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Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National
Zhi-Yu Chen1,2, Wen-Li Xu1,2, Yu-Yang Gao1,2
1National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.
Insights
Infants with congenital diaphragmatic hernia (CDH) often have co-occurring birth defects, particularly cardiovascular and musculoskeletal anomalies. This study identified specific patterns of these co-occurrences in a Chinese population.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Cardiology
Background:
- Congenital diaphragmatic hernia (CDH) is a serious birth defect with poorly understood co-occurring conditions.
- Identifying patterns of associated anomalies is crucial for understanding CDH pathogenesis and improving clinical management.
Purpose of the Study:
- To investigate the patterns of co-occurring birth defects in infants with CDH within the Chinese population.
- To identify statistically significant associations between CDH and other malformations.
Main Methods:
- Analysis of 1235 CDH cases with additional defects from the Chinese Birth Defects Monitoring Network (2007-2019).
- Calculation of adjusted observed-to-expected (O/E) prevalence ratios for defect combinations.
- Focus on non-syndromic cases to isolate specific co-occurrence patterns.
Main Results:
- Musculoskeletal, cardiovascular, central nervous system, facial, and renal defects were frequently associated with CDH.
- Cardiovascular defects were present in 76.7% of top co-occurring combinations.
- Polydactyly and syndactyly showed the highest adjusted O/E ratio (5963.37), indicating a strong association.
Conclusions:
- Observed co-occurrence patterns, especially involving cardiovascular and musculoskeletal systems, offer insights into developmental mechanisms.
- Findings guide future research into the embryology and pathogenesis of multiple congenital anomalies.
- Understanding these patterns can enhance diagnostic and therapeutic strategies for CDH patients.
Background:
The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.
Aims:
This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.
Materials And Methods:
We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis. Adjusted observed-to-expected prevalence (O/E) ratios were calculated for all two- to five-way combinations to discern patterns of co-occurring defects with CDH more frequently than expected by chance.
Results:
Among 1235 CDH cases associated with other birth defects, the top 30 combinations with the highest adjusted O/E ratios included musculoskeletal, cardiovascular, central nervous system, facial, and renal defects. Cardiovascular defects were involved in 76.7% of the top combinations, followed by central nervous system (23.3%) and musculoskeletal defects (20.0%). The combination of polydactyly and syndactyly anomalies exhibited the highest adjusted O/E ratio of 5963.37 (95% confidence interval: 5960.00-5966.73).
Discussion:
The relationship between musculoskeletal malformation and CDH may be explained from the aspects of epidemiology, embryology and pathogenesis. And mechanisms for the co-occurrence of cardiovascular and CDH may involve disruption of common pathways.
Conclusion:
Our analyses describe the co-occurrence patterns of birth defects in CDH infants and reveal several noteworthy patterns. The observed patterns can guide further study and enhance our comprehension understanding of the developmental mechanisms underlying multiple defects.
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