Pediatric Congenital Diaphragmatic Hernia Differential Diagnoses

Updated: Dec 22, 2020
  • Author: Robin H Steinhorn, MD; Chief Editor: Dharmendra J Nimavat, MD, FAAP  more...
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Diagnostic Considerations

Special concerns

Using ultrasonography, congenital diaphragmatic hernia (CDH) may be prenatally diagnosed as early as the second trimester. [15] Suggestive findings include polyhydramnios, an absent or intrathoracic stomach bubble, and mediastinal and cardiac shift. A detailed examination (level II ultrasonography) is typically necessary.

Prenatal diagnosis allows for chromosomal analysis and screening for other anomalies prior to the infant's birth. In addition, it allows the mother time to make important decisions about the pregnancy, including delivery in a facility with a neonatal ICU (NICU) that offers advanced respiratory support for the newborn infant.

Developing meaningful prognostic information before birth continues to be difficult. Some advocate for assessment of lung hypoplasia using ultrasound measurements of liver herniation into the thorax, lung to head ratios (LHR), or pulmonary artery to aorta ratios (modified McGoon index). MRI of the fetus is a promising technique that allows more precise measurement of the lung volume indexed to the body volume. [16]

Differential Diagnoses