS: The records of the patients who applied to our department were reviewed, and we reached 42 non-immune hydrops fetalis cases retrospectively and examined the medical records. Hydrops diagnosis week, birth week, accompanying anomalies, and perinatal outcomes were compared as ≤12 weeks (early-onset) and >12 weeks (late-onset). RESULTS: The prevalence of non-immune hydrops fetalis was 0.05%, and the median week of diagnosis for hydrops was 18 weeks. Consanguinity (16.7%) was found in seven pregnancies, and the other seven patients (16.7%) had a history of hydrops in previous pregnancies. Anomalies of the skeletal system, central nervous system, and gastrointestinal tract accounted for 66.7% of ≤12 weeks in non-immune hydrops fetalis cases. Cardiac abnormalities were more common (26.7%) in patients at > 12 weeks (p=0.078). A statistically significant difference was found between the distribution of week of birth and week of diagnosis (p=0.029). Notably, 66.7% of patients diagnosed before week 12 and 23.3% of patients diagnosed after week 12 delivered their babies before week 24. Spontaneous intrauterine death occurred before week 12 in 45.5% (n=5) of non-immune hydrops fetalis and after week 12 in 39.1% (n=9) of non-immune hydrops fetalis. Notably, 69.2% (n=9) of the patients who had prenatal invasive testing resulted in normal karyotype. CONCLUSION: In this study, most of the fetuses diagnosed with early-onset non-immune hydrops fetalis were born in the first 24 weeks. Additionally, live birth rates and cardiac anomalies were observed to be higher in late-onset non-immune hydrops fetalis.
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Introducción. La isoinmunización Rh consiste en la producción de anticuerpos maternos en una gestante Rh negativa contra los antígenos de los eritrocitos Rh positivos fetales ocasionados por una hemorragia fetomaterna. En población gestante, el 15% son Rh negativo y la severidad de la afectación fetal está relacionada con una serie de procesos inmunológicos y la historia obstétrica. Si una gestante Rh negativa con riesgo de isoinmunización no recibe profilaxis con inmunoglobulina Anti-D se inmuniza el 16% en la primera gestación, el 30% en la segunda y el 50% después de la tercera. Con este reporte de caso queremos describir el subgrupo de pacientes gestantes con isoinmunización Rh bajas respondedoras. Presentación del caso. G9P5C1A2Gem1V7 de 43 años, remitida en semana 30 de gestación por isoinmunización Rh, no recibió inmunoglobulina Anti-D durante este embarazo, ni en los anteriores ni en el posparto, reporte de Coombs indirecto de 1/4 que se eleva a 1/16, seguimiento ecográfico normal. En semana 35.3 presenta anemia fetal leve y por tratarse de un embarazo alrededor del término se finaliza por cesárea. Recién nacido con adecuado peso para la edad gestacional, quien fue dado de alta a las 72 horas con evolución satisfactoria. Discusión. Las gestantes con isoinmunización Rh bajas respondedoras se sensibilizan con altos volúmenes sanguíneos sin repercusión hemodinámica in utero, produciendo una enfermedad hemolítica fetal leve. Esta respuesta inmune es poco frecuente y está asociada a factores protectores; sin embargo, son necesarios más estudios que sustenten esta condición. Conclusiones. El control prenatal y el Coombs indirecto cuantitativo seriado son las principales herramientas para la prevención de la isoinmunización. El conocimiento de la respuesta inmunológica permite identificar el subgrupo de las bajas respondedoras que tienen una evolución clínica más leve y menor morbilidad neonatal. Palabras clave: Embarazo; Isoinmunización Rh; Eritroblastosis Fetal; Globulina Inmune RHO(D); Hidropesía Fetal.
