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Congenital diaphragmatic hernia

Augusto Zani1,2, Wendy K Chung3, Jan Deprest4,5

  • 1Division of General and Thoracic Surgery, The Hospital for Sick Children, Department of Surgery, University of Toronto, Toronto, Ontario, Canada. augusto.zani@sickkids.ca.

Nature Reviews. Disease Primers
|June 1, 2022
PubMed

Insights

Congenital diaphragmatic hernia (CDH) is a rare defect impacting fetal lung development and leading to severe cardiopulmonary issues. Early diagnosis and evolving treatments like fetal endoscopic tracheal occlusion offer improved outcomes for affected infants.

Area of Science:

  • Pediatric Surgery
  • Neonatology
  • Developmental Biology

Background:

  • Congenital diaphragmatic hernia (CDH) is a critical birth defect involving diaphragm malformation and abdominal organ herniation into the chest.
  • This condition leads to pulmonary hypoplasia, pulmonary hypertension, and cardiac dysfunction, significantly increasing mortality and morbidity.
  • While the exact cause is unknown, genetic factors contribute in about a third of CDH cases.

Purpose of the Study:

  • To provide a comprehensive overview of congenital diaphragmatic hernia (CDH).
  • To discuss current diagnostic methods, prenatal and postnatal management strategies, and evolving therapeutic options.
  • To highlight long-term morbidities in survivors and emerging research avenues.

Main Methods:

  • Diagnosis relies on antenatal ultrasonography, fetal MRI, and echocardiography for risk stratification.
  • Prenatal management may involve fetal endoscopic tracheal occlusion to enhance lung growth.
  • Postnatal care focuses on cardiopulmonary stabilization, potentially utilizing extracorporeal life support.

Main Results:

  • CDH management is evolving with advancements in pulmonary hypertension treatment, ventilation, and surgical techniques.
  • Survivors frequently experience long-term multisystem issues, including pulmonary, gastrointestinal, musculoskeletal, and neurodevelopmental problems.
  • Emerging research explores small RNA biomarkers and regenerative medicine for fetal lung development.

Conclusions:

  • Congenital diaphragmatic hernia presents complex cardiopulmonary challenges requiring multidisciplinary care.
  • Continuous evolution of therapeutic strategies and ongoing research are crucial for improving survival and quality of life for CDH patients.
  • Focus on regenerative medicine and biomarkers holds promise for future advancements in CDH treatment.

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