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História clínica e evolução da Hérnia Diafragmática Congénita: Análise e impacto das intervenções pré-natais existentes
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Abstract(s)
A Hérnia Diafragmática Congénita é uma malformação fetal grave caracterizada por
um defeito diafragmático que origina a herniação de órgãos abdominais para o tórax. O
foco atual do tratamento inclui estratégias pós-natais, como suporte ventilatório
otimizado, estabilização hemodinâmica e reparação cirúrgica, e abordagens pré-natais,
como a oclusão traqueal fetoscópica, para promover o desenvolvimento pulmonar. Esta
condição associa-se a elevada mortalidade e morbilidade neonatal, cujo mau
prognóstico é derivado da hipoplasia e hipertensão pulmonar, disfunção respiratória e
presença de anomalias comummente associadas. Embora avanços terapêuticos tenham
melhorado a sobrevivência, complicações como displasia broncopulmonar, hipertensão
pulmonar crónica e atrasos no desenvolvimento neurocognitivo podem afetar o bemestar dos sobreviventes, exigindo acompanhamento multidisciplinar e contínuo.
Para a elaboração desta monografia recorreu-se à base de dados PubMed, na qual se
utilizaram termos MeSH específicos. Restringiu-se a pesquisa a artigos, revisões,
estudos, ensaios clínicos e análises económicas dos últimos 5 anos (2019–2024), em
língua portuguesa e inglesa.
Estudos demonstram que alterações estruturais e funcionais nos pulmões e circulação
fetal podem tornar os danos pulmonares irreversíveis após o nascimento, sublinhando
a importância e motivando a investigação de intervenções antes do parto. Apesar de
controversa, a técnica de oclusão traqueal tem demonstrado melhorias na
sobrevivência neonatal, particularmente em casos graves de hérnia isolada do lado
esquerdo e quando realizada em centros experientes. A administração de betametasona
materna e surfactante pós-extração do balão são intervenções complementares que
podem melhorar os resultados. Avanços emergentes, incluindo o uso de células
estaminais mesenquimais, vesículas extracelulares e terapias baseadas em microRNAs,
apresentam potencial para restaurar a arquitetura pulmonar e minimizar a fibrose,
embora exijam validação adicional. A hipertensão pulmonar associada à HDC
permanece um desafio terapêutico significativo, reforçando o estudo de intervenções
direcionadas precoces como o uso intra-amniótico de sildenafil e vasodilatadores
combinados, que podem representar um marco no tratamento. Apesar dos desafios
éticos e logísticos, que limitam a padronização e avanço das terapêuticas, as abordagens
pré-natais têm demonstrado impacto relevante nos desfechos neonatais. Conclui-se, então, que a gestão da Hérnia Diafragmática Congénita deve ser realizada
em centros especializados com equipas multidisciplinares, integrando intervenções
fetais e estratégias neonatais otimizadas para minimizar complicações e melhorar a
qualidade de vida a longo prazo.
Congenital Diaphragmatic Hernia is a severe fetal malformation characterized by a diaphragmatic defect that causes the herniation of abdominal organs into the thorax. The current focus of treatment includes postnatal strategies, such as optimized ventilatory support, hemodynamic stabilization and surgical repair, and prenatal approaches, such as fetoscopic tracheal occlusion, to promote lung development. This condition is associated with high neonatal mortality and morbidity, whose poor prognosis is derived from commonly associated pulmonary hypoplasia, pulmonary hypertension, respiratory dysfunction and the presence of anomalies. Although therapeutic advances have improved survival, complications such as bronchopulmonary dysplasia, chronic pulmonary hypertension and delays in neurocognitive development can affect the well-being of survivors, requiring multidisciplinary and continuous monitoring. For the elaboration of this monograph, the PubMed database was used, in which specific MeSH terms were applied. The search was restricted to articles, reviews, studies, clinical trials and economic analyses from the last five years (2019-2024), in Portuguese and English. Studies show that structural and functional alterations in the lungs and fetal circulation can make lung damage irreversible after birth, underlining the importance and motivating the investigation of interventions before birth. Despite controversial, the tracheal occlusion technique has shown improvements in neonatal survival, particularly in severe cases of isolated left-sided hernia and when performed in experienced centers. The administration of maternal betamethasone and surfactant after balloon extraction are complementary interventions that can improve outcomes. Emerging advances, including the use of mesenchymal stem cells, extracellular vesicles and microRNA-based therapies, show potential to restore lung architecture and minimize fibrosis, although they require further validation. Pulmonary hypertension associated with CDH remains a significant therapeutic challenge, reinforcing the study of early targeted interventions such as the intra-amniotic use of sildenafil and combined vasodilators, which could represent a milestone in treatment. Despite the ethical and logistical challenges, which limit the standardization and advancement of therapies, prenatal approaches have shown a relevant impact on neonatal outcomes. It is, therefore, concluded, that the management of the Congenital Diaphragmatic Hernia should be carried out in specialized centers with multidisciplinary teams, integrating fetal interventions and optimized neonatal strategies to minimize complications and improve long-term quality of life.
Congenital Diaphragmatic Hernia is a severe fetal malformation characterized by a diaphragmatic defect that causes the herniation of abdominal organs into the thorax. The current focus of treatment includes postnatal strategies, such as optimized ventilatory support, hemodynamic stabilization and surgical repair, and prenatal approaches, such as fetoscopic tracheal occlusion, to promote lung development. This condition is associated with high neonatal mortality and morbidity, whose poor prognosis is derived from commonly associated pulmonary hypoplasia, pulmonary hypertension, respiratory dysfunction and the presence of anomalies. Although therapeutic advances have improved survival, complications such as bronchopulmonary dysplasia, chronic pulmonary hypertension and delays in neurocognitive development can affect the well-being of survivors, requiring multidisciplinary and continuous monitoring. For the elaboration of this monograph, the PubMed database was used, in which specific MeSH terms were applied. The search was restricted to articles, reviews, studies, clinical trials and economic analyses from the last five years (2019-2024), in Portuguese and English. Studies show that structural and functional alterations in the lungs and fetal circulation can make lung damage irreversible after birth, underlining the importance and motivating the investigation of interventions before birth. Despite controversial, the tracheal occlusion technique has shown improvements in neonatal survival, particularly in severe cases of isolated left-sided hernia and when performed in experienced centers. The administration of maternal betamethasone and surfactant after balloon extraction are complementary interventions that can improve outcomes. Emerging advances, including the use of mesenchymal stem cells, extracellular vesicles and microRNA-based therapies, show potential to restore lung architecture and minimize fibrosis, although they require further validation. Pulmonary hypertension associated with CDH remains a significant therapeutic challenge, reinforcing the study of early targeted interventions such as the intra-amniotic use of sildenafil and combined vasodilators, which could represent a milestone in treatment. Despite the ethical and logistical challenges, which limit the standardization and advancement of therapies, prenatal approaches have shown a relevant impact on neonatal outcomes. It is, therefore, concluded, that the management of the Congenital Diaphragmatic Hernia should be carried out in specialized centers with multidisciplinary teams, integrating fetal interventions and optimized neonatal strategies to minimize complications and improve long-term quality of life.
Description
Keywords
Desfechos Hérnia Diafragmática Congénita Impacto Intervenção Pré-Natal