Introduction. Rh isoimmunization consists of a Rh-negative pregnant woman producing maternal antibodies against the antigens of fetal Rh-positive erythrocytes due to fetomaternal hemorrhage. 15% of the pregnant population is Rh negative, and the severity of fetal effects is related to a series of immunological processes and the obstetric history. If a Rh-negative pregnant woman at risk of isoimmunization does not receive a prophylaxis of Anti-D immunolobulin, 16% are immunized in the first pregnancy, 30% in the second and 50% after the third. In this case report we will describe the subgroup of low responder pregnant patients with Rh isoimmunization. Case Presentation. G9P5C1A2Gem1V7, 43 years old, referred on the 30th week of pregnancy due to Rh isoimmunization. She did not receive Anti-D immunolobulin during this pregnancy, nor in her previous pregnancies, nor during postpartum. Indirect Coombs report of 1/4, which increases to 1/16. Ultrasound monitoring is normal. At week 35.3 she presented mild fetal anemia, and because the pregnancy was near its term, it was ended by cesarean section. Newborn with adequate weight considering the gestational age, who was then discharged after 72 hours with satisfactory evolution. Discussion. Low responder pregnant women with Rh isoimmunization are sensitized with high blood volumes but without hemodynamic repercussions in utero, producing a mild fetal hemolytic disease. This immune response is infrequent and is associated with protective factors; however, further studies are required to support this condition. Conclusions. Prenatal control and serialized quantitative indirect Coombs testing are the main tools for the prevention of isoimmunization. Knowledge of the immunological response enables identifying the subgroup of low responders who present a milder clinical evolution and lower newborn morbidity. Keywords: Pregnancy; Rh Isoimmunization; Erythroblastosis, Fetal; RHO(D) Immune Globulin; Hydrops Fetalis.
Introdução. A isoimunização Rh consiste na produção de anticorpos maternos em uma gestante Rh negativa contra os antígenos dos eritrócitos fetais Rh positivos causados por hemorragia fetomaterna. Na população gestante, 15% são Rh negativos e a gravidade do envolvimento fetal está relacionada a uma série de processos imunológicos e ao histórico obstétrico. Se uma gestante Rh negativa com risco de isoimunização não receber profilaxia com imunoglobulina Anti-D, imuniza-se 16% na primeira gestação, 30% na segunda e 50% após a terceira. Com este relato de caso, queremos descrever o subgrupo de pacientes gestantes com isoimunização Rh de baixa resposta. Apresentação do caso. G9P5C1A2Gem1V7, 43 anos, encaminhada na 30ª semana de gestação para isoimunização Rh, não recebeu imunoglobulina Anti-D nesta gestação, nem nas anteriores nem no puerpério, laudo de Coombs indireto de 1/4 que sobe para 1/16, acompanhamento ultrassonográfico normal. Na semana 35,3, apresentou anemia fetal leve e por se tratar de uma gestação próxima ao termo, foi interrompida por cesariana. Recém-nascido com peso adequado para a idade gestacional, que recebeu alta às 72 horas com evolução satisfatória. Discussão. Gestantes com isoimunização Rh de baixa resposta são sensibilizadas com elevados volumes sanguíneos sem repercussões hemodinâmicas in utero, produzindo doença hemolítica fetal leve. Essa resposta imune é rara e está associada a fatores protetores; no entanto, mais estudos são necessários para fundamentar esta condição. Conclusões. O controle pré-natal e o Coombs indireto quantitativo seriado são as principais ferramentas para a prevenção da isoimunização. O conhecimento da resposta imunológica permite identificar o subgrupo de pacientes com baixa resposta que apresentam evolução clínica mais branda e menor morbidade neonatal. Palavras-chave: Gravidez; Isoimunização Rh; Eritroblastose Fetal; Inmunoglobulina RHO (D), Hidropisia Fetal.
