Cardiopatías congénitas, diagnóstico y manejo prenatal / Congenital heart disease, prenatal diagnosis and management

Dentro de las malformaciones congénitas, las cardiopatías son las anomalías más frecuentes y se asocian a una elevada morbimortalidad perinatal y a largo plazo. El objetivo de esta actualización es revisar la tasa de detección prenatal, las características del tamizaje a lo largo del embarazo, tanto en el primero como en el segundo trimestre, las indicaciones de ecocardiografía avanzada, y establecer un algoritmo de manejo ante el diagnóstico prenatal de una cardiopatía congénita. Se discutirán los estudios invasivos y no invasivos que pueden realizarse y el seguimiento obstétrico. Finalmente, se revisarán las características principales de la terapia fetal en anomalías cardíacas, tanto intervencionismo cardíaco como el tratamiento intrauterino de las arritmias.

Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, long-term morbidity and mortality. The objective of this update was to review the rate of prenatal detection, screening characteristics throughout the pregnancy, in both the first and second trimesters, indications for advanced echocardiography, and to establish a management algorithm in case of prenatal diagnosis of a congenital heart disease. Potential invasive and non-invasive tests and obstetric follow-up will be discussed here. Finally, the main characteristics of fetal therapy in heart anomalies will be reviewed, both cardiac interventions and intrauterine treatment of arrhythmias.

Secuestro pulmonar asociado a una malformación congénita de la vía aérea pulmonar / Pulmonary sequestration associated with congenital pulmonary airway malformation

Resumen Introducción: Las malformaciones pulmonares congénitas son una causa poco frecuente de morbilidad neonatal. Algunas de ellas tienen un origen común, lo que permite identificar lesiones combinadas. Su diagnóstico puede realizarse de forma prenatal mediante ultrasonido, con las limitaciones de que solo se realiza en centros especializados y que depende de la pericia del operador. La asociación entre el secuestro pulmonar y la malformación congénita de la vía aérea se ha descrito aproximadamente en 40-60 casos desde 1949, cuando se observó por primera vez. Muchas lesiones no son perceptibles en la vida intrauterina. Sin embargo, en el periodo neonatal se presentan síntomas respiratorios recurrentes que en algunos casos están asociados con una malformación pulmonar. Caso clínico: Se presenta el caso de una lactante diagnosticada con secuestro pulmonar a las 24 semanas de edad gestacional. Recibió tratamiento quirúrgico intrauterino con reporte de resolución completa de la malformación en ultrasonidos posteriores. Fue valorada por neumología pediátrica a los 4 meses de edad. Se realizó una angiotomografía y se confirmó la presencia de secuestro pulmonar, por lo que se realizó una lobectomía. El estudio histopatológico reportó secuestro pulmonar extralobar con malformación congénita de la vía aérea pulmonar tipo 2. Estas lesiones combinadas se identificaron mediante un estudio histopatológico. El tratamiento de elección fue quirúrgico. Conclusiones: Ante la confirmación de una malformación, destaca la importancia de realizar la búsqueda de otras malformaciones que pudieran estar asociadas.

Abstract Introduction: Congenital pulmonary malformations are a rare cause of neonatal morbidity. Some of them have a common origin, which allows the identification of combined lesions. Its diagnosis can be made prenatally by ultrasound, with the limitation that this study is performed in specialized centers and depends on the expertise of the operator. The association of pulmonary sequestration and congenital malformation of the airway has been described in approximately 40-60 cases since its first description in 1949. Many lesions are not perceptible in intrauterine life and in the neonatal period there are recurrent respiratory symptoms that in some cases are associated with a congenital pulmonary malformation. Case report: We report the case of a young infant, who was diagnosed with pulmonary sequestration at 24 weeks of gestational age, undergoing intrauterine surgical treatment with a report of complete resolution of the malformation in posterior ultrasounds. She was valued by pediatric pneumology at 4 months of age, where angiotomography was performed and the presence of pulmonary sequestration was confirmed by lobectomy. The histopathological study reported extralobar pulmonary sequestration with congenital malformation of the pulmonary airway type 2. These combined lesions were identified by histopathological study. The treatment of choice was surgical. Conclusions: Upon the confirmation of a malformation, we emphasize the importance of performing a screening in order to search for other that could be associated.

