Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling.

Complete trisomy 5 is a rare and lethal abnormality. Mosaic trisomy 5 presents in various phenotypes, ranging from a clinically normal fetus to fetuses presenting uterine growth restriction, congenital heart anomalies, multiple dysmorphic features and psychomotor development abnormalities. Although rare, there are cases of a normal psychomotor development regardless of the associated low fetal growth frequently associated with mosaic trisomy 5. This is the first case report to date of a live fetus with complete trisomy 5 reported in chorionic villus sampling and mosaic trisomy 5 in amniotic fluid with a concomitant Ebstein anomaly. Diagnosis of mosaic trisomy 5 represents a challenge for the clinical team and patients, as the information regarding this syndrome is scarce and based mostly on case reports of liveborns, which may introduce a selection bias when counselling the parents.

Twin Anemia-Polycythemia Sequence (TAPS): From Basic Research to Clinical Practice.

Twin pregnancy is associated with an increased risk of perinatal and maternal complications, and early establishment of the chorionicity type defines this risk. In monochorionic (MC) pregnancies, the fetuses share the same placental mass and exhibit vascular anastomoses crossing the intertwin membrane, and the combination and pattern of anastomoses determine the primary clinical picture and occurrence of future complications. Twin Anemia-Polycythemia Sequence (TAPS) was first described in 2006 after fetoscopic laser surgery in twin-to-twin transfusion syndrome (TTTS) twins, and in 2007, the first spontaneous cases were reported, recognizing TAPS as an individualized vascular identity in fetofetal transfusion syndromes. There are two types of TAPS: spontaneous (3-5%) and iatrogenic or postlaser (2-16%). TAPS consists of small diameter arteriovenous anastomoses (<1 mm) and low-rate, small-caliber AA anastomoses in the absence of amniotic fluid discordances. There are certain antenatal and postnatal diagnostic criteria, which have progressively evolved over time. New, additional secondary markers have been proposed, and their reliability is being studied. The best screening protocol for TAPS in MC twins is still a matter of debate. This review provides a survey of the relevant literature on the epidemiology, vascular pathophysiology, underlying hemodynamic factors that regulate mismatched vascular connections, and diagnostic criteria of this condition. The aim is to increase awareness and knowledge about this recently identified and frequently unrecognized and misdiagnosed pathology.

Pregestational Diabetes and Congenital Heart Defects / Diabetes pré-gestacional e defeitos cardíacos congênitos

Abstract Studies have consistently shown a significant increase in the risk of congenital heart defects in the offspring of diabetic mothers compared with those of nondiabetic pregnancies. Evidence points that all types of pregestational diabetes have the capacity of generating cardiac malformations in a more accentuated manner than in gestational diabetes, and there seems to be an increased risk for all congenital heart defects phenotypes in the presence of maternal diabetes. Currently, the application of some therapies is under study in an attempt to reduce the risks inherent to diabetic pregnancies; however, it has not yet been possible to fully prove their effectiveness. The present review aims to better understand the mechanisms that govern the association between pregestational diabetes and congenital heart defects and how maternal diabetes interferes with fetal cardiac development, as there is still a long way to go in the investigation of this complex process.

Resumo Estudos têm demonstrado consistentemente um aumento significativo no risco de defeitos cardíacos congênitos em filhos de mães diabéticas em comparação com os de gestações não diabéticas. Evidências apontam que todos os tipos de diabetes pré-gestacional têm capacidade de gerar malformações cardíacas mais acentuadas do que no diabetes gestacional e parece haver um risco aumentado para todos os fenótipos de cardiopatias congênitas na presença de diabetes materno. Atualmente, está em estudo a aplicação de algumas terapias na tentativa de diminuir os riscos inerentes à gravidez diabética; no entanto, ainda não foi possível comprovar totalmente a sua eficácia. A presente revisão visa compreender melhor os mecanismos que regem a associação entre diabetes pré-gestacional e cardiopatias congênitas e como o diabetes materno interfere no desenvolvimento cardíaco fetal, pois ainda há um longo caminho a percorrer na investigação deste processo complexo.

Doppler Ultrasound of the Umbilical Artery: Clinical Application / Ultrassonografia Doppler da artéria umbilical: Aplicação clínica

Abstract Objective To provide a survey of relevant literature on umbilical artery Doppler ultrasound use in clinical practice, technical considerations and limitations, and future perspectives. Methods Literature searches were conducted in PubMed and Medline, restricted to articles written in English. Additionally, the references of all analyzed studies were searched to obtain necessary information. Results The use of this technique as a routine surveillance method is only recommended for high-risk pregnancies with impaired placentation. Meta-analyses of randomized trials have established that obstetric management guided by umbilical artery Doppler findings can improve perinatal mortality and morbidity. The values of the indices of Umbilical artery Doppler decrease with advancing gestational age; however, a lack of consensus on reference ranges prevails. Conclusion Important clinical decisions are based on the information obtained with umbilical artery Doppler ultrasound. Future efforts in research are imperative to overcome the current limitations of the technique.