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Isoinmunización Rh , Embarazo , Hidropesía Fetal , Globulina Inmune rho(D) , Eritroblastosis FetalRESUMEN
Introducción: la enfermedad hemolítica del feto y el recién nacido (EHFRN) consiste en la incompatibilidad presente entre los antígenos eritrocitarios maternos y los fetales, que desencadena en la madre una reacción inmunitaria contra los eritrocitos fetales produciendo su destrucción. La complicación más grave es la hidropesía fetal, la cual consiste en síntomas de origen hemodinámico, derivados de una falla cardíaca por la disminución en el aporte de oxígeno o por la falta de producción de albúmina. Objetivo: realizar una revisión actualizada de la EHFRN, exponiendo principalmente la hidropesía fetal como una de sus grandes complicaciones. Metodología: se realizó una revisión bibliográfica desde 2018 hasta 2021 en bases de datos tales como Science Direct, Pubmed y Medline con base en los siguientes términos MeSH: anemia hemolítica, isoinmunización Rh, eritroblastosis fetal, hidropesía fetal. Conclusión: la EHFRN es una causa frecuente de enfermedad hemolítica grave en estos pacientes, pero gracias a la Inmunoglubulina G anti-D se ha logrado prevenir la mayoría de casos de incompatibilidad Rh. Sin embargo, la hidropesía fetal presenta una alta mortalidad, lo cual hace importante promover un diagnóstico oportuno y el uso de profilaxis
Introduction: Hemolytic disease of the fetus and newborn (EHFRN) consists of the incompatibility present between maternal and fetal erythrocyte antigens, which triggers an immune reaction in the mother against fetal erythrocytes, causing their destruction. The most serious complication is hydrops fetalis, which consists of symptoms of hemodynamic origin, derived from heart failure due to the decrease in oxygen supply or the lack of albumin production. Objective: Make an updated review of the EHFRN, exposing mainly hydrops fetalis as one of its major complications. Methodology: Bibliographic review was carried out from 2018 to 2021 in databases such as Science Direct, Pubmed and Medline based on the following MeSH terms: hemolytic anemia, Rh isoimmunization, erythroblastosis fetalis, hydrops fetalis. Conclusion: EHFRN is a frequent cause of severe hemolytic disease in these patients; but thanks to the anti-D Immunoglobulin G, the majority of cases of Rh incompatibility have been prevented. However, hydrops fetalis has a high mortality rate, which makes it important to promote timely diagnosis and the use of prophylaxis
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Humanos , Recién Nacido , Recién Nacido , Hidropesía Fetal , Anemia Hemolítica , Eritroblastosis FetalRESUMEN
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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Congenital pulmonary airway malformation-volume ratio (CVR) greater than 1.6 or 2.0 cm2 was considered to be helpful in predicting fetal hydrops and could serve as an indicator for steroid application, forecasting respiratory symptoms, and the timing of surgery after birth. However, the optimal CVR threshold remains controversial. This review focuses on the value of CVR in fetal prognosis, steroid administration, and the prediction of postnatal respiratory symptoms and surgical timing in fetuses with congenital pulmonary airway malformation, aiming to guide the perinatal management.
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Objetivo: reportar el caso de una gestante con síndrome en espejo asociada a miocardiopatía no compactada (MNC), tanto en la madre como el feto, en los que el tratamiento médico antenatal en la madre llevó a un resultado materno perinatal favorable. Presentación del caso: se describe el caso de una primigestante de 16 años, con 33 semanas de embarazo, remitida desde una institución de primer nivel de atención a una institución privada de cuarto nivel en la ciudad de Medellín, Colombia, por presentar feto con hidropesía en ultrasonido obstétrico de control. Durante la hospitalización, la paciente presentó signos clínicos y ecocardiográficos de falla cardiaca (disnea, edema e hipoxemia), a la vez que se confirmó el diagnóstico de Hydrops fetalis (síndrome en espejo). Se instauró tratamiento diurético con furosemida en la madre, logrando mejoría del cuadro materno y del edema fetal. En el puerperio mediato hospitalario se confirmaron la presencia de miocardiopatía no compactada en la resonancia magnética nuclear cardiaca, tanto de la madre como del recién nacido. Ambos egresaron en adecuadas condiciones y fueron vinculados al programa de seguimiento cardiovascular: falla cardiaca y de cardiopatía congénitas, respectivamente. Conclusión: se presenta un caso de síndrome en espejo asociado a miocardiopatía no compactada materna y fetal. Es limitado el número de reportes de síndrome en espejo por anomalías cardiacas (maternas y fetales) y pobre la descripción de los tratamientos realizados que surgen como temas a investigar. Sería importante considerar el diagnóstico de MNC en fetos con hidropesía no asociados a isoinmunización y con disfunción cardiaca, así como su atención por equipos multidisciplinarios.