Novel multidisciplinary approach to monitor and treat fetuses with gastroschisis using the Svetliza Reducibility Index and the EXIT-like procedure / Nova abordagem multidisciplinar para monitorizar e tratar fetos com gastrosquise utilizando o Svetliza Reducibility Index e o procedimento EXIT-like

ABSTRACT Objective: To describe our initial experience with a novel approach to follow-up and treat gastroschisis in "zero minute" using the EXITlike procedure. Methods: Eleven fetuses with prenatal diagnosis of gastroschisis were evaluated. The Svetliza Reductibility Index was used to prospectively evaluate five cases, and six cases were used as historical controls. The Svetliza Reductibility Index consisted in dividing the real abdominal wall defect diameter by the larger intestinal loop to be fitted in such space. The EXIT-like procedure consists in planned cesarean section, fetal analgesia and return of the herniated viscera to the abdominal cavity before the baby can fill the intestines with air. No general anesthesia or uterine relaxation is needed. Exteriorized viscera reduction is performed while umbilical cord circulation is maintained. Results: Four of the five cases were performed with the EXIT-like procedure. Successful complete closure was achieved in three infants. The other cases were planned deliveries at term and treated by construction of a Silo. The average time to return the viscera in EXIT-like Group was 5.0 minutes, and, in all cases, oximetry was maintained within normal ranges. In the perinatal period, there were significant statistical differences in ventilation days required (p = 0.0169), duration of parenteral nutrition (p=0.0104) and duration of enteral feed (p=0.0294). Conclusion: The Svetliza Reductibility Index and EXIT-like procedure could be new options to follow and treat gastroschisis, with significantly improved neonatal outcome in our unit. Further randomized studies are needed to evaluate this novel approach.

RESUMO Objetivo: Descrever a experiência inicial com a nova técnica cirúrgica EXIT-like para acompanhamento e correção de gastrosquise no "minuto zero". Métodos: Foram avaliados onze fetos com diagnóstico pré-natal de gastrosquise. O Svetliza Reducibility Index foi usado prospectivamente para avaliar cinco casos, e seis foram utilizados como controles. O índice foi calculado dividindo-se o diâmetro do defeito da parede abdominal pela maior alça intestinal que coubesse neste espaço. O procedimento EXIT-like compreendeu cesárea programada, analgesia fetal e redução da víscera herniada para a cavidade abdominal, antes da deglutição de ar pelo recém- nascido. Não são necessários anestesia geral e nem relaxamento uterino. A redução da víscera exteriorizada é realizada enquanto se mantém a circulação do cordão umbilical. Resultados: Quatro casos, dos cinco, foram submetidos ao EXIT-like. A correção foi completa em três casos. Os demais casos foram partos a termo planejados, e a correção do defeito foi feita com Silo. O tempo médio de redução da víscera foi de 5,0 minutos no grupo submetido ao procedimento EXITlike, e a oximetria foi mantida dentro dos valores de variação normal em todos os casos. No período perinatal, foram observadas diferenças estatisticamente significativas no tempo de ventilação mecânica (p=0,0169), duração da nutrição parenteral (p = 0,0104) e da nutrição enteral (p=0,0294). Conclusão: O Svetliza Reducibility Index e o procedimento EXIT-like podem ser novas opções para acompanhar e tratar gastroquise, com desfecho neonatal significativamente melhor em nossa unidade. Novos estudos randomizados são necessários para avaliar esta nova abordagem.

