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.

Free sialic acid storage disorders with fetal hydrops in a neonate / 中国当代儿科杂志

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.

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

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.

Foramen oval restrictivo intraútero: causa de hidrops fetal / Intrauterine restrictive oval foramen: cause of fetal hydrops

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)

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.

Flutter auricular neonatal: presentación de tres casos / Neonatal atrial flutter: Presentation of three cases

Resumen Introducción: El flutter auricular es un tipo poco frecuente de arritmia fetal y neonatal. A pesar de que puede conducir a graves morbilidades, como hidrops fetal o incluso el fallecimiento, el diagnóstico y tratamiento precoz confieren un buen pronóstico a la mayoría de los casos. Pacientes y métodos: Se presentan tres casos de flutter auricular, dos de inicio en periodo fetal y uno en periodo neonatal, y se revisa la literatura en relación con las características clínicas, diagnósticas y terapéuticas del flutter auricular fetal y neonatal. Resultados y discusión: En el flutter auricular fetal la terapia materna con fármacos antiarrítmicos es el tratamiento más empleado durante la gestación. El tratamiento postnatal más utilizado es la cardioversión eléctrica sincronizada. El flutter auricular no suele asociar cardiopatía estructural; la recidiva neonatal es poco habitual y normalmente no precisa la administración de tratamiento profiláctico.

Abstract Introduction: Atrial flutter is a rare type of fetal and neonatal arrhythmia. Although it can lead to serious morbidities such as fetal hydrops or even death, diagnosis and early treatment confer a good prognosis in most cases. Patients and methods: Three cases of atrial flutter are presented, two of which start in the fetal period and one in the neonatal period. The literature is reviewed in relation to the clinical, diagnostic and therapeutic characteristics of fetal and neonatal atrial flutter. Results and discussion: In fetal atrial flutter maternal therapy with antiarrhythmic drugs is the most used treatment during pregnancy. The most used postnatal treatment is synchronized electrical cardioversion. Atrial flutter does not usually associate structural heart disease, neonatal recurrence is uncommon and usually does not require prophylactic treatment.

Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of three families with recurrence of non-immune hydrops fetalis (NIHF) but negative result by copy number variation sequencing (CNV-seq).@*METHODS@#Amniotic fluid sample and/or abortive tissues of the fetuses were collected and subjected to CNV-seq analysis. Peripheral blood samples of the parents were also taken for trio whole exome sequencing (trio WES).@*RESULTS@#Fetus 1 was found to harbor heterozygous c.976G>T(p.Glu326*) variant of the SOX18 gene in addition with compound heterozygous variants c.844C>T(p.Arg282Trp) and c.9472+1G>A of the RYR1 gene. The three variants were all inherited from its parents and have been associated with the etiology of NIHF. Based on the American College of Medical Genetics and Genomics (ACMG) standards and guidelines, the c.976G>T variant of SOX18 gene and c.9472+1G>A of RYR1 gene were predicted to be pathogenic (PVS1+PM2+PP3+PP4, PVS1+PM2+PP3), and c.844C>T variant of RYR1 gene to be likely pathogenic (PM1+PM2+PP3). Fetus 2 was found to harbor compound heterozygous variants c.6682C>T(p.Gln2228*) and c.4373_4383del(p.Val1458Alafs*63) of the PIEZO1 gene. Both variants were also inherited from its parents and are associated with the etiology of NIHF. Based on ACMG standards and guidelines, both c.6682C>T and c.4373_4383del variants of PIEZO1 gene were predicted to be pathogenic (PVS1+PM2+PP4, PVS1+PM2). Fetus 3 was found to harbor compound heterozygous variants of the TTN gene c.29860G>C(p.Asp9954His) and c.21107A>T(p.Asp7036Val), which were respectively inherited from its parents. Both variants have been strongly associated with the phenotype, though the connection between the etiology of NIHF and variants of the TTN gene remains elusive. Based on ACMG standards and guidelines, the c.29860G>C and c.21107A>T variants of TTN gene were predicted to be likely pathogenic (PM1+PM2+PP3).@*CONCLUSION@#Trio WES can improve the diagnosis rate of NIHF with a negative result by CNV-seq. Considering the urgency of prenatal diagnosis, CNV-seq and trio WES should be carried out at the same time for fetuses with NIHF.

Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos / Hereditary xerocytosis. Presentation of two pediatric cases

La xerocitosis hereditaria es un desorden poco frecuente causado por defectos en la permeabilidad eritrocitaria, que se caracteriza por anemia hemolítica de gravedad variable y sobrecarga de hierro. El diagnóstico suele ser tardío y confundirse con otras anemias hemolíticas, lo que puede llevar a indicaciones de procedimientos, como la esplenectomía, contraindicados en estos pacientes. Se reportan las características clínicas, hematológicas y moleculares de dos pacientes pediátricos no relacionados con diagnóstico de xerocitosis hereditaria. Ambos presentaban eritrocitos deshidratados con alta concentración de hemoglobina corpuscular media, frotis no patognomónico, marcadores de hemólisis y una curva de fragilidad osmótica resistente. El diagnóstico se confirmó por la secuenciación del gen PIEZO.Se resalta la importancia de reconocer la causa de la anemia hemolítica para dar un enfoque terapéutico preciso y dar adecuado consejo genético

Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can lead to procedural indications, such as splenectomy, contraindicated in these patients. We report the clinical, haematological, and molecular characteristics of two patients from two unrelated families affected by hereditary xerocytosis. Both patients had dehydrated erythrocytes with a high concentration of mean corpuscular hemoglobin, non-pathognomonic smears, markers of hemolysis and a resistant osmotic fragility curve. The diagnosis was confirmed by the sequencing of the PIEZO gene. We emphasize the importance of recognizing the cause of hemolytic anemia to give an accurate therapeutic approach and give adequate genetic counseling.

Hidrops fetal una complicacion de coriangioma placentario gigante: presentación de un caso y revisión de la literatura / Fetal hydrops, a complication of placental gigant chorioangioma: case presentation and literature review

El corioangioma gigante es el tumor benigno placentario más frecuente, tienen una prevalencia estimada que varía de uno de cada 9000 a 50 000 embarazos.1 Se consideran de gran tamaño cuando son mayores de 5 cm y se relacionan con mayor frecuencia a complicaciones maternofetales como anemia fetal, polihidramnios, insuficiencia cardiaca fetal, hidrops, restricción del crecimiento intrauterino (RCIU), parto pretérmino y un aumento de la morbimortalidad perinatal. Un diagnóstico precoz permite mejorar los resultados perinatales realizando un estricto seguimiento, así como los tratamientos que estén indicados, cuando aparezcan dichas complicaciones.

Giant chorioangioma is the most frequent placental benign tumor, with an estimated prevalence or one in 9,000 to 50,000 pregnancies. They are considered large when they are larger than 5 cm and are more frequently associated with maternal-fetal complications such as fetal anemia, polyhydramnios, fetal heart failure, hydrops, intrauterine growth restriction (IUGR), preterm delivery and an increase in perinatal morbidity and mortality. An early diagnosis allows to improve the perinatal results by carrying out a strict follow-up, as well as establishing the indicated treatments, when these complications appear.

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.

Hídrops fetal no inmunológico / Non-Immune Fetal Hydrops

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)

Prognosis of fetuses with cystichygroma and nuchal translucency/nuchal fold thickening on prenatal echography / 浙江大学学报·医学版

OBJECTIVE@#To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography.@*METHODS@#From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. The cases were grouped by prognosis and the factors affecting prognosis were analyzed with logistic regression.@*RESULTS@#There were 85 cases of labor induction including one stillbirth and 39 cases delivered. Except one infant who died after birth, all live births survived with good prognosis. Univariate analysis showed that the gestational age at diagnosis of poor prognosis group was earlier than that of good prognosis group (<0.01); and the former group also had higher hydrops fetalis rate and additional structural anomalies rate (all <0.01). Multivariate regression analysis showed that hydrops fetalis (=90.105, <0.05) and additional structural anomalies (=61.854, <0.05) were risk factors of poor prognosis in fetuses with CH and NT/NF thickening.@*CONCLUSIONS@#Fetuses with diagnosed CH or NT/NF thickening on prenatal ultrasonography are likely to be associated with chromosomal abnormality. Early gestational weeks, hydrops fetalis and additional structural anomalies may indicate poor prognosis.

