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Incidence and Risk Factors of Congenital Diaphragmatic Hernia (CDH)

Global Prevalence of Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a severe congenital malformation characterized by an abnormal opening in the diaphragm, allowing abdominal organs to move into the chest cavity, which can lead to significant respiratory distress and other complications. The global prevalence of CDH is approximately 2.3 per 10,000 live births, based on a systematic review of population-based epidemiological studies. This prevalence can vary significantly across different geographical regions, highlighting the need for more comprehensive global studies to better understand the distribution of CDH.

Incidence in Specific Populations

In the United States, a population-based study of over 32 million births reported an incidence of 1.93 per 10,000 births. Another study indicated that the incidence of CDH can range from 1.7 to 5.7 per 10,000 live births, depending on the study population. These variations underscore the importance of regional data in understanding the true incidence of CDH.

Risk Factors Associated with CDH

Several risk factors have been identified for the development of CDH. Male sex is a significant risk factor, with studies showing a higher incidence in male infants . Advanced maternal age, particularly mothers over 35 years, is also associated with an increased risk of CDH . Additionally, maternal smoking and alcohol use during pregnancy have been linked to a higher incidence of CDH.

Conversely, maternal black ethnicity has been found to be a protective factor against CDH. These findings suggest that both genetic and environmental factors play a role in the development of CDH.

Associated Conditions and Outcomes

CDH is often associated with other congenital anomalies, including cardiovascular malformations, which occur in about one-third of CDH cases. Infants with both CDH and congenital heart disease (CHD) have a significantly lower survival rate compared to those with isolated CDH, with survival rates dropping to 32% in cases with critical CHD.

Mortality and Long-term Morbidity

The overall mortality rate for CDH remains high, with studies reporting mortality rates of over 60%. However, there has been a decrease in mortality over time, particularly in high-volume centers and with advancements in medical care. Despite these improvements, long-term morbidity remains significant, with survivors often facing chronic respiratory issues, neurodevelopmental problems, and other health challenges .

Conclusion

Congenital diaphragmatic hernia is a complex condition with a significant impact on affected infants and their families. While the global prevalence is relatively low, the associated morbidity and mortality are substantial. Understanding the risk factors and associated conditions can help in early diagnosis and management, potentially improving outcomes for these infants. Further research is needed to explore the genetic and environmental factors contributing to CDH and to develop more effective treatment strategies.