Teratoma sacrococcígeo: diagnóstico, evaluación y terapia prenatal / Sacrococcygeal teratoma: diagnosis, evaluation and prenatal therapy

El teratoma sacrococcígeo representa la lesión tumoral más frecuente durante la gestación. Si bien su frecuencia es baja, en asociación con hidrops puede determinar la aparición de insuficiencia cardiaca fetal y posterior muerte fetal in útero. La evaluación prenatal mediante ultrasonografía, debe orientarse hacia la selección de aquellos fetos candidatos a intervención prenatal para mejorar el resultado perinatal de fetos con compromiso hemodinámico que se encuentran bajo la viabilidad. El objetivo de la presente actualización es exponer las herramientas actualmente en uso para realizar dicha evaluación y los resultados de la cirugía prenatal. La puntuación del perfil cardiovascular fetal mediante la ecografía, se propone como una herramienta sensible y útil en la selección de fetos candidatos a intervención prenatal. Tanto la cirugía abierta como el abordaje mínimamente invasivo se exponen como alternativas en el manejo prenatal de fetos candidatos a intervención con sobrevida reportada en torno al 50 y 44 por ciento respectivamente.

The sacrococcygeal teratoma is the most common tumor during prenatal period. Although its frequency is low, together with hydrops could determine the occurrence of fetal heart failure, and subsequent fetal death in utero. Prenatal ultrasonographic evaluation, should be directed toward selection of those fetuses as candidates for prenatal therapy, to improve their perinatal outcome, when they present hemodynamic compromise while they are under fetal viability. The purpose of this update is to expose the tools currently used to conduct the assessment and the results of prenatal surgery. The fetal cardiovascular profile score by ultrasound is proposed as a sensible and useful tool in the selection of candidates for prenatal intervention. Both open surgery as minimally invasive approach are presented as alternatives in the prenatal management of fetus as candidates to intervention, has been reported a survival about 50 and 44 percent respectively.

Fetal cardiac interventions: an update of therapeutic options / Intervenções cardíacas fetais: atualização de opções terapêuticas

Objective: This article aims to present updated therapeutic options for fetal congenital heart diseases. Methods: Data source for the present study was based on comprehensive literature retrieval on fetal cardiac interventions in terms of indications, technical approaches and clinical outcomes. Results: About 5% of fetal congenital heart diseases are critical and timely intrauterine intervention may alleviate heart function. Candidates for fetal cardiac interventions are limited. These candidates may include critical aortic valve stenosis with evolving hypoplastic left heart syndrome, pulmonary atresia with an intact ventricular septum and evolving hypoplastic right heart syndrome, and hypoplastic left heart syndrome with an intact or highly restrictive atrial septum as well as fetal heart block. The advocated option are prenatal aortic valvuloplasty, pulmonary valvuloplasty, creation of atrial communication and fetal cardiac pacing. Conclusion: Fetal cardiac interventions are feasible at midgestation with gradually improved technical success and fetal/postnatal survival due mainly to a well-trained multidisciplinary team, sophisticated equipment and better postnatal care. .

Objetivo: Este artigo tem como objetivo apresentar opções terapêuticas atualizadas para cardiopatias congênitas fetais. Métodos: Os dados do presente estudo foram baseados em uma revisão abrangente da literatura a respeito de intervenções cardíacas fetais em termos de indicações, abordagens técnicas e resultados clínicos. Resultados: Cerca de 5% das cardiopatias congênitas fetais são críticas e a intervenção intrauterina oportuna pode aliviar a função cardíaca. Os candidatos para intervenções cardíacas fetais são limitados e podem incluir aqueles que são portadores de estenose valvar aórtica crítica com evolução para síndrome de hipoplasia do coração esquerdo, atresia pulmonar com septo ventricular íntegro e com evolução da síndrome de hipoplasia do coração direito e síndrome de hipoplasia do coração esquerdo com septo atrial intacto ou altamente restritivo, bem como bloqueio cardíaco fetal. As opções preconizadas são a valvoplastia aórtica fetal, valvoplastia pulmonar, criação de comunicação interatrial e implante de marca-passos em fetos. Conclusão: Intervenções cardíacas fetais são viáveis na fase intermediária da gestação com sucesso técnico e sobrevivência fetal/pós-natal, sendo aprimorados gradualmente, devido, sobretudo, a uma equipe multidisciplinar bem treinada, equipamentos sofisticados e melhores cuidados no pós-natal. .