ABSTRACT Objective: To report the case of a pregnant woman with mirror syndrome associated with noncompaction cardiomyopathy in the mother and the fetus, in which antenatal medical treatment provided to the mother resulted in a favorable perinatal maternal outcome. Case presentation: A 16-year old primigravida with 33 weeks of gestation referred from a Level I institution to a private Level IV center in Medellín, Colombia, because of a finding of fetal hydrops on obstetric ultrasound. During hospitalization, the patient showed clinical and ultrasonographic signs of heart failure (dyspnea, edema and hypoxemia), with the diagnosis of hydrops fetalis (mirror syndrome) also confirmed. Diuretic treatment with furosemide was initiated in the mother, with subsequent improvement of the maternal condition as well as of the fetal edema. During the subacute postpartum period in the hospital, the presence of non-compaction cardiomyopathy was confirmed on cardiac nuclear magnetic resonance imaging in both the mother and the newborn. After discharge in adequated condition, they were included in the cardiovascular follow-up program for heart failure and congenital heart disease, respectively. Conclusion: A case of mirror syndrome associated with maternal and fetal non-compaction cardiomyopathy is presented. There is a limited number of reports on mirror syndrome due to cardiac anomalies (maternal and fetal), with weak treatment descriptions, pointing to the need for research in this area. It would be important to consider the diagnosis of non-compaction cardiomyopathy in fetuses with hydrops unrelated to isoimmunization or cardiac dysfunction and approach these cases from a multidisciplinary perspective.
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Humanos , Femenino , Embarazo , Recién Nacido , Lactante , Adolescente , Enfermedades Placentarias , Hidropesía Fetal , No Compactación Aislada del Miocardio Ventricular , Cardiomiopatías , Síndrome , Edema , FetoRESUMEN
RESUMEN Objetivo: Realizar un reporte de 4 casos de hídrops fetal secundario a sífilis congénita y hacer una revisión de la literatura para responder la siguiente pregunta: ¿cuál es el esquema antibiótico utilizado en los casos de sífilis gestacional complicada con hídrops fetal? Materiales y métodos: Se presentan 4 casos de sífilis congénita con hídrops fetal. La edad materna varió entre 17 y 28 años, la edad gestacional al momento del diagnóstico estuvo entre 25 y 30 semanas, dos de ellas no habían iniciado control prenatal en ese momento. En tres casos se dio tratamiento para sífilis gestacional inmediatamente con penicilina cristalina entre 6 y 12 semanas antes del parto y se formuló tratamiento a la pareja con penicilina benzatínica. Respecto a los recién nacidos, dos de ellos no tenían infección activa o secuelas, se consideró que uno de ellos tenía sífilis congénita por títulos de prueba no treponémica. En uno de los casos, la paciente no alcanza a recibir tratamiento para la sífilis gestacional antes del parto, este recién nacido tenía signos de infección activa. Se hizo una revisión de la literatura en las bases de datos Medline, LILACS y google scholar; los términos de búsqueda fueron los siguientes: "hídrops fetal", "lues", "syphilis - prenatal diagnosis- ultrasound - penicilina - treatment". Se buscaron reportes y series de casos o cohortes de recién nacidos con sífilis gestacional con hídrops fetalis. Se extrajo información sobre la madre y el recién nacido respecto al tratamiento. Resultados: Se identificaron 119 artículos, de estos 13 cumplieron con los criterios de inclusión, tres fueron descartados por no tener acceso al texto completo. Se incluyeron diez estudios de un total de 16 casos reportados con diagnóstico prenatal de hídrops fetal secundarios a infección congénita. De ellos, tres presentaron anemia fetal severa y requirieron transfusión intrauterina; 5 casos recibieron tratamiento intrauterino con penicilina. En cuatro casos la madre recibió penicilina benzatínica intramuscular por 3 semanas, uno recibió además penicilina cristalina endovenosa por 13 días, otro recibió penicilina cristalina endovenosa por 14 días. Un total de 11 casos no recibieron tratamiento durante la gestación; 6 de los 16 casos (37,5%) presentaron muerte perinatal. Conclusión: El retraso en acudir al control prenatal y la tardanza del diagnóstico y tratamiento de la sífilis gestacional son causas importantes de la persistencia de la sífilis congénita. Se requieren estudios aleatorizados para determinar el mejor tratamiento del feto con sífilis congénita en los 30 días previos al parto y del feto con compromiso sistémico durante la segunda mitad de la gestación.