Resumo Objetivo Compilar informação relevante proveniente da literatura atual sobre a ultrassonografia Doppler das artérias umbilicais (AUs) na prática clínica, considerações e limitações técnicas e perspectivas futuras. Métodos A pesquisa bibliográfica foi realizada nos bancos de dados PubMed e Medline e restringiu-se a artigos escritos na língua inglesa. Recorreu-se também à bibliografia dos artigos selecionados, quando necessário, para obter informação relevante. Resultados A utilização desta técnica como método de vigilância de rotina está apenas recomendada emgravidezes de alto risco comdisfunção placentar.Metanálises de estudos randomizados mostraram que o seguimento obstétrico baseado nos achados do Doppler da artéria umbilical pode melhorar a mortalidade e a morbilidade perinatal. É consensual que os valores dos índices Doppler da AU decrescem com o avanço da idade gestacional. No entanto, há ainda muita incerteza quanto aos valores de referência. Conclusão As informações obtidas através da AU Doppler US são a base para muitas decisões clínicas importantes. Trabalhos de investigação nesta área são essenciais para tentar colmatar atuais limitações da técnica.

Preeclampsia and Fetal Congenital Heart Defects.

Endothelial dysfunction, impaired implantation and placental insufficiency have been identified as mechanisms behind the development of pre-eclampsia, resulting in angiogenic factors' alteration. Angiogenic imbalance is also associated with congenital heart defects, and this common physiologic pathway may explain the association between them and pre-eclampsia. This review aims to understand the physiology shared by these two entities and whether women with pre-eclampsia have an increased risk of fetal congenital heart defects (or the opposite). The present research has highlighted multiple vasculogenic pathways associated with heart defects and preeclampsia, but also epigenetic and environmental factors, contributing both. It is also known that fetuses with a prenatal diagnosis of congenital heart disease have an increased risk of several comorbidities, including intrauterine growth restriction. Moreover, the impact of pre-eclampsia goes beyond pregnancy as it increases the risk for following pregnancies and for diseases later in life in both offspring and mothers. Given the morbidity and mortality associated with these conditions, it is of foremost importance to understand how they are related and its causative mechanisms. This knowledge may allow earlier diagnosis, an adequate surveillance or even the implementation of preventive strategies.

Subcapsular hepatic haematoma in a pregnancy complicated by chronic hypertension.

Subcapsular haematoma of the liver in pregnancy is a rare complication, however life-threatening for both mother and fetus. Although it is usually associated with pre-eclampsia, a wide range of presentations can occur. Given its consequences, early diagnosis and management are essential for a successful outcome. Due to paucity of evidence, there is no current guidelines on this topic. Our aim is to add a new insight into diagnosis and management of subcapsular hepatic haematoma in pregnancy, for which new technologies in the fields of image, and minimal invasive surgery are playing an important role.

Modified pereira suture as an effective option to treat postpartum hemorrhage due to uterine atony / Sutura de Pereira modificada como uma opção eficaz para tratar a hemorragia causada por atonia uterina

Abstract Nowadays, postpartum hemorrhage is the major cause of maternal mortality and morbidity worldwide. Uterine atony is its main cause; thus, prophylactic measures, as well as medical and surgical fast approaches, have been developed to manage it. The uterine compression sutures are a possible treatment that preserves the uterus and, consequently, the fertility potential. Bearing that in mind, we report two cases of postpartum hemorrhage after caesarean section, successfully treated with a new modification of Pereira suture - longitudinal and transverse uterine sutures were applied after no response was registered to the first-line therapies. Both women recovered, and the postpartum evaluation revealed a normal uterus with an adequate blood supply, suggesting potential fertility, as described in the literature regarding this kind of therapeutic approach.

Resumo Atualmente, a hemorragia pós-parto é a maior causa de morbimortalidadematerna em todo o mundo. Sua principal causa é a atonia uterina, pelo que têm sido instituídas e desenvolvidas medidas profiláticas, bem como tratamentos médicos e cirúrgicos para esta complicação. As suturas uterinas de compressão representam uma possibilidade terapêutica que permite a preservação do útero e, por conseguinte, do potencial fértil. Tendo isso por base, apresentamos dois casos de hemorragia pós-parto após cesariana, que foram tratados com sucesso com uma nova modificação da sutura de Pereira - suturas uterinas longitudinais e transversais foram efetuadas após falha das terapias de primeira linha. Ambas as pacientes se recuperaram, e na reavaliação pós-parto objetivou-se um útero normal com manutenção de uma irrigação adequada, sugerindo a preservação do seu potencial fértil, tal como vem sendo descrito na literatura em relação a este tipo de procedimento.