Clinical features and prognosis of neonates with nonimmune hydrops fetalis / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features, etiology and prognosis of neonates with nonimmune hydrops fetalis (NIHF).@*METHODS@#A retrospective analysis was performed for the clinical data and outcomes of 23 neonates with NIHF.@*RESULTS@#Of the 23 neonates with NIHF, 18 (78%) were preterm infants and 5 (22%) were full-term infants; 12 (52%) had birth asphyxia (including 5 cases of severe asphyxia). As for the causes of NIHF, 8 neonates (35%) had twin-twin transfusion syndrome (TTTS), 3 (13%) had cardiovascular malformation, 3 (13%) had parvovirus B19 infection, 2 (9%) had congenital chylothorax, 1 (4%) had Turner syndrome, 1 (4%) had Coxsackie virus infection, and 5 (22%) had unknown etiology. Of the 23 neonates, 13 achieved clinical cure, 10 died, resulting in a neonatal mortality rate of 43%. Compared with the survival group, the death group had a significantly higher proportion of preterm infants or infants with asphyxia, 5-minute Apgar score<8 or heart failure (100%/100%/60%/60% vs 62%/15%/8%/8%; P<0.05).@*CONCLUSIONS@#Birth asphyxia is common in neonates with NIHF. The neonates with a lower gestational age, a more serious asphyxia or heart failure have a higher risk of death in the neonatal period. Being the recipient of TTTS is a major cause of NIHF.

Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy / 中华医学遗传学杂志

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.

Meconium Peritonitis: A Rare Treatable Cause of Non-Immune Hydrops / 대한소아소화기영양학회지

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.

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.

Bloqueio atrioventricular congênito / Congenital atrioventricular block

O bloqueio atrioventricular total congênito ocorre em aproximadamente 1/20.000 nascidos vivos e está associado a aumento de mortalidade e morbidade fetal. O bloqueio atrioventricular total congênito pode ser secundário a processos imunológicos e não imunológicos. Os bloqueios atrioventriculares totais congênitos de etiologia imunológica estão associados à passagem transplacentária de anticorpos maternos anti-RO/SSA e anti-La/SSB. Esses anticorpos provocam lesão no sistema cardíaco de condução de fetos suscetíveis. Nesta revisão foi analisada a fisiopatologia do bloqueio atrioventricular total congênito, o papel da terapia transplacentária e as indicações de marcapasso

Congenital complete atrioventricular block is observed in approximately 1 in 20,000 live births and is associated to increased fetal mortality and morbidity. Complete atrioventricular block may be secondary to immune or non-immune processes. Immune-mediated congenital complete atrioventricular blocks are associated with the transplacental passage of anti-Ro/SSA and anti-La/SSB maternal antibodies. These antibodies damage the conduction tissue of susceptible fetuses. This report examines the pathophysiology of congenital complete atrioventricular block, the role of transplacental therapy and pacemaker indication

Tumor maligno congénito. Síndrome de Pepper / Congenital malignant tumor: Pepper's Syndrome

Pepper's syndrome refers to a neuroblastoma originated in the adrenal glands that usually metastasizes to the liver with abdominal development and respiratory involvement because of thoracic compression. The metastasic tumors are usually infrequent with an unfavorable prognosis. The cases reported in the world literature are very few. The congenital form of neuroblastoma is uncommon. The aim of this report was to describe a typical clinical case of a new born who died because of a metastasic malignant tumor, comptible with a Pepper's syndrome