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Prenatal Diagnosis, In Utero Management, and Perinatal Outcomes of Congenital Diaphragmatic Hernia

Felicia V LeMoine1, Sami Backley, Edgar Hernandez-Andrade

  • 1Division of Fetal Intervention, Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School, University of Texas Health Science Center, Houston, Texas.

Clinical Obstetrics and Gynecology
|April 29, 2025
PubMed

Insights

Congenital diaphragmatic hernia (CDH) is a rare birth defect. Prenatal diagnosis using ultrasound and interventions like FETO show promise for improving outcomes in severe cases, though more research is needed.

Area of Science:

  • Medical Genetics
  • Neonatal Surgery
  • Fetal Medicine

Background:

  • Congenital diaphragmatic hernia (CDH) affects 0.02%-0.03% of live births.
  • The causes of CDH are often complex and multifactorial.
  • Early detection and severity assessment are crucial for management.

Purpose of the Study:

  • To review the role of sonographic screening in CDH detection.
  • To evaluate the utility of lung-to-head ratio in predicting CDH severity.
  • To discuss the impact of fetal endoscopic tracheal occlusion (FETO) on CDH outcomes.

Main Methods:

  • Review of current literature on CDH diagnosis and management.
  • Analysis of sonographic screening efficacy and predictive measures.
  • Assessment of outcomes following prenatal interventions like FETO.

Main Results:

  • Sonography detects approximately 70% of CDH cases.
  • Lung-to-head ratio aids in predicting disease severity.
  • FETO has improved outcomes for severe left-sided CDH, but data for right-sided CDH and long-term effects are limited.

Conclusions:

  • Prenatal diagnosis of CDH is feasible through ultrasound.
  • Lung-to-head ratio is a valuable prognostic tool.
  • Further investigation is required for right-sided CDH and long-term outcomes after FETO.

Keywords:
FETOcongenital diaphragmatic herniafetoscopic endotracheal occlusion

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