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

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.

Intrauterine transfusion of a hydropic fetus with anemia due to a giant chorioangioma: A case report.

Giant chorioangiomas are a potentially life-threatening condition that may require intrauterine therapy. We describe a case of a large chorioangioma (>4cm) diagnosed at 30 weeks of gestation causing severe fetal anemia and hydrops. An intrauterine blood transfusion was performed at 31 weeks with reversal of the anemia and hydrops. The neonate was born at 37 weeks showing respiratory distress syndrome that required neonatal intensive care unit admission but was discharged at 30 days of life. Further evaluation at two months of age showed no signs of abnormal neurodevelopment. When timely indicated, intrauterine transfusion of a hydropic fetus with anemia due to a giant chorioangioma is a potentially life-saving therapy that shows good neurodevelopment of the surviving fetus.

Severe fetal anaemia caused by congenital cytomegalovirus infection.

A 22-year-old pregnant woman was referred to our fetal medicine unit due to severe fetal growth restriction at 26 weeks of gestation. An extensive detailed ultrasound revealed signs of bilateral periventricular hyperechogenicity, suggesting fetal infection potentially due to cytomegalovirus (CMV). Doppler ultrasound showed a high peak systolic velocity in the middle cerebral artery. Percutaneous umbilical cord blood sampling confirmed fetal CMV infection and severe fetal anaemia. We present this case to highlight the importance of fetal anaemia, which can be fatal regardless of whether it is associated with generalised oedema or hydrops fetalis.

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.

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)

Estudo da etiopatogenia da hidropisia fetal não-imune a partir de uma série de casos utilizando um protocolo de investigação ampliado / Study of etiopathogenesis of non-immune hydrops fetalis from a series of cases using an expanded investigation protocol

A hidropisia fetal não-imune (HFNI) é causada por um grupo heterogêneo de condições e atualmente corresponde à maior parte dos casos de hidropisia fetal. Em função da ampla diversidade etiopatogênica, a investigação dos casos de HFNI constitui um desafio diagnóstico. Esse estudo teve como objetivo a avaliação prospectiva e sistemática de uma série de casos de HFNI a partir de um protocolo de investigação ampliado, que incluiu a pesquisa de doenças metabólicas. O presente estudo também incluiu a revisão dos casos de HFNI registrados previamente pelo Programa de Genética Perinatal na maternidade da Unicamp. Durante aproximadamente dois anos (2010-2012), foram identificados 53 casos de HFNI. Nesse período, ocorreram 6.129 nascimentos na maternidade local, com registro de HFNI em 37 recém-nascidos, conferindo uma prevalência de 60 por 10.000 nascimentos, valor maior do que o observado no período anterior ao estudo (1987 a 2009). Para o restante da análise, quatro casos foram excluídos devido à impossibilidade de estudá-los adequadamente. A maioria dos hidrópicos nasceu pré-termo (43 - 73,5%). Houve registro de 23 nativivos (47%), 10 óbitos no período neonatal e 26 óbitos durante a gestação (53%), resultado em uma mortalidade geral (pré-natal e neonatal) de 73,4%. A hidropisia foi identificada no pré-natal na maioria dos casos (44 - 89,8%) e, apesar da condição ser comumente associada a mau prognóstico, em três pacientes (6,1%) houve resolução completa e espontânea da hidropisia durante a gestação. Os principais grupos diagnósticos encontrados foram: anomalias cromossômicas (17 casos - 34,7%), quadros sindrômicos (16,4% - oito casos), cardiopatias e infecções congênitas (8,2% - quatro casos cada). Os erros inatos do metabolismo (EIM) corresponderam a 6,1% da amostra (três casos de doenças de depósito lisossômico). Três casos (6,1%) foram classificados como idiopáticos.