ABSTRACT Objective: To report four cases of hydrops fetalis secondary to congenital syphilis and carry out a review of the literature to answer the question, What is the antibiotic regimen used in cases of gestational syphilis with hydrops fetalis as a complication? Materials and Methods: Four cases of congenital syphilis with hydrops fetalis are presented. Maternal age ranged between 17 and 28 years, gestational age at the time of diagnosis varied between 25 and 30 weeks, and two of the mothers had not initiated prenatal care at that time. Treatment with crystalline penicillin for gestational syphilis was given immediately 6 to 12 weeks before delivery in three cases and partners were prescribed treatment with benzathine penicillin. As for the neonates, two had no active infection or sequelae and one of them was considered to have congenital syphilis based on non-treponemal test titers. In one case, the patient was unable to receive syphilis treatment before delivery and her newborn had signs of active infection. A review of the literature was conducted in the Medline, LILACS and Google Scholar databases using the search terms "hydrops fetalis," "Lues", "syphilis - prenatal diagnosis - ultrasound - penicillin - treatment". The search included case reports and case series or cohorts of newborns with gestational syphilis and hydrops fetalis. Information regarding treatment in the mothers and in the newborns was extracted. Results: Overall, 119 articles were identified. Of these, 13 met the inclusion criteria, three were discarded because the full text could not be accessed. Ten studies with a total of 16 reported cases of hydrops fetalis secondary to congenital infection were reported. Of these, three presented with severe fetal anemia and required intrauterine transfusion; 5 cases received intrauterine penicillin treatment. In four cases the mother received weekly intramuscular injections of benzathine penicillin for 3 weeks, one received additional intravenous crystalline penicillin for 13 days, while another one received intravenous crystalline penicillin for 14 days. Treatment during gestation was not given in a total of 11 cases; and 6 of the 16 cases (37.5%) resulted in perinatal death. Conclusion: Delays in prenatal care and late diagnosis and treatment of gestational syphilis are important causes of persistent congenital syphilis. Randomized studies are required to identify the best treatment in fetuses with congenital syphilis 30 days before delivery and in fetuses with systemic compromise during the second half of gestation.
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Humanos , Femenino , Embarazo , Sífilis Congénita , Hidropesía Fetal , SífilisRESUMEN
@#Mirror syndrome is a rare clinical condition in pregnancy associated with significant fetal mortality and maternal morbidity. It is characterized by a triad of complications: fetal hydrops, placenta oedema, and maternal oedema. We are reporting one case of late-onset Mirror syndrome in which the patient presented later in the gestation of 36 weeks due to excessive weight gain and clinical sign mimicking preeclampsia. Awareness of this disease is essential, as a failure of recognition will delay the treatment and cause higher maternal and perinatal morbidity and mortality
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Hydrops fetalis is a clinical condition characterized by pathological fluid accumulation in soft tissues and serous cavities of the fetus like peritoneal cavity, pleural cavity, pericardial space, and body wall edema. Hydrops fetalis is broadly classified into Immune Hydrops Fetalis (IHF) and Non-Immune Hydrops Fetalis (NIHF). Incidence of immune hydrops fetalis due to Erythroblastosis fetalis secondary to Rh Iso-immunisation has drastically reduced due to widespread use of anti-D immunoglobulin. In the last few decades, the majority of cases are identified as non-immune hydrops. It is important to determine the cause of the hydrops fetalis in order to administer optimal management of the neonate at birth. Despite recent advances the mortality of non-immune hydrops is still high. Authors report here six cases of non-immune hydrops fetalis encountered at our tertiary care hospital over last three years.
