Human parvovirus B19 vertical infection and hydrops fetalis. A case report. / Infección vertical por parvovirus humano B19. A propósito de un caso de hidropesía fetal.

Non-immune hydrops fetalis represents a diagnostic challenge in high-risk pregnant women. Vertical infection with human parvovirus B19 (B19V) is a possible cause. National guidelines propose maternal serologic screening (IgG/IgM), which may be insufficient in some situations. We report a case of vertical B19V infection with difficulties in prenatal diagnosis. Preterm newborn, normal weight (2950 g), born to a 30-year-old mother with anemia and hydrops fetalis (week 17). Cardiac, chromosomal, isoimmunization-Rh, and usual infectious causes (TORCH) were ruled out. Maternal serology for B19V showed IgG+ and IgM-, and the diagnosis was dismissed. The newborn presented abdominal distension (ascites), anemia, and jaundice. Postnatal results confirmed the diagnosis with DNA+ for B19V. Discharge at 17 days with good evolution. The protocol for B19V screening in vertical infection needs to be revised by incorporating early molecular studies (PCR) from the early stages of gestation to optimize the diagnosis and treatment of patients with this congenital infection.

La hidropesía fetal no inmune representa un desafío diagnóstico en embarazadas de alto riesgo. La infección vertical por parvovirus humano B19 (B19V) es una causa posible. Las guías nacionales proponen pesquisas serológicas maternas (IgG/IgM) que pueden ser insuficientes en algunas situaciones. Se reporta un caso de infección vertical por B19V con dificultades en el diagnóstico prenatal. Recién nacido prematuro, peso adecuado (2950 g). Hijo de madre de 30 años, con anemia e hidropesía fetal (semana 17). Se descartaron causas cardíacas, cromosómicas, isoinmunización-Rh e infecciosas habituales (TORCH). Serología materna para B19V mostró IgG+ e IgM- desestimando el diagnóstico. El neonato presentó distensión abdominal (ascitis), anemia e ictericia. Resultados posnatales confirmaron diagnóstico con ADN+ para B19V. Alta a los 17 días con buena evolución. El protocolo de pesquisa de B19V en infección vertical requiere ser revisado incorporando precozmente estudios moleculares (PCR) desde etapas tempranas de la gestación, y así optimizar el diagnóstico y tratamiento de los pacientes con esta infección congénita.

Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.

BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of ß-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS) intravenous enzyme replacement therapy is an approved treatment for patients with MPS VII. METHODS: This disease monitoring program (DMP) is an ongoing, multicenter observational study collecting standardized real-world data from patients with MPS VII (N ≈ 50 planned) treated with vestronidase alfa or any other management approach. Data are monitored and recorded in compliance with Good Clinical Practice guidelines and planned interim analyses of captured data are performed annually. Here we summarize the safety and efficacy outcomes as of 17 November 2022. RESULTS: As of the data cutoff date, 35 patients were enrolled: 28 in the Treated Group and seven in the Untreated Group. Mean (SD) age at MPS VII diagnosis was 4.5 (4.0) years (range, 0.0 to 12.4 years), and mean (SD) age at DMP enrollment was 13.9 (11.1) years (range, 1.5 to 50.2 years). Ten patients (29%) had a history of nonimmune hydrops fetalis. In the 23 patients who initiated treatment prior to DMP enrollment, substantial changes in mean excretion from initial baseline to DMP enrollment were observed for the three urinary glycosaminoglycans (uGAGs): dermatan sulfate (DS), -84%; chondroitin sulfate (CS), -55%; heparan sulfate (HS), -42%. Also in this group, mean reduction from initial baseline to months 6, 12, and 24 were maintained for uGAG DS (-84%, -87%, -89%, respectively), CS (-70%, -71%, -76%, respectively), and HS (+ 3%, -32%, and - 41%, respectively). All adverse events (AEs) were consistent with the known vestronidase alfa safety profile. No patients discontinued vestronidase alfa. One patient died. CONCLUSIONS: To date, the DMP has collected invaluable MPS VII disease characteristic data. The benefit-risk profile of vestronidase alfa remains unchanged and favorable for its use in the treatment of pediatric and adult patients with MPS VII. Reductions in DS and CS uGAG demonstrate effectiveness of vestronidase alfa to Month 24. Enrollment is ongoing.

Etiology and perinatal outcomes between early and late-onset nonimmune hydrops fetalis

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.

Isoinmunización Rh en bajas respondedoras: Reporte de caso / Rh Isoimmunization in Low Responders: Case Report / Isoimunização Rh em pacientes com baixa resposta: relato de caso

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.

Human parvovirus B19 infection in a pregnant patient resulting in severe hydrops, foetal death and persistent infection.