[Successful pregnancies outcomes with the use of in vitro fertilization after Essure® unilateral hydrossalpinx occlusion]. / Gravidezes bem sucedidas com recurso a fertilização in vitro após oclusão de hidrossalpinge unilateral com Essure®

INTRODUCTION: Since two decades we witnessed the publication of several studies devoted to the study of the influence of the presence of hydrosalpinx on the results of embryo transfer techniques. The aim of this study is to present the results of treatment and pregnancy outcomes in women with a history of infertility associated with unilateral hydrosalpinx, visible on vaginal ultrasound, which were subjected to unilateral occlusion with Essure® and subsequent treatment with in vitro fertilization. MATERIAL AND METHODS: We performed a prospective analysis of a sample of 6 women, with a history of infertility and unilateral hydrosalpinx, between April 2010 to May 2013. In all cases we proceeded to unilateral hysteroscopic placement of the Essure® microinsert, prior to performing a cycle for in vitro fertilization. RESULTS: Of the 6 patients undergoing in vitro fertilization, 4 became pregnant (66.7%). Of these, two were uneventful pregnancies until delivery and 2 are still under surveillance, without complications. Of the patients who did not become pregnant after in vitro fertilization (n = 2, 33.3%), 1 conceived spontaneously during the subsequent monitoring. DISCUSSION: The advancement of hysteroscopy in the treatment of hydrosalpinx using the Essure® microinsert placement is a valid alternative to the laparoscopic approach. CONCLUSION: This study suggests the effectiveness of unilateral tubal occlusion caused by Essure® microinsert in improving outcomes of in vitro fertilization treatment in cases of infertility associated with unilateral hydrosalpinx, visible in the vaginal ultrasound.

Introdução: Desde há duas décadas que assistimos à publicação de vários estudos dedicados à avaliação da influência da hidrossalpinge nos resultados de técnicas de transferência de embriões. O objectivo deste trabalho é apresentar os resultados do tratamento e vigilância gestacional em mulheres com história de infertilidade - associada a hidrossalpinge unilateral, visível no exame ecográfico transvaginal - submetidas a oclusão unilateral com Essure® e tratamento subsequente com fertilização in vitro. Material e Métodos: Análise prospectiva de uma amostra constituída por seis mulheres, com antecedentes de infertilidade e hidrossalpinge unilateral, entre Abril de 2010 e Maio de 2013. Em todos os casos procedemos a exclusão de hidrossalpinge recorrendo à colocação unilateral de um dispositivo Essure® por via histeroscópica antes da realização de um ciclo para fertilização in vitro. Resultados: Das seis doentes submetidas a fertilização in vitro, quatro engravidaram (66,7%). Destas, registaram-se duas gravidezes de termo sem intercorrências até ao parto e duas gravidezes encontram-se em vigilância, sem intercorrências conhecidas até à data. Das doentes que não engravidaram após fertilização in vitro (n = 2, 33,3%), uma engravidou espontaneamente durante a vigilância subsequente. Discussão: O avanço da histeroscopia no tratamento de hidrossalpinge, recorrendo à implantação do dispositivo Essure®, representa uma alternativa válida à abordagem laparoscópica. Conclusão: Este estudo sugere que a oclusão tubar unilateral, induzida pelo dispositivo Essure®, melhora os resultados do tratamento com fertilização in vitro em casos de infertilidade associada a hidrossalpinge unilateral, visível no exame ecográfico transvaginal.

Buschke-Lowenstein Tumor.

INTRODUCTION: Giant condyloma acuminatum belongs to a spectrum of diseases with malignant degeneration. Clinically, it presents as exophytic, fungating masses, sometimes with a cauliflower-like morphology. CASE PRESENTATION: We present a case of a 32-year-old female patient with a 180x95x80mm exophytic mass of the vulvar region suggestive of Buschke-Lowenstein Tumour. Treatment included wide local excision with electrosurgery and CO2 vaporization of recurrent focal lesions. Histopathological analysis confirmed the expected diagnosis. Surgery went without complications and the patient is lesion-free at the 12th month of follow-up. CONCLUSION: There is a lack of consistent trials regarding optimal treatment of BLT. Surgery, when feasible, remains the mainstay of treatment. It allows quick lesion size reduction, with fewer side effects and more rapid return to daily living activities, when compared to other treatment options.