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OBJECTIVE@#To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).@*METHODS@#The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.@*RESULTS@#The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a @*CONCLUSIONS@#The
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Adulto , Femenino , Humanos , Masculino , Embarazo , Feto Abortado/fisiopatología , Pestañas/patología , Factores de Transcripción Forkhead/genética , Mutación del Sistema de Lectura , Linfedema/patología , Fenotipo , Secuenciación del ExomaRESUMEN
RESUMEN OBJETIVO: el propósito es describir el efecto de los corticoides prenatales en la malformación congénita de la vía aérea pulmonar (MCVAP) mediante la evaluación secuencial del CVR y mostrar la experiencia en nuestro centro de terapia fetal. MATERIALES Y MÉTODOS: serie de casos en la cual se incluyeron ocho pacientes del Hospital de San José; con diagnóstico de MCVAP; se evaluó edad gestacional, el CVR (longitud x largo x ancho, en cms de la masa) x 0.523/circunferencia cefálica) como factor pronóstico, la desviación mediastínica, la presencia de hidrops, el tipo de MCVAP y la localización. Se aplicó betametasona a dosis de inducción de madurez pulmonar fetal. Se realizó la medición del CVR pre y pos tratamiento. Los datos obtenidos fueron analizados mediante el software estadístico SPSS (Versión 11.0 SPSS Inc. Chicago, IL). Se utilizaron la prueba Wilcoxon y el índice de correlación de Spearman según el caso. Un valor de p<0.05 se consideró significativo. RESULTADOS: ocho pacientes fueron incluidas. La mediana de la edad gestacional fue 30.5 semanas. Cuatro casos fueron tipo I, dos tipo II y dos tipo tres. Cuatro casos presentaron desviación mediastinal. Cinco casos fueron derechos y uno bilateral. Ningún caso presentó hidrops. El CVR pre tratamiento fue 0,93(RIQ:0,17-2,1) y pos tratamiento 0,55(RIQ:0,07-1,39). Se encontró una disminución del CVR pos tratamiento en todos los casos (p 0.0117) e índice de correlación de Spearman 0.9524 CONCLUSIÓN: Después de la aplicación de corticoides encontramos una disminución del CVR en todos los casos descritos. El uso de corticoides podría ser parte de la terapia prenatal con miras a mejorar el pronóstico.
ABSTRACT OBJECTIVE: The purpose of this study is to describe the effect of prenatal corticosteroids in the CPAM by sequential evaluation of the CVR, and to show the experience in our fetal therapy center. MATERIALS AND METHODS: Series of cases in which eight patients from the Hospital of San José were included; with diagnosis of CPAM; gestational age was evaluated, CVR (CVR = length x length x width cm, mass) x 0.523 / head circumference) as a prognostic factor, mediastinal shift, hydrops, type of CPAM, location. Betamethasone was applied to fetal lung maturation dose. In all patients underwent CVR measurement pre and post treatment. The data were analyzed using SPSS statistical software (Version 11.0 SPSS Inc. Chicago, IL). The Wilcoxon test and the Spearman correlation index were used according to the case. A value of p <0.05 was considered significant. RESULTS: eight patients were included. The median of gestational age was 30.5 weeks. Four cases were type I, two type II and two type three. Four cases were mediastinal shift. Five cases were rights and one bilateral. No case presented hydrops. The pretreatment CVR was 0,93(RIQ: 0,17-2,1) and post-treatment 0,55(RIQ: 0,07-1,39). We found a decrease in CVR after treatment in all cases (p 0.0117) and Spearman correlation index 0.9524 CONCLUSION: After application of corticosteroids are a reduction in CVR in all the cases described. The use of corticosteroids may be part of prenatal therapy to improve prognosis.
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Humanos , Femenino , Embarazo , Malformación Adenomatoide Quística Congénita del Pulmón/genética , Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Corticoesteroides/uso terapéutico , Mujeres Embarazadas , Hidropesía Fetal , Ultrasonografía , Edad Gestacional , Enfermedades Fetales/diagnóstico , FetoRESUMEN
Meconium peritonitis as a cause of non-immune hydrops in neonates is rarely reported. Here we report such a rare occurrence. In our case, a routine antenatal scan at 25 weeks revealed isolated ascites. By 31 weeks of gestation, all features of hydrops were observed in scans. However, antenatal workup for immune and non-immune hydrops was negative. Subsequently, a preterm hydropic female baby was delivered at 32 weeks. She required intubation and ventilator support. An X-ray revealed calcification in the abdomen suggestive of meconium peritonitis. Ultrasound showed gross ascites, a giant cyst compressing the inferior vena cava, and minimal bilateral pleural effusion. Emergency laparotomy revealed meconium pellets and perforation of the ileum. Double-barrel ileostomy was performed, and the edema resolved and activity improved. The baby was discharged after 3 weeks. Ileostomy closure was done at follow-up. The baby is growing well.
