Usefulness of three vessel-trachea view and parasagittal plan for prenatal diagnosis of interrupted aortic arch.

BACKGROUND: Interrupted aortic arch (IAA) is a rare congenital heart disease characterized by loss of continuity between the ascending and the descending aorta. Prenatal diagnosis of IAA by echocardiography is challenging but nonetheless can be accomplished via a systematization of cardiac fetal evaluation. CASE PRESENTATION: We report a case of fetal IAA type A prenatally diagnosed through two-dimensional echocardiography using both a three vessel-trachea view and a sagittal view. CONCLUSION: Prenatal counseling regarding the diagnosis and prognosis about this anomaly is still challenging nowadays due to associated anomalies/chromosomal abnormalities who may impact the prognosis. Fetal autopsy in all cases of pregnancy termination after abnormal ultrasound findings is important in order to make a full diagnosis and characterize the anomaly.

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.

First Trimester Tricuspid Regurgitation: Clinical Significance.

Tricuspid regurgitation is a cardiac valvular anomaly that consists of the return of blood to the right atrium during systole due to incomplete valve closure. This structure can be visualized on ultrasound between 11 and 14 weeks of gestation in most cases. Despite being a common finding, even in healthy fetuses, the presence of tricuspid regurgitation may be associated with chromosomal and structural abnormalities. The evaluation of tricuspid flow and the presence of regurgitation on first-trimester ultrasound has shown promising results regarding its role in the early detection of aneuploidies, congenital heart defects, and other adverse perinatal outcomes. This review article aims to demonstrate the importance of tricuspid regurgitation as a secondary marker, and consequently, significant benefits of its early detection when added to the combined first-trimester screening. Its value will be discussed, namely its sensitivity and specificity, alone and together with other current markers in the fetal assessment performed in the first-trimester ultrasound.

Fetal Aortic and Umbilical Doppler Flow Velocity Waveforms in Pregnancy: The Concept of Aortoumbilical Column.

Low impedance within the uteroplacental circulation is crucial for fetal development. Flow velocity waveforms (FVW) have been established for the aortic and umbilical arteries in low-risk pregnancies during the second half of pregnancy, but data regarding early gestation is limited. Both vascular territories exhibit higher impedance patterns in pregnancies complicated by fetal growth restriction (FGR), hypertensive disorders, fetal anemia, and chromosomal abnormalities. Early identification of these complications is critical in obstetric practice, to reduce perinatal morbidity and mortality through prevention and close antenatal surveillance. Available data suggest that aortic and umbilical impedances follow the same variation pattern as pregnancy progresses. This observation implies that both vessels may be considered as a single artery, referred to as the "aortoumbilical column". Our hypothesis posits that changes in the hemodynamic pattern of this column could identify high-risk pregnancies, particularly those complicated by preeclampsia, FGR, intrauterine fetal demise, fetal aneuploidies, and fetal anemia. Understanding vascular embryogenesis and the FVWs of the aortic and umbilical arteries enables comprehension of impedance changes throughout normal pregnancies. The continuous variation in impedance along a single vessel supports our concept of the aortoumbilical column. Deviations from the regular pattern could assist in identifying compromised fetuses during early pregnancy. Further research on normal aortoumbilical column FVW and the development of reference charts is necessary to consider this arterial column as a screening tool in clinical practice.

Pregestational Diabetes and Congenital Heart Defects.

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.

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.

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.

Doppler Ultrasound of the Umbilical Artery: Clinical Application.

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.

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 em gravidezes de alto risco com disfunção 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.

Fetal Cardiac Function: Myocardial Performance Index.

The Myocardial Performance Index (MPI) or Tei index, presented by Tei in 1995, is the ratio of the sum of the duration of the isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) to the duration of the ejection time (ET). The Modified Myocardial Performance Index (Mod-MPI), proposed in 2005, is considered a reliable and useful tool in the study of fetal heart function in several conditions, such as growth restriction, twin-twin transfusion syndrome, maternal diabetes, preeclampsia, intrahepatic cholestasis of pregnancy, and adverse perinatal outcomes. Nevertheless, clinical translation is currently limited by poorly standardised methodology as variations in the technique, machine settings, caliper placement, and specific training required can result in significantly different MPI values. This review aims to provide a survey of the relevant literature on MPI, present a strict methodology and technical considerations, and propose future research.

