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Prenatal diagnosis and management of some fetal intrathoracic abnormalities
Insights
Prenatal diagnosis of fetal intrathoracic anomalies, including congenital diaphragmatic hernia (CDH), aids timely treatment. However, survival for prenatally diagnosed CDH remains challenging due to lung development limitations.
Area of Science:
- Perinatology
- Pediatric Surgery
- Neonatology
Background:
- Fetal intrathoracic anomalies can cause severe neonatal respiratory distress.
- Congenital diaphragmatic hernia (CDH) is a critical condition requiring specialized care.
- Prenatal detection allows for planned management in specialized centers.
Purpose of the Study:
- To review outcomes of fetuses with intrathoracic anomalies diagnosed prenatally.
- To evaluate the impact of prenatal diagnosis on the management and survival of congenital diaphragmatic hernia (CDH) and other thoracic anomalies.
- To assess the role of prenatal diagnosis in preventing neonatal hypoxia.
Main Methods:
- Retrospective review of nine cases of fetal intrathoracic anomalies.
- Analysis of outcomes for congenital diaphragmatic hernias (CDH), congenital pleural effusion, and isolated lung cysts.
- Comparison of mortality rates between prenatally detected and undiagnosed CDH cases.
Main Results:
- Six cases of congenital diaphragmatic hernia (CDH), one congenital pleural effusion, and two lung cysts were identified.
- Mortality for prenatally diagnosed CDH was paradoxically high (83%) compared to undiagnosed cases (63%).
- Prenatal diagnosis facilitated appropriate treatment for pleural effusion and lung cysts, preventing hypoxia in two cases.
Conclusions:
- Prenatal diagnosis of fetal intrathoracic anomalies enables timely intervention but does not guarantee improved survival for CDH, where lung development is critical.
- While prenatal diagnosis increases the number of CDH cases referred for treatment, many with severe pulmonary hypoplasia remain non-viable.
- For conditions like pleural effusion and lung cysts, prenatal diagnosis is beneficial in guiding management and preventing neonatal complications.
Abstract:
Nine cases of fetal intrathoracic anomalies detected in utero and followed to birth are reviewed. There were 6 congenital diaphragmatic hernias (CDH), one congenital pleural effusion and two isolated cysts of the lung. All these conditions were potentially responsible for neonatal respiratory distress and received early intensive treatment after maternal transport and delivery had been arranged in a center with thoracic surgical facilities available. The risks of a delayed or missed diagnosis were thus avoided, especially for CDH. Despite intensive, traditional, respiratory support, started in the delivery room, mortality among prenatally detected cases of CDH was paradoxically high (83%), compared to mortality among 7 cases of CDH not detected in utero, referred in the same period to our Institution, and symptomatic within 6 h from birth (63%). With prenatal diagnosis the total number of CDH cases referred to a surgical center before birth increases. Many cases which would never have been treated in the past because of death before referral and treatment for severe pulmonary hypoplasia not compatible with life are thus observed and sometimes treated. Nevertheless, lung development continues to be a determining factor for survival even when intensive treatment at birth is available. Responsiveness to therapy is unpredictable before birth and proposed antenatal treatment is still far from being a realistic option. For the other three newborns, where a pleural effusion and pulmonary cysts were found, prenatal diagnosis helped to start appropriate treatment and to prevent neonatal hypoxia in two of them. In the third case, with an incommunicant, isolated pulmonary cyst, the outcome would have been favourable even without a prenatal diagnosis.