Non-immune hydrops fetalis (NIHF) is caused by a hetereogenous group of conditions, currently accounting for the most cases of hydrops fetalis. Because of the wide etiopathogenic diversity, the investigation of NIHF cases constitutes a real diagnostic challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases from an expanded research protocol including the investigation of metabolic diseases. The present study also aimed to revise the NIHF cases previously recorded by Perinatal Genetics Program (PGP) in the maternity hospital of Unicamp. During approximately two years (2010-2012), 53 cases were identified. In this period, among 6,129 births that occurred in our hospital, NIHF was identified in 37 newborns, given a birth prevalence of 60 per 10,000, higher than that was observed in the previous period - 23:10,000 (1987-2009). For purpose of all other analysis, four of the 53 cases evaluated had to be excluded due to inability to assess them correctly. Most hydropic individuals were born preterm (43 - 73.5%). Twenty-three patients (47%) were live births, 10 of them died before hospital discharge; and 26 (53%) died in the prenatal period, given an overall mortality of 73.4%. The hydrops were identified in prenatal period in most cases (44 - 89.8%), and despite being commonly associated with poor prognosis, three cases (6.1%) had complete and spontaneous resolution of hydrops during pregnancy. The main diagnostic groups were chromosomal abnormalities (17 - 34.7%), syndromic (8 - 16.4%), isolated heart defects (4 - 8.2%), and congenital infections (4 - 8.2%). Inborn errors of metabolism (IEM) occurred in three cases (6.1%), all represented by lysosomal storage diseases. Three cases (6.1%) were classified as idiopathic.

Síndrome de Ballantyne (síndrome del espejo - mirror syndrome) / Ballantyne syndrome

Presentamos el caso de una gestante de 29 semanas que acude a urgencias por edemas en extremidades inferiores, un incremento ponderal en la última semana de 7 kg, oliguria y disnea. El feto presentaba un cuadro de ascitis y edema subcutáneo. Se realizó el diagnóstico de hidrops fetal no inmune, en el contexto de un síndrome de Ballantyne de causa desconocida. Inició trabajo de parto a los 7 días del ingreso y el puerperio cursó sin incidencias siendo dada de alta a las 48 horas post parto. El neonato precisó soporte respiratorio con ventilación no invasiva durante dos semanas y actualmente sigue controles periódicos en neonatología, con muy buena evolución.

We report a case of a 29 weeks pregnant who came to the emergency department because she presented oedema in lower extremity, weight increased in the last week of 7 kg, oliguria and dyspnoea. The fetus showed ascites and subcutaneous oedema. It was diagnosed a non-immune hydrops, in the context of Ballantyne syndrome of unknown cause. Childbirth was 7 days after admission and puerperium envolved normally, the patient was discharged at 48 hours postpartum. The neonate required respiratory support with non-invasive ventilation for two weeks and nowadays the baby is currently regular checks in neonatology, with a positive evolution.

[Nonimmune hydrops fetalis: two decades of experience in a university hospital]. / Hidropisia fetal não imune: experiência de duas décadas num hospital universitário.

PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥ 5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.

Hidropisia fetal não imune: experiência de duas décadas num hospital universitário / Nonimmune hydrops fetalis: two decades of experience in a university hospital

OBJETIVO: Identificar a etiologia da hidropisia fetal não imune em gestantes diagnosticadas e encaminhadas para acompanhamento pré-natal. MÉTODOS: Estudo retrospectivo com análise dos casos de hidropisia fetal não imune que foram acompanhados entre março de 1992 e dezembro de 2011. Os casos tiveram confirmação diagnóstica pela presença de edema de subcutâneo fetal (≥5 mm) com derrame em pelo menos uma cavidade serosa por meio da ultrassonografia obstétrica, e a investigação etiológica foi realizada com pesquisa citogenética (cariótipo), infecciosa (sífilis, parvovírus B19, toxoplasmose, rubéola, citomegalovírus, adenovírus e herpes simples), hematológica e metabólica (erros inatos), além de com ecocardiografia fetal. Foram excluídas as gestações gemelares. A análise estatística foi efetuada pelo teste do χ² para aderência (software R 2.11.1). RESULTADOS: Foram incluídas 116 pacientes com hidropisia fetal não imune, sendo que 91 casos (78,5%) tiveram a etiologia elucidada e 25 casos (21,5%) foram classificados como causa idiopática. A etiologia cromossômica foi a que apresentou maior número de casos, totalizando 26 (22,4%), seguida da etiologia linfática com 15 casos (12,9%, sendo 11 casos de higroma cístico), da etiologia cardiovascular e da infecciosa com 14 casos cada (12,1%). Os demais casos tiveram etiologia torácica em 6,9% (oito casos), síndromes malformativas em 4,3% (cinco casos), tumores extratorácicos em 3,4% (quatro casos), metabólica em 1,7% (dois casos), hematológica, gastrintestinal e geniturinária em 0,9% cada (um caso cada). No período pós-natal, foram seguidos 104 casos por até 40 dias de vida, 12 casos tiveram morte fetal intrauterina. A sobrevida desses 104 recém-nascidos foi de 23,1% (24 sobreviveram). CONCLUSÃO: a etiologia da hidropisia diagnosticada na gestação deve tentar ser esclarecida, uma vez que está associada a um amplo espectro de doenças. É especialmente importante para determinar se uma condição potencialmente tratável está presente e para identificar doenças com risco de recorrência em futuras gestações para aconselhamento pré-concepcional adequado.

