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Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic
Carmen Mesas Burgos1,2, Vikas S Gupta3, Peter Conner2,4
1Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.
Insights
Congenital Diaphragmatic Hernia (CDH) associated with syndromes is rare, affecting 8.2% of cases. Syndromic CDH significantly lowers survival rates compared to non-syndromic cases, highlighting the importance of early genetic diagnosis.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Neonatology
Background:
- Congenital Diaphragmatic Hernia (CDH) is a complex birth defect.
- Understanding the incidence and outcomes of syndromic CDH is crucial for patient management.
Purpose of the Study:
- To determine the incidence of Congenital Diaphragmatic Hernia (CDH) associated with known or suspected syndromes.
- To analyze and compare postnatal outcomes for syndromic versus non-syndromic CDH cases.
Main Methods:
- Analysis of data from the multinational Congenital Diaphragmatic Hernia Study Group Registry (1996-2020).
- Categorization of patients into syndromic and non-syndromic groups for outcome comparison.
- Evaluation of survival rates, birth characteristics, and treatment interventions.
Main Results:
- Syndromic CDH accounted for 3.4% of cases, rising to 8.2% when including suspected genetic conditions.
- Overall survival for syndromic CDH was 34% compared to 76.7% for non-syndromic CDH.
- Common syndromes included Fryns, Trisomy 18, Trisomy 21, and Trisomy 13, with varying survival rates.
Conclusions:
- Syndromic CDH presents with significantly lower survival rates and poorer outcomes, including lower birth weight and gestational age.
- Higher rates of non-repair and decreased extracorporeal life support use in syndromic CDH impact outcomes.
- Early genetic diagnosis is vital for informed decision-making and potentially improving outcomes in syndromic CDH.
Background:
The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.
Methods:
Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.
Results:
A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non-syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister-Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis. The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non-repair (53%). The length of hospital stay was longer, and larger number of patients needed O2 at 30 days. Extracorporeal life support was used only in 15% of the cases. Those who underwent surgical repair had survival to discharge rates of 73%.
Conclusion:
Syndromic CDH is rare and only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non-repair and decreased extracorporeal life support use, along with a high early mortality, decision-making regarding goals of care clearly influences outcomes. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision-making.