Human parvovirus B19 (B19V) is the aetiological agent of erythema infectiosum. Primary infection during pregnancy can be transmitted to the foetus and cause foetal abnormalities related to depletion of erythrocyte progenitor cells, including congenital anaemia, hydrops, and foetal death. In this paper we report the detection of B19V infection in a pregnant patient, which onset occurred without appreciable signs and symptoms until she developed inappropriate contractions for gestational age and fluid loss. B19V infection resulted in severe hydrops fetalis with a fatal course for the foetus, while persisted in the mother at least 12 months after foetal death. The objective of this report is to highlight the importance of optimizing B19V diagnosis through early suspicion and testing during pregnancy. Knowing the mother's immune status before or at the beginning of gestation can contribute, together with early diagnosis, to improve the management of patients at risk.

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.

In this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal clinical manifestations. We opted to describe our findings according to the IEI categories established by the International Union of Immunological Societies, predominantly addressing the immunological features of each condition or group of diseases. The main finding is that such precocious manifestations are largely concentrated in the group of primary immune regulatory disorders (PIRDs) and not in the group of classical immunodeficiencies. The IEI categories with higher number of immunological manifestations in utero or in perinatal period are: (i) diseases of immune dysregulation (HLH, IPEX and other Tregopathies, autosomal recessive ALPS with complete lack of FAS protein expression) and (ii) autoinflammatory diseases (NOMID/CINCA, DIRA and some interferonopathies, such as Aicardi-Goutières syndrome, AGS, and USP18 deficiency). Regarding the other IEI categories, some patients with Omenn syndrome (an atypical form of SCID), and a few X-linked CGD patients present with clinical manifestations at birth associated to immune dysregulation. The most frequent clinical features were hydrops fetalis, intrauterine growth retardation leading to fetal loss, stillbirths, and prematurity, as in HLH and IPEX. Additionally, pseudo-TORCH syndrome was observed in AGS and in USP18 deficiency. The main goal of our review was to contribute to increasing the medical awareness of IEI with intrauterine and perinatal onset, which has obvious implications for diagnosis, treatment, and genetic counseling.

Hidropesía fetal y enfermedad hemolítica del feto y el recién nacido / Hydrops Fetalis and Hemolytic Disease of the fetus and the newborn. Update

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

¿Cuál es el rol actual de la toracocentesis en el hidrotórax fetal severo? Presentación de caso

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.

Mirror syndrome with noncompaction cardiomyopathy in the mother and fetus. Case report / Síndrome en espejo con miocardiopatía no compactada en la madre y el feto. Reporte de caso

Objective: To report the case of a pregnant woman with mirror syndrome associated with non-compaction 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 multi-disciplinary perspective.

Objetivo: reportar el caso de una gestante con síndrome en espejo asociada a miocardiopatía no compactada, 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.

Congenital syphilis with hydrops fetalis: report of four cases in a general referral hospital in Bogota, Colombia between 2016- 2020 / Sífilis congénita con hídrops fetal: reporte de cuatro casos en un hospital general de referencia en Bogotá, Colombia entre 2016- 2020

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.

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.

Síndrome en espejo con miocardiopatía no compactada en la madre y el feto. Reporte de caso / Mirror syndrome with noncompaction cardiomyopathy in the mother and fetus. Case report

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.

Sífilis congénita con hídrops fetal: reporte de cuatro casos en un hospital general de referencia en Bogotá, Colombia entre 2016- 2020 / Congenital syphilis with hydrops fetalis: report of four cases in a general referral hospital in Bogota, Colombia between 2016- 2020

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.

Utilidad de la quimioterapia con corticoides en la reducción de volumen de las lesiones en fetos con malformación congénita de la vía aérea pulmonar (MCVAP): serie de casos / Usefulness of chemotherapy with corticosteroids in reducing the volume of the lesions in fetuses with congenital pulmonary airway malformation (MCVAP): case series

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.

Mirror syndrome assocciated with patau syndrome: A case report / Síndrome de espelho associada a uma síndrome de Patau: um relato de caso

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.

Thymic teratoma presenting as non-immune hydrops fetalis.

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.

Thymic teratoma presenting as non-immune hydrops fetalis

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.

Hidrops fetal por flutter auricular: a propósito de un caso / Hidrops fetalis due to atrial flutter: Case study

Resumen Las arritmias en el período fetal que producen falla cardíaca conllevan aumento de la morbilidad y mortalidad fetal. La intervención sobre el feto dependerá de la edad gestacional al momento del diagnóstico, del tipo de arritmia, su repercusión y factores de riesgo asociados. Se presenta el caso clínico de un recién nacido con hidrops por flutter auricular. Se analiza la oportunidad y disponibilidad de su tratamiento.