PURPOSE: To identify the etiology of nonimmune hydrops fetalis cases in pregnant women diagnosed and referred for prenatal care. METHODS: Retrospective analysis of cases with nonimmune hydrops fetalis that were monitored between March 1992 and December 2011. Diagnosis was confirmed by the presence of fetal subcutaneous edema (≥5 mm) with effusion in at least one serous cavity using obstetric ultrasound, and etiological investigation was conducted with cytogenetic (karyotype), infectious (syphilis, parvovirus B19, toxoplasmosis, rubella, cytomegalovirus, adenovirus and herpes simplex), hematologic and metabolic (inborn errors) analysis and fetal echocardiography. Twin pregnancies were excluded. Statistical analysis was performed using the χ² test for adhesion (software R 2.11.1). RESULTS: We included 116 patients with nonimmune hydrops fetalis; the etiology was elucidated in 91 cases (78.5%), while 25 cases (21.5%) were classified as idiopathic. Most cases had a chromosomal etiology, for a total of 26 cases (22.4%), followed by lymphatic etiology with 15 cases (12.9% with 11 cases of cystic hygroma), and cardiovascular and infectious etiology with 14 cases each (12.1%). In the remaining cases, the etiology was thoracic in 6.9% (eight cases), malformation syndromes in 4.3% (five cases), extrathoracic tumors in 3.4% (four cases), metabolic in 1.7% (two cases), and hematologic, gastrointestinal and genitourinary in 0.9% (one case each). During the postnatal period, 104 cases were followed up until the 40th day of life, and 12 cases had intrauterine fetal death. The survival rate of these 104 newborns was 23.1% (24 survived). CONCLUSION: An attempt should be made to clarify the etiology of hydrops diagnosed during pregnancy since the condition is associated with a wide spectrum of diseases. It is especially important to determine whether a potentially treatable condition is present and to identify disease at risk for recurrence in future pregnancies for adequate pre-conception counseling.

Hidrops fetal por infección congénita por citomegalovirus: tratamiento posneonatal prolongado con valganciclovir / Hydrops fetalis due to congenital cytomegalovirus infection: prolonged postneonatal treatment with valganciclovir

El citomegalovirus (CMV) es la infección viral congénita más frecuente con una prevalencia de 0,5% al nacimiento. La primoinfección aparece entre el 1-4% de las gestantes seronegativas. El 40% de estos fetos se infectan y un 10% presentan síntomas al nacimiento. Presentamos un caso de infección congénita por CMV con hidrops fetal, con afectación neonatal del sistema nervioso central. Se trató con ganciclovir intravenoso y posteriormente con valganciclovir oral hasta los 6 meses, con buenos resultados al año de vida. Se realiza una revisión bibliográfica del diagnóstico y pronóstico de los recién nacidos con infección congénita por CMV y las expectativas y experiencia actual del tratamiento con ganciclovir y valganciclovir.

Cytomegalovirus (CMV) is the leading cause of congenital infection affecting 0.5% of all live births. Primary CMV infection occurs in 1-4% of seronegative woman during pregnancy and may be transmitted to the fetus in 40%. Up to 10% of intrauterine CMV infections result in symptomatic congenital disease at birth. We present a case of congenital CMV infection in the third trimester of gestation with central nervous disease involvement, who was treated with intravenosus ganciclovir followed by oral valganciclovir for six months with successful results in the first year of life. We review the literature on the diagnosis and prognosis of newborns with congenital CMV infection and the expectations and current experience of treatment with ganciclovir and valganciclovir.

Transfusión intrauterina en hidrops fetal por Parvovirus B19: a propósito de un caso clínico / Intrauterine transfusion for hydrops fetalis by parvovirus B19 infection: a case report

Hidrops fetal no inmunológico diagnosticado a las 22 semanas de gestación, secundario a infección por Parvovirus B19, tratado exitosamente con cinco transfusiones intrauterinas. Parto vaginal con recién nacido de término sin estigmas de enfermedad. Enfatizamos la importancia de sospechar el diagnóstico, el manejo basado en Vmax de ACM y la capacidad actual de tratamiento exitoso a través de transfusiones intrauterinas.