Standardization of pulmonary ventilation technique using volume-controlled ventilators in rats with congenital diaphragmatic hernia / Padronização da técnica de ventilação pulmonar utilizando ventiladores com volume controlado em ratos com hérnia diafragmática congênita

OBJECTIVE: To standardize a technique for ventilating rat fetuses with Congenital Diaphragmatic Hernia (CDH) using a volume-controlled ventilator. METHODS: Pregnant rats were divided into the following groups: a) control (C); b) exposed to nitrofen with CDH (CDH); and c) exposed to nitrofen without CDH (N-). Fetuses of the three groups were randomly divided into the subgroups ventilated (V) and non-ventilated (N-V). Fetuses were collected on day 21.5 of gestation, weighed and ventilated for 30 minutes using a volume-controlled ventilator. Then the lungs were collected for histological study. We evaluated: body weight (BW), total lung weight (TLW), left lung weight (LLW), ratios TLW / BW and LLW / BW, morphological histology of the airways and causes of failures of ventilation. RESULTS: BW, TLW, LLW, TLW / BW and LLW / BW were higher in C compared with N- (p <0.05) and CDH (p <0.05), but no differences were found between the subgroups V and N-V (p> 0.05). The morphology of the pulmonary airways showed hypoplasia in groups N- and CDH, with no difference between V and N-V (p <0.05). The C and N- groups could be successfully ventilated using a tidal volume of 75 ìl, but the failure of ventilation in the CDH group decreased only when ventilated with 50 ìl. CONCLUSION: Volume ventilation is possible in rats with CDH for a short period and does not alter fetal or lung morphology. .

OBJETIVO: padronizar uma técnica para ventilar fetos de rato com HDC usando um ventilador volume-controlado. MÉTODOS: ratas grávidas foram distribuídas em: a) Controle (C); e b) Expostos a Nitrofen com HDC e sem HDC (N-). Fetos dos três grupos foram divididos aleatoriamente em subgrupos ventilados (V) ou não ventilados (NV). Os fetos foram coletados no dia 21,5 da gestação, pesados e ventilados por 30 minutos usando um ventilador volume-controlado. A seguir os pulmões foram coletados para estudo histológico. Nós avaliamos: peso corporal (PC), peso pulmonar total (PPT), peso do pulmão esquerdo (PPE), razão PPT/PC e PPE/PC, histologia morfológica das vias aéreas e as causas das falhas da ventilação. RESULTADOS: PC, PPT, PPE, LLW, PPT/PC e PPE/PC foram maiores em C em relação a N- (p<0,05) e a HDC (p<0,05), mas não houve diferenças entre os subgrupos V e NV (p>0,05). A morfologia das vias aéreas pulmonares mostrou hipoplasia nos grupos N- e HDC, não havendo diferença entre V e NV (p<0,05). Os grupos C e N- puderam ser ventilados com sucesso usando o volume corrente de 75ìl, mas a falha de ventilação no grupo HDC só diminuiu quando ventilados com 50ìl. . CONCLUSÃO: a ventilação a volume de ratos com HDC por um curto período é possível e não altera a morfologia fetal ou pulmonar. .

Avances en terapia fetal / [Advances in fetal therapy].

Fetal therapy may be needed in certain clinical settings with the primary indication to improve perinatal or long-term outcomes for the fetus or the newborn. It can be classified in pharmacotherapy or non-invasive, and invasive therapy. The first one involves the administration of drugs to the mother that cross the placenta and get to the fetus, a non-invasive approach. On the other hand, invasive therapy involves the use of needles, fetoscopic treatments or open fetal surgery. This review provides an update of non-invasive and invasive fetal therapy.