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Femenino , Humanos , Recién Nacido , Embarazo , Abdomen , Ascitis , Edema , Urgencias Médicas , Estudios de Seguimiento , Hidropesía Fetal , Ileostomía , Íleon , Intubación , Laparotomía , Meconio , Peritonitis , Derrame Pleural , Ultrasonografía , Vena Cava Inferior , Ventiladores MecánicosRESUMEN
Objective@#To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus.@*Methods@#DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing.@*Results@#The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c. 481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother.@*Conclusion@#Barth syndrome due to the c. 481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.
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Objective To investigate the outcomes of fetuses with hemolytic anemia caused by red cell alloimmunization following intrauterine transfusion (IUT),and to analyze the influence of hydrops fetalis on IUT treatment.Methods A retrospective analysis was conducted on 70 fetuses,who were admitted to the Fetal Medicine Center,the First Affiliated Hospital of Sun Yat-sen University from January 2005 to May 2018,with hemolytic disease requiring IUT.Clinical data of the fetuses and the gravidas were collected and divided into hydrops group (17 cases) and non-hydrops group (53 cases) based on their conditions before IUT.Results of routine blood tests before and after the first IUT,gestational age at the first IUT,prognosis and outcomes of the fetuses were compared between two groups.t-test,rank-sum test,Chi-square test (or Fisher's exact test) and multivariant logistic regression analysis were used for data analysis.Results Totally,the 70 fetuses underwent 231 times of IUT.Compared with the non-hydrops group,the hydrops group had a significantly increased incidence of severe anemia [14/17 vs 47.2% (25/53),x2=6.458,P=0.011],but decreased hemoglobin [(38.5 ± 21.4) vs (68.7± 19.3) g/L,t=5.471,P<0.001] and hematocrit level [0.110 (0.044-0.246) vs 0.222 (0.077-0.299),Z=-4.390,P<0.001] before the first IUT.After the IUT,the survival rate of the fetuses in hydrops group was significantly lower than that of the non-hydrops group [11/15 vs 94.3% (50/53),P=0.038].There was no significant difference in gestational age at birth,birth weight,neonatal hemoglobin level at birth,the incidence of exchange transfusion,the number of blood transfusions required or the incidence of severe neonatal complication between the two groups (all P>0.05).Logistic regression analysis indicated that the fetal hydrops was an independent risk factor for fetal survival (OR=12.8,95%CI:1.2-136.4,P=0.035).Conclusions Hydrops fetalis might reduce the survival rate of fetal hemolytic disease after 1UT.
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Abstract Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome.
Resumo A síndrome de espelho é uma patologia invulgar na qual o edemamaterno é observado em associação com hidropsia fetal e/ou placentária graves. Esta doença pode ser fatal paraamãe e para o feto. A sua patogênese émal compreendida, e pode ser confundida compré-eclâmpsia,mesmo comcaracterísticas distintivas identificadas. Relatamos um caso raro de síndrome de espelho com edema pulmonar materno associado a hidropsia fetal devido a síndrome de Patau.
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Humanos , Femenino , Adulto , Complicaciones del Embarazo , Hidropesía Fetal , Edema/complicaciones , Síndrome de la Trisomía 13/complicaciones , SíndromeRESUMEN
Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge. In the mediastinal location, they exert space occupying effects, leading to a myriad of complications, including non-immune hydrops fetalis. We describe a fatal case of an immature thymic teratoma in a neonate presenting with hydrops fetalis. This case emphasizes the importance of early diagnosis and surgical intervention in such cases.