Non immunologic hydrops fetalis diagnosed at 22 weeks of gestation, secondary to infection by Parvovirus B19, successfully treated with five intrauterine transfusions. Vaginal delivery at 37 weeks without stigmata of disease. We emphasize the importance of suspecting the diagnosis, management based on Vmax of ACM and the current capacity of successful treatment by intrauterine transfusion.

Lesão vascular da placenta condicionando RCIU e hidropisia fetal não imune em gestação gemelar / Placental vascular lesion as cause of IUGR and nonimmune fetal hydrops in twin pregnanc

As lesões vasculares da placenta constituem um grupo de entidades distintas, mas inter-relacionadas, em que se incluem os corioangiomas e a corangiomatose multifocal difusa. O corioangioma é uma lesão nodular expansiva com incidência de cerca de 1 por cento. A corangiomatose multifocal difusa é rara (0,2 por cento) e predominante em placentas em idade gestacional inferior a 32 semanas. Os autores apresentam um caso de gestação gemelar monocoriônica/biamniótica, no qual um dos fetos, à 26ª semana de gestação, apresentou quadro de restrição de crescimento intrauterino, hidropisia e anemia associado à formação tumoral da placenta com vascularização aumentada verificada pela doplervelocimetria. O estudo anatomopatológico da placenta permitiu o diagnóstico de corangiomatose multifocal difusa. Este raro caso de corioangiomatose multifocal difusa com forma de apresentação pré-natal mimetizando a de um corioangioma comprova que a detecção ultrassonográfica de um tumor da placenta com vascularização aumentada deve suscitar outras hipótese diagnóstica, além do corioangioma.

Placenta vascular lesions are a group of distinct yet related entities that include chorangiomas and diffuse multifocal chorangiomatosis. Chorangioma is an expansive nodular lesion with an incidence of about 1 percent. Diffuse multifocal chorangiomatosis is rare (0.2 percent) and mostly seen in placentas before the 32nd gestational week. The authors present a case of a monochorionic/biamniotic twin pregnancy, in which, at the 26th gestational week, one fetus developed intrauterine growth restriction (IUGR), hydrops, and anemia associated with a tumor of the placenta with increased vascularization in the Doppler study. Pathological examination of the placenta diagnosed diffuse multifocal chorangiomatosis. This rare case report of diffuse multifocal chorangiomatosis with prenatal manifestations resembling those of a chorangioma proves that prenatal ultrasound detection of a placenta tumor, with increased vascularization at Doppler study, must raise other diagnostic possibilities beside chorangioma.

[Analysis and perinatal outcome after intravascular transfusion]. / Análisis y resultados perinatales posteriores a una transfusión intravascular.

INTRODUCTION: the leading cause of fetal anemia is Rh isoimmunization. The timely diagnosis by ultrasound and intravascular transfusion improves the prognosis. OBJECTIVE: to evaluate the increase in hemoglobin in the fetus and correlate the red cell transfusion volume with elevation of hemoglobin and perinatal outcome. PATIENTS AND METHODS: prospective, case series study. We included 17 patients with fetal anemia detected by measuring the peak systolic velocity of middle cerebral artery and determination of fetal hemoglobin before and after cordocentesis. After confirmation of fetal anemia (Hb <10 g/dL), was held fetal transfusion with 50 mL/kg estimated fetal weight, with packed red blood cells type O Rh negative. RESULTS: In 17 cases fetal anemia was diagnosed, of which 11 (64%) had Rh isoimmunization and 6 (36%) were not immune. The 17 cases received 27 intravascular transfusions, in 75% hemoglobin rose to 10 g/dL, 45% in the first transfusion, 25% in the second and 10% in the third transfusion. Fetal hemoglobin between before and after transfusion was 6.5 and 12.9 g/dl, respectively (p<0.001) and allowed to continue the pregnancy from 3 to 12 weeks from the first transfusion. There were 4 deaths (2 stillbirths and 2 neonatal), but only one was related to the procedure. the survival rate was 76%, mortality in the presence of hydrops was 30% and no deaths in patients without hydrops. CONCLUSIONS: Mortality in fetal anemia was 23.6% and only one case was related to intravascular transfusion. In cases of survival to birth, pregnancy lasted >30 weeks gestation. Hemoglobin rose from 27 to 300% of the initial fetal hemoglobin. The presence of fetal hydrops significantly increases mortality.