To shunt or not to shunt a pulmonary adenomatoid cystic malformation after 33 weeks of gestation: a case report / Derivar ou não uma malformação adenomatóide cística do pulmão após 33 semanas de gestação: relato de caso

CONTEXT: Macrocystic adenomatoid malformation of the lung can cause severe mediastinal shift, hydrops and polyhydramnios, thereby increasing the risk of perinatal deaths. After 33 weeks of gestation, repeated puncturing of the cyst is recommended. We present a case in which a cyst-amniotic shunt was placed instead of performing this procedure. CASE REPORT: A cyst-amniotic shunt was placed at 33 weeks of gestation because of a large macrocystic adenomatoid malformation of the lung associated with severe mediastinal shift and polyhydramnios. Although it was confirmed that the catheter was in the correct place, the cyst increased in size again two weeks later, associated with repetition of polyhydramnios. It was postulated that the catheter was blocked, and we chose to place another catheter instead of performing repeated punctures. The cystic volume, polyhydramnios and mediastinal shift regressed progressively. At 38.5 weeks, a 3,310/g male infant was delivered without presenting any respiratory distress. The infant underwent thoracotomy on the 15th day of life. Thus, in the present study, we discuss the possibility of placing a cyst-amniotic shunt instead of performing repeated cystic punctures, even at a gestational age close to full term.

CONTEXTO: A malformação adenomatóide do pulmão tipo macrocística pode causar compressão mediastinal grave, hidropisia e polihidrâmnio aumentando a chance de óbito perinatal. Após a 33ª semana de gestação, recomenda-se realizar punções repetidas do cisto. Apresentamos um caso em que um dreno cístico-amniótico foi colocado e as punções foram evitadas. RELATO DE CASO: Um dreno cístico-amniótico foi colocado na 33ª semana de gestação devido a grande malfomação adenomatóide cística do pulmão associada a desvio de mediastino grave e polihidrâmnio. Apesar de o cateter ter sido identificado no local correto, o cisto voltou a crescer duas semanas após, repetindo o polihidrâmnio. Postulou-se que o cateter estava obstruído e optamos por colocar um novo cateter ao invés de realizar punções repetidas desse cisto. Foi observada regressão progressiva do volume do cisto, do polihidrâmnio e do desvio de mediastino. Na 38ª semana e meia, um menino de 3.310 g nasceu sem apresentar dificuldade respiratória, sendo submetido a toracotomia no 15º dia de vida. Portanto, no presente estudo, discute-se sobre a possibilidade de colocação do dreno cístico-amniótico no lugar de realizar punções repetidas do cisto mesmo em idades gestacionais próximas do termo.

Corticosteróides na aceleração da maturidade fetal: evidências atuais / Corticosteroids in fetal maturity acceleration: update evidences

A síndrome da dificuldade respiratória neonatal é grave complicação da prematuridade. Em 1969, Liggins constatou que a maturação do pulmão fetal estava acelerada nos fetos de cordeiros infundidos com corticosteróides. Liggins, em 1972, realizou estudo controlado e randomizado que comprovou a eficácia da terapia antenatal com corticosteróide em reduzir a incidência da síndrome de dificuldade respiratória neonatal (SDR), em seres humanos. Liggins e outros autores demonstraram que esta redução estava presente nos recém-nascidos entre 48 horas e sete dias após o tratamento, o que poderia, conseqüentemente, traduzir benefício em repetir-se a dose do corticosteróide antenatal nas mulheres que permanecem em risco de parto pré-termo por mais de sete dias após o ciclo inicial. Desde a década de 80, os estudos em animais e em seres humanos levantam polêmicas sobre o uso de doses repetidas, em função dos potenciais efeitos adversos para a prole. Hoje, a avaliação da evidência na eficácia da terapia antenatal com corticosteróide permite concluir que todas as gestantes em risco de parto pré-termo, entre 24 e 34 semanas, são candidatas potenciais a receberem um único ciclo de corticosteróide. Não há prova suficiente para avaliar o uso de doses repetidas de corticosteróide nas mulheres que permanecem em risco de parto pré-termo por mais de sete dias após a primeira dose.

