Congenital Diaphragmatic Hernia Workup

Updated: Nov 19, 2021
  • Author: Daniel S Schwartz, MD, MBA, FACS; Chief Editor: Jeffrey C Milliken, MD  more...
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Laboratory Studies

Low levels of maternal serum alpha-fetoprotein (AFP) have been associated with congenital diaphragmatic hernia (CDH). However, decreased AFP also is observed with trisomy 18 and trisomy 21; thus, a low AFP level, by itself, is not diagnostic of CDH.


Imaging Studies

On chest radiography, [26] CDH may be signaled at an early stage by a finding of bowel and stomach in the chest cavity and shifting of the mediastinum (usually to the right). (See the image below.) At a later stage, CDH may be signaled by a suspicious mass incidentally found on a chest radiograph.

Anteroposterior view of chest in patient with cong Anteroposterior view of chest in patient with congenital diaphragmatic hernia shows herniation of bowel loops into left hemithorax, with right shift of heart and mediastinum.

For reaching a diagnosis of CDH in utero, a level 3 ultrasound examination is the criterion standard. Features indicative of CDH are as follows:

  • Polyhydramnios
  • Absent or intrathoracic stomach bubble
  • Mediastinal and cardiac shift away from the side of herniation
  • Fetal hydrops (rare)

Magnetic resonance imaging (MRI) can be utilized to show a fetal lung volume and, in some instances, to help determine postnatal mortality. [27]