Uterine Compression Sutures in Controlling Postpartum Haemorrhage: A Narrative Review.

INTRODUCTION: Postpartum haemorrhage is still the main cause of maternal morbidity and mortality. Many treatments are available, but they may threaten fertility potential. As a uterine sparing procedure, we aimed to review uterine compression sutures in order to better understand when they should represent an appropriate option. MATERIAL AND METHODS: A comprehensive search in MEDLINE and PubMed databases including the terms 'postpartum haemorrhage' and 'uterine compression sutures' was performed. Results were revised and articles reviewing or presenting case reports of uterine compression sutures to treat postpartum haemorrhage were included. RESULTS: The first description of uterine compression sutures to control postpartum haemorrhage was published in 1997, by B-Lynch et al. After this publication, many others have reported successful management of postpartum haemorrhage with different suturing techniques. Most of them describe success rates above 75% and the possibility of fertility preservation, with cases of uneventful pregnancy after uterine compression sutures already published. Complications associated with each technique are rare. DISCUSSION: Reports of use of uterine compression sutures include small series of cases or even single case reports which limits the quality of existing evidence to support one technique over another. Nevertheless, uterine compression sutures are recognized as an effective surgical conservative strategy to control postpartum haemorrhage due to uterine atony and its use is recommended, if possible, prior to hysterectomy. CONCLUSION: Uterine compression sutures are effective, safe and simple to perform in an emergent situation and preserve fertility potential in cases of postpartum haemorrhage.

Introdução: A hemorragia pós-parto é a principal causa de morbimortalidade materna. Apesar dos tratamentos disponíveis, o potencial fértil da mulher pode ser colocado em causa. As suturas uterinas de compressão representam uma terapêutica conservadora do útero. Assim, revimos os tipos de suturas uterinas de compressão para compreender quando devem ser uma opção terapêutica. Material e Métodos: Foi realizada pesquisa na MEDLINE e PubMed com os termos 'postpartum haemorrhage' e 'uterine compression sutures' separados e em conjunto. Os resultados foram revistos e os artigos de revisão ou descrevendo casos clínicos de suturas uterinas de compressão foram selecionados. Resultados: Em 1997, B-Lynch et al descreveu pela primeira vez as suturas uterinas de compressão para tratamento da hemorragia pós-parto. Desde aí, publicações de diferentes tipos de suturas uterinas de compressão, com registo de casos bem-sucedidos, têm sido publicadas. A maioria reporta taxas de sucesso acima de 75%, com preservação da fertilidade, existindo vários casos de bom desfecho obstétrico posteriormente descritos. As complicações associadas são raras. Discussão: A evidência acerca do uso de suturas uterinas de compressão é limitada pela qualidade dos artigos existentes que incluem apenas pequenas séries de casos ou descrições de casos isolados. Apesar disso, tem sido reconhecido o seu potencial enquanto estratégia conservadora no controlo da hemorragia pós-parto devido a atonia uterina, sendo recomendado o seu uso, se possível, antes de realizar histerectomia. Conclusão: Em situações de hemorragia pós-parto, as suturas uterinas de compressão são eficazes, seguras e simples de realizar, preservando o potencial reprodutivo.

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.

Clinical Significance of Ductus Venosus Waveform as Generated by Pressure- volume Changes in the Fetal Heart.

The ductus venosus is a vascular shunt situated within the fetal liver parenchyma, connecting the umbilical vein to the inferior vena cava. This vessel acts as a bypass of the liver microcirculation and plays a critical role in the fetal circulation. The ductus venosus allows oxygenated and nutrient-rich venous blood to flow from the placenta to the myocardium and brain. Increased impedance to flow in the fetal ductus venosus is associated with fetal aneuploidies, cardiac defects and other adverse pregnancy outcomes. This review serves to improve our understanding of the mechanisms that regulate the blood flow redistribution between the fetal liver circulation and fetal heart and the clinical significance of the ductus venosus waveform as generated by pressure-volume changes in the fetal heart.

Modified Pereira Suture as an Effective Option to Treat Postpartum Hemorrhage due to Uterine Atony.

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.

Atualmente, a hemorragia pós-parto é a maior causa de morbimortalidade materna 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.