Unveiling the Spectrum: Case Series on Congenital Diaphragmatic Hernia Variations in Second Trimester Foetal Autopsies

Congenital Diaphragmatic Hernia (CDH) is a developmental defect characterised by abnormal diaphragm formation, leading to the herniation of abdominal contents into the thoracic cavity. CDH occurs in approximately 1 in 2,500 live births and can significantly affect pulmonary development and overall foetal health. The present series aimed to document the spectrum of presentations observed in second-trimester autopsies, which may aid in understanding the variability of the condition and its implications for foetal outcomes. Presentations of CDH were observed in three foetuses with gestational ages ranging from 14 to 28 weeks. Among the three CDH cases discussed, each presented a different type: one was bilateral CDH, one was left-sided CDH and one was right-sided CDH. The first specimen exhibited bilateral CDH of Bochdalek’s type on the right, with an absent hemi-diaphragm on the left. The foetus had massive herniation of abdominal contents into the right-side of the thoracic cavity, resulting in a significant mediastinal shift to the left. The second specimen displayed left-sided Bochdalek’s type of CDH, which was associated with herniation of the intestinal loops into the left-side of the thoracic cavity, resulting in a mediastinal shift to the right. The third specimen presented right-sided Morgagnian type of CDH, where only a small portion of the left lobe of the liver had herniated into the thoracic cavity and there was no mediastinal shift. The variability in presentations of CDH in the present case series underscores the complexity of the condition. Factors influencing outcomes include the timing of the hernia diagnosis, the degree of lung hypoplasia and the presence of associated anomalies. The identification of CDH through ultrasound allows for better prenatal counseling and management strategies for affected pregnancies.