Amniotic fluid amino acid levels in non-immune hydrops fetalis: a case-control study.

In a prospective case-control study, we compared the amniotic fluid amino acid levels in non-immune hydrops fetalis (NIHF) and normal fetuses. Eighty fetuses underwent amniocentesis for different reasons at the prenatal diagnosis unit of the Department of Obstetrics and Gynecology, Faculty of Medicine, Dicle University. Forty of these fetuses were diagnosed with NIHF. The study included 40 women each in the NIHF (mean age: 27.69 ± 4.56 years) and control (27.52 ± 5.49 years) groups, who had abnormal double- or triple-screening test values with normal fetuses with gestational ages of 23.26 ± 1.98 and 23.68 ± 1.49 weeks at the time of sample collection, respectively. Amniotic fluid amino acid concentrations (intra-assay variation: 2.26-7.85%; interassay variation: 3.45-8.22%) were measured using EZ:faast kits (EZ:faast GC/FID free (physiological) amino acid kit; Phenomenex, USA) by gas chromatography. The standard for quantitation was a mixture of free amino acids from Phenomenex. The levels of 21 amino acids were measured. The mean phosphoserine and serine levels were significantly lower in the NIHF group, while the taurine, α-aminoadipic acid (aaa), glycine, cysteine, NH(4), and arginine (Arg) levels were significantly higher compared to control. Significant risk variables for the NIHF group and odds coefficients were obtained using a binary logistic regression method. The respective odds ratios and 95% confidence intervals for the risk variables phosphoserine, taurine, aaa, Arg, and NH(4) were 3.31 (1.84-5.97), 2.45 (1.56-3.86), 1.78 (1.18-2.68), 2.18 (1.56-3.04), and 2.41 (1.66-3.49), respectively. The significant difference between NIHF and control fetuses suggests that the amniotic fluid levels of some amino acids may be useful for the diagnosis of NIHF.

Amniotic fluid amino acid levels in non-immune hydrops fetalis: a case-control study

In a prospective case-control study, we compared the amniotic fluid amino acid levels in non-immune hydrops fetalis (NIHF) and normal fetuses. Eighty fetuses underwent amniocentesis for different reasons at the prenatal diagnosis unit of the Department of Obstetrics and Gynecology, Faculty of Medicine, Dicle University. Forty of these fetuses were diagnosed with NIHF. The study included 40 women each in the NIHF (mean age: 27.69 ± 4.56 years) and control (27.52 ± 5.49 years) groups, who had abnormal double- or triple-screening test values with normal fetuses with gestational ages of 23.26 ± 1.98 and 23.68 ± 1.49 weeks at the time of sample collection, respectively. Amniotic fluid amino acid concentrations (intra-assay variation: 2.26-7.85 percent; interassay variation: 3.45-8.22 percent) were measured using EZ:faast kits (EZ:faast GC/FID free (physiological) amino acid kit; Phenomenex, USA) by gas chromatography. The standard for quantitation was a mixture of free amino acids from Phenomenex. The levels of 21 amino acids were measured. The mean phosphoserine and serine levels were significantly lower in the NIHF group, while the taurine, α-aminoadipic acid (aaa), glycine, cysteine, NH4, and arginine (Arg) levels were significantly higher compared to control. Significant risk variables for the NIHF group and odds coefficients were obtained using a binary logistic regression method. The respective odds ratios and 95 percent confidence intervals for the risk variables phosphoserine, taurine, aaa, Arg, and NH4 were 3.31 (1.84-5.97), 2.45 (1.56-3.86), 1.78 (1.18-2.68), 2.18 (1.56-3.04), and 2.41 (1.66-3.49), respectively. The significant difference between NIHF and control fetuses suggests that the amniotic fluid levels of some amino acids may be useful for the diagnosis of NIHF.

Prenatal diagnosis and natural history of fetuses presenting with pleural effusion.