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Humanos , Masculino , Recién Nacido , Hidropesía Fetal/diagnóstico , Neoplasias del Mediastino/complicaciones , Teratoma/complicaciones , Autopsia , Eritroblastosis Fetal/diagnóstico , Resultado Fatal , Hidropesía Fetal/patología , Teratoma/diagnóstico , Teratoma/patologíaRESUMEN
Objective:To determine the breadth of Zika virus (ZIKV)-associated brain anomalies in neonates and adults.Methods:Systematic review was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement using electronic databases ScienceDirect, Pubmed, Medline, Scopus, and Global Health Library. Only those research articles, case studies, case-control studies, case-cohort studies, cross-sectional studies, and organizational survey reports were included in the study that reported any fetal outcomes for pregnant women who had infected with ZIKV during the gestational period and ZIKV-related neurological complications in adults as well.Results:Out of total 72 retrieved articles, 50 met the inclusion criteria. We estimated a significant increase in incidence of neural abnormalities such as Guillain-Barre syndrome and microcephaly in the regions that are experiencing ZIKV outbreaks. Other neurological malformations found in ZIKV patients include hydrancephaly/hydrops fetalis, myasthenia gravis, meningoencephalitis and myelitis.Conclusion:Our systematic analysis provides the broad spectrum of neurological malformations in ZIKV infected patients and these data further support the causal link of ZIKV with neurological disorders.
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Objective To evaluate the safety and perinatal outcomes of thoracoamniotic shunting in the treatment of fetuses with severe primary hydrothorax. Methods 22 cases of suspected severe primary fetal hydrothorax which underwent thoraco-amniotic shunting in Shanghai First Maternity and Infant Hospital,Fetal Medicine Unit and Prenatal Diagnosis Center from January 2012 to December 2017 were analyzed retrospectively. Hydrothorax associated with structural or chromosomal abnormalities, infections and immune fetal hydrops were excluded. Results Totally ,28 shunts were placed in 22 fetuses. The median gestational age at TAS was 31.3 weeks. Preterm membrane rupture within 7 days after the procedure occurred in 9.1%(2/22) cases. Catheter displacement occurred in 18%(4/22) cases. The interval from shunting to delivery was 26.0 days. One fetus ended in induced abortion; 21(95%,21/22) babies were born alive, and their median gestational age at delivery was 34.4 weeks. 62%(13/21)newborns required ventilator supports; 4 neonatal deaths were attributed to pulmonary hypoplasia. The overall perinatal survival rate was 81%(17/21). The perinatal survival rate with hydrops and without hydrops were 10/13 and 7/8 respectively. Conclusion Thoraco-amniotic shunting is a safe procedure for intrauterine therapy and could improve the perinatal outcomes of severe primary fetal hydrothorax.
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Objective To investigate the pregnancy outcomes of non-immune hydrops fetalis (NIHF) in the era of intrauterine intervention. Methods We reviewed the medical records of 149 patients who were referred for NIHF and delivered at Fetal Medicine Unit, Shanghai First Maternity and Infant Hospital between March 2012 and March 2017. After systematic evaluation and consultation, 102 cases chose to terminate their pregnancies, 47 cases (31.5%) chose to continue their pregnancies, among which two cases were lost to follow-up. The rest 45 cases were divided into two groups according to whether they received intrauterine interventions or not, the intrauterine intervention group (n=18) and the control group (n=27), and the clinical characteristics and pregnancy outcomes were compared. Independent samples t-test or Kruskal-Wallis test, Chi-square test or Fisher exact test were applied for statistical analysis. Results The mean gestational age of the intervention group at diagnosis of NIHF was lower than that of the control group [26.5(23.4-30.0) weeks vs 30.3(29.0-32.0) weeks, χ2=7.427, P=0.006]. Compared with the control group, the intrauterine fetal death rate was slightly lower [25.9%(7/27) vs 1/18], the neonatal survival rate was slightly higher [37.0%(10/27) vs 11/18] in the intrauterine intervention group, although no statistically significance was observed (Fisher exact, P>0.05). In the intrauterine intervention group, the incidence of low Apgar score (<4) at both 1 and 5 min was 1/17 and 0/17, respectively, which was much lower than those of the control group [45%(9/20) and 35%(7/20), Fisher exact, both P<0.05]. Conclusions After overall prenatal evaluation, appropriate intrauterine interventions may improve the pregnancy outcomes in NIHF.