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Patterns of malformation in children with congenital diaphragmatic defects
Insights
Congenital diaphragmatic defect in infants often involves other malformations, particularly cardiac anomalies, increasing mortality. Comprehensive evaluation for associated abnormalities is crucial for diagnosis and management.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Developmental Biology
Background:
- Congenital diaphragmatic defect (CDH) is a serious birth defect.
- Associated nonpulmonary malformations are common in CDH patients.
- Understanding these patterns is key to improving outcomes.
Purpose of the Study:
- To determine the frequency and types of chromosomal, genetic, and nongenetic malformations in live-born infants with CDH.
- To investigate the impact of these malformations on mortality.
- To guide diagnostic and management strategies.
Main Methods:
- Retrospective review of medical records for 102 live-born infants with CDH.
- Analysis of associated major nonpulmonary malformations.
- Comparison of mortality rates between infants with and without cardiac anomalies.
Main Results:
- 39% of infants had major nonpulmonary malformations.
- 14% had previously recognized malformation patterns.
- Cardiac anomalies were present in 18% and associated with significantly higher mortality (72% vs. 38%).
Conclusions:
- Nonpulmonary abnormalities are frequent and significant in CDH.
- Cardiac evaluation is essential for all CDH patients.
- Karyotyping and detailed anomaly assessment are recommended for comprehensive diagnosis.
Abstract:
The medical records of 102 live-born children with a congenital diaphragmatic defect were reviewed to determine the frequency and nature of underlying chromosomal, genetic, and nongenetic patterns of malformation. Overall, 40 children (39%) had a major nonpulmonary malformation, and 14 of these children (14%) had a previously recognized pattern of malformation. A group of 18 children (18%) with cardiac anomalies had an increased mortality rate in comparison with those children without cardiac defects (72% vs 38%). The frequency and severity of nonpulmonary abnormalities in children with congenital diaphragmatic defects suggest that examination of affected children should include cardiac evaluation, a karyotype when the defect is one feature of a broader pattern of altered development, and a careful evaluation for minor anomalies, which may provide clues to an overall diagnosis.