The neonatal respiratory distress syndrome is a serious complication of prematurity. In 1969, Liggins showed that fetal lung maturation was sped up in the embryos of lambs infused with corticosteroids. In 1972, Liggins carried out a controlled and radomized study that proved the effectiveness of the antenatal therapy with corticosteroid in reducing the incidence of the neonatal respiratory distress syndrome (NRDS), in human beings. Liggins and other authors had demonstrated that this reduction was present in newborns within 48 hours and seven days after the treatment which could, consequently, be translated into repeating the dose of corticosteroid antenatal in those women who remained at risk of preterm delivery for more than seven days after the initial cycle. Since the 1980's, the studies in animals and human beings have raised controversies on the use of repeated doses due to the potential adverse effect for the offspring. Today, the assessment of the evidence in the effectiveness of the antenatal therapy with corticosteroid has showed that all pregnant women at risk for preterm delivery , between 24 and 34 weeks, are potential cadidates to receive a single cycle of corticosteroid. There is not enough evidence to evaluate the use of repeated doses of corticosteroid in women who remain at risk for preterm delivery for more than seven days after the first dose.

Estenosis aórtica crítica: presentación de un caso clínico y revisión de la literatura / Severe aortic valve stenosis: a case report and literature review

We report case of prenatal diagnosis of critical aortic valve stenosis. In a 21 year old mother, it was suspected a complex congenital heart disease at 39 weeks gestation. She was derivated to Santiago and prenatal evaluation revealed critical aortic valve stenosis with left ventricular fibroelastosis and a restrictive foramen ovale. Elective caesarean section was performed at 39 1/2 weeks of gestation. The newborn, male, 2.890 grams of weight, was managed with prostaglandinsand dopamine. The second day of life he was transferred to the Cardiovascular Intensive Care Unit of Doctor Luis Calvo Mackenna Hospital for resolution. After his postnatal evaluation, it was concluded that it was capable of biventricular repair, as balloon valvuloplasty, the therapy of choice. After the suspension of prostaglandins, he developed clinical deterioration with systodiastolic dysfunction of the left ventricle and pulmonary hypertension. It was decided to perform Norwood-Sano 10 days after angioplasty. The patient evolved favourably, being transferred to his hospital of origin at 43 days of life. In this article we will make a full review of the epidemiology, diagnosis and management of pre and postnatal critical aortic valve stenosis.

Se presenta un caso clínico de diagnóstico prenatal de estenosis aórtica crítica. A las 39 semanas de gestación se sospecha cardiopatía congénita compleja en una paciente de 21 años, siendo derivada a Santiago. La evaluación prenatal revela de estenosis aórtica crítica con fibroelastosis del ventrículo izquierdo y foramen oval restrictivo. Se realiza cesárea electiva a las 39 1/2 semanas de edad gestacional. Nace un recién nacido de 2.890 g, sexo masculino. Se inicia tratamiento con prostaglandinas y dopamina. Al segundo día de vida se traslada a Unidad de Cuidados Intensivos Cardiovascular del Hospital Doctor Luis Calvo Mackenna para su resolución. Posterior a su evaluación postnatal, se concluye que es susceptible de reparo biventricular, siendo la valvuloplastía con balón, la terapia de elección. Posterior a la suspensión de la prostaglandina, se produce deterioro clínico asociado a disfunción sistodiastólica del ventrículo izquierdo e hipertensión pulmonar. Se decide realizar cirugía de Norwood-Sano a los 10 días postangioplastía. Evoluciona en forma favorable, siendo trasladado a su hospital de origen a los 43 días de vida. En el presente artículo se hará una revisión completa de la epidemiología, diagnóstico y manejo pre y postnatal de la estenosis aórtica crítica.

Current status of fetal surgery.

The allure of fetal surgery is the possibility of interrupting in utero progression of an otherwise treatable condition. In spite of advances in prenatal diagnosis and refinements in surgical techniques, this field has not yet got off the ground because the risks to the mother and fetus, during and after the procedure far outweigh the benefits, and the infrastructure required to support such activity is prohibitively expensive. The various surgical conditions in which fetal surgery has been attempted and the present status of this specialty are discussed.