OBJECTIVE: To describe the natural history of fetuses presenting with pleural effusion. METHODS: Between January 2005 and December 2009 all fetuses diagnosed with pleural effusion were followed up. Fetuses were divided into three groups: I, isolated pleural effusion; II, associated structural anomalies but normal karyotype; and III, chromosomal anomalies. Univariate and multivariate analyses were performed to determine the association between prenatal ultrasound findings and perinatal death. RESULTS: Fifty-six fetuses were included in the study. Associated structural or chromosomal anomalies occurred in 75.0% (42/56) of cases. Bilateral pleural effusion and fetal hydrops were associated with each other (p < 0.01) and with perinatal death (p < 0.05). Multivariate analysis indicated that only the presence of associated abnormalities was a statistical determinant of perinatal death (OR, 3.56; 95% CI, 1.48-5.64; p < 0.01). CONCLUSION: Fetal pleural effusion is often associated with other abnormalities, and this association has poor perinatal outcome.

[Placental vascular lesion as cause of IUGR and nonimmune fetal hydrops in twin pregnancy]. / Lesão vascular da placenta condicionando RCIU e hidropisia fetal não imune em gestação gemelar.

Placenta vascular lesions are a group of distinct yet related entities that include chorangiomas and diffuse multifocal chorangiomatosis. Chorangioma is an expansive nodular lesion with an incidence of about 1%. Diffuse multifocal chorangiomatosis is rare (0.2%) and mostly seen in placentas before the 32nd gestational week. The authors present a case of a monochorionic/biamniotic twin pregnancy, in which, at the 26th gestational week, one fetus developed intrauterine growth restriction (IUGR), hydrops, and anemia associated with a tumor of the placenta with increased vascularization in the Doppler study. Pathological examination of the placenta diagnosed diffuse multifocal chorangiomatosis. This rare case report of diffuse multifocal chorangiomatosis with prenatal manifestations resembling those of a chorangioma proves that prenatal ultrasound detection of a placenta tumor, with increased vascularization at Doppler study, must raise other diagnostic possibilities beside chorangioma.

Hidrops fetal no inmune por anemia diseritropoyética congénita / Nonimmune hydrops fetalis by congenital dyserythropoietic anaemia

La anemia diseritropoyética congénita se engloba dentro de un grupo raro y heterogéneo de trastornos eritrocitarios caracterizados por eritropoyesis ineficaz, anemia megaloblástica, hemosiderosis secundaria e hidrops fetal. Presentamos el caso de un feto de 20 semanas con hidrops como consecuencia de una anemia fetal intensa por eritropoyesis ineficaz. Ante el hallazgo de hidrops fetal no inmune es fundamental un diagnóstico etiológico precoz para ofrecer a la pareja las alternativas terapéuticas más adecuadas.

Congenital dyserythropoietic anemia is a rare group of heterogeneous disorders characterized by ineffective erythropoiesis, megaloblastic anemia, secondary hemosiderosis and fetal hydrops. We report a case of a 20 week old fetus with hydrops as a consequence of a severe fetal anemia resulting from ineffective erythropoiesis. When non-immune fetal hydrops is found, it is essential an early etiological diagnosis to give the parents the most appropriate therapeutic options.

[Intrauterine transfusión in alloimmunization Rh in México 1987-2008]. / Transfusión intrauterina en aloinmunización rhD en México 1987-2008.

BACKGROUND: Diagnosis, care and prevention of hemolytic disease in fetuses and newborns is the most prominent historical example of a successful medical procedure aimed to abate perinatal morbidity and mortality caused by a disease which for centuries was described only unknown origin. OBJECTIVE: To review the perinatal outcome with intrauterine transfusion (IUT) in severe alloimmunization RhD over 21 years in a referral center of Mexico. The overall survival rate of fetuses and the relations with gestational age, and presence or absence of hydrops was analyzed. The authors present data about alloimmunization and a historical synopsis about IUT in México. MATERIAL AND METHOD: A retrospective study was conducted from January 1, 1987, to January 31, 2008. It was collected only RhD immunizations. Primary outcome variables included gestational age and presence or absence of hydrops, type and number of IUT in each case, and we studied fetal and neonatal morbidity. RESULTS: A total of 531 IUTs were performed in 150 fetuses. Severe hydrops was found at start of intrauterine treatment in 67 cases (45%). The survival rate was closely related to absence or presence of hydrops (88 and 60%), respectively. There were 123 liveborn fetuses and the procedure-related fetal loss rate was low (1.9%). CONCLUSIONS: This study confirmed good outcome with IUT for fetal anemia and the loss rate was low and similar to another publications. The hydrops was the principal factor in the survival rate because late detection and referral of fetuses is critical for fetal and neonatal outcome.