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Prenatally versus postnatally diagnosed congenital diaphragmatic hernia - Side, stage, and outcome
Carmen Mesas Burgos1, Björn Frenckner1, Matias Luco2
1Department of Pediatric Surgery, Karolinska Institutet, Stockholm, Sweden.
Insights
Congenital diaphragmatic hernia (CDH) diagnosed prenatally has higher mortality than postnatal diagnoses, linked to larger defect sizes. Right-sided CDH are more frequently missed during prenatal screening, necessitating improved risk stratification.
Area of Science:
- Pediatric Surgery
- Neonatology
- Medical Imaging
Background:
- Congenital diaphragmatic hernia (CDH) is a complex birth defect with significant mortality.
- Prenatal diagnosis of CDH has increased, but outcomes compared to postnatal diagnosis require further evaluation.
- Accurate risk stratification is crucial for managing families with prenatally diagnosed CDH.
Purpose of the Study:
- To compare outcomes between prenatally and postnatally diagnosed CDH.
- To identify factors associated with poorer outcomes in prenatally diagnosed CDH.
- To evaluate the accuracy of prenatal screening for different CDH presentations.
Main Methods:
- Analysis of a large, multicenter, multinational prospective cohort database (CDH Study Group).
- Inclusion of patients born between 2007 and 2015.
- Comparison of survival, defect characteristics (side, size), ECMO needs, and associated malformations between prenatal and postnatal diagnosis groups.
Main Results:
- Overall survival for CDH was 71% (3746 cases); 68% had prenatal diagnosis.
- Postnatally diagnosed CDH had significantly better survival (83%) than prenatally diagnosed (65%).
- Prenatally diagnosed CDH showed a higher proportion of larger defects (C and D) and higher ECMO utilization, though survival was similar within defect sizes. Right-sided CDH were more often missed prenatally (53% vs. 35%).
Conclusions:
- Prenatal diagnosis of CDH is associated with larger defects, leading to increased morbidity and mortality.
- Right-sided CDH are more frequently missed on prenatal ultrasound screening.
- Improved risk stratification and perinatal management are essential for families with prenatally detected CDH.
Aim:
To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH.
Material And Methods:
We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position.
Results:
3746 cases of CDH were entered in the registry between 2007 and 2015, with an overall survival of 71%. Of those, 68% had a prenatal diagnosis. Survival rates were significantly better in the postnatally diagnosed group, 83 vs 65%. There was a higher proportion of bigger defect sizes, C and D, in the prenatally diagnosed group, but the survival rates were similar when patients were stratified by defect size. The rate of ECMO utilization was higher overall in the prenatally diagnosed group, 33 vs 22%, but it was similar within similar defect sizes. Right-sided defects are more commonly missed at prenatal screening than left-sided CDH, 53 vs 35% (p < 0.0001).
Conclusions:
Prenatally diagnosed CDH is associated with larger defect sizes compared to those with a postnatal diagnosis, and consequently have higher morbidity and mortality. Right-sided CDH are more often missed at prenatal ultrasound. The increasing rate of prenatal detection requires a clear understanding of accurate risk stratification, in order to counsel families and to provide appropriate perinatal management.
Level Of Evidence:
I for a Prognosis Study - This is a high-quality, prospective cohort study with 99% of patients followed to the study end point (death or discharge).
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