Summary Arrhythmias in the fetal period that cause heart failure involve increased fetal morbidity and mortality. Intervention on the fetus depends on gestational age at the time of diagnosis, type of arrhythmia, its impact, and associated risk factors. The clinical case of a new born with hydrops fetalis due to atrial flutter is presented in the study, and opportunity and availability of treatment are analysed.

Síndrome de Ballantyne: reporte de caso

El síndrome de Ballantyne o síndrome en espejo es una entidad rara, cuya triada clásica es hidropesía fetal, edema materno generalizado y placentomegalia. Se asocia a alta morbimortalidad perinatal. Se presenta el caso de una paciente de 26 años, de 25 semanas de gestación, que acudió a emergencia del Instituto Nacional Materno Perinatal por edema de extremidades inferiores y disminución de movimientos fetales, además del diagnóstico ecográfico de hidropesía fetal con placentomegalia. Fue hospitalizada para estudio. Durante su internamiento se complicó con preeclampsia y óbito fetal. La culminación del parto fue por vía vaginal. Durante el puerperio hubo un mejoramiento rápido de los síntomas, siendo dada de alta a las 48 horas posparto.

Ballantyne syndrome or mirror syndrome is a rare entity with the classic triad of fetal hydrops, generalized maternal edema and placentomegaly. There is high perinatal morbidity and mortality. The case of a 26 year-old with 25 weeks of gestation hospitalized at Instituto Materno Perinatal emergency for leg edema and decreased fetal movements is reported. Fetal hydrops and placentomegaly were diagnosed by ultrasound. Preeclampsia and fetal death occurred during hospitalization. Following vaginal delivery there was rapid improvement of symptoms and the patient was discharged 48 hours postpartum.

Primary endocardial fibroelastosis and nonimmune hydrops fetalis: case report with autopsy.

Endocardial fibroelastosis is an important cause of congestive heart failure and death in infancy and early childhood. When present, it is commonly associated with non immune hydrops fetalis. The aim of this study is to draw attention for possible cardiac abnormalities in cases of fetal hydrops, and report a case of premature death by primary endocardial fibroelastosis with autopsy.

Hidropisia fetal não imune / Non-imune fetal Hydrops

A hidropisia fetal não imune é a presença de duas ou mais (?2) coleções de líquido no feto na ausência de aloimunização Rh. As mais comuns etiologias incluem anormalidades cardiovasculares, cromossomiais e hematológicas, seguidas por anomalias estruturais fetais, complicações da gemelaridade, infecção, e patologia placentária. A avaliação da hidropisia começa com o teste de Coombs indireto para verificar se é verdadeiramente não imune, avaliação do feto e da placenta, incluindo a ecocardiografia (arritmia), exame da artéria cerebral média para identificar a anemia, assim como o cariótipo/microarranjo cromossomial, mesmo que não seja constatada anomalia estrutural fetal. O tratamento recomendado depende da etiologia subjacente e da idade da gravidez; o parto pré-termo será proposto apenas por indicações obstétricas, incluindo a síndrome do ?espelho?. São candidatos à avaliação anteparto e ao corticoide, casos idiopáticos ou com etiologia passível de tratamento pré-natal ou pós-natal. Essas gestações devem ser interrompidas em um centro terciário com UTI neonatal capaz de tratar recém-nascidos criticamente comprometidos. A aneuploidia confere um mau prognóstico e, mesmo na sua ausência, a sobrevida neonatal é frequentemente <50%. A síndrome do ?espelho? é uma forma grave de préeclâmpsia que pode se desenvolver com a hidropisia fetal e na maioria dos casos necessita da interrupção da gravidez.(AU)

The nonimmune hydrops is the presence of two or more (?2) fluid collections in the fetus in the absence of Rh alloimmunization. The most common causes include cardiovascular, chromosomal and hematological abnormalities, followed by fetal structural abnormalities, complications of twin pregnancy, infection, and placental pathology. The evaluation of hydrops begins with the indirect Coombs test to see if it is really not immune, evaluation of the fetus and placenta, including echocardiography (arrhythmia), examination of the middle cerebral artery to identify anemia, and karyotyping/chromosomal microarray even if it is not detected fetal structural anomalies. The recommended treatment depends on the underlying etiology and gestational age; preterm birth should be proposed only for obstetric indications, including the ?mirror? syndrome. The antepartum evaluation and corticosteroids are indicated in idiopathic cases or etiology capable of prenatal or postnatal treatment. These pregnancies should be discontinued in a tertiary center with neonatal intensive care units capable of treating critically compromised newborns. The aneuploidy confers a poor prognosis and even in the absence of aneuploidy neonatal survival is often <50%. The ?mirror? syndrome is a severe form of preeclampsia that can be developed with fetal hydrops and in most cases requires the interruption of pregnancy.(AU)