How are congenital diaphragmatic hernias diagnosed?

Diana Meeks
Diana Meeks on behalf of Sigma Nursing
Family Practitioner
During a routine prenatal ultrasound, your doctor may be able to detect abnormalities with how the diaphragm is developing. An MRI may then be used to take a closer look before diagnosis of congenital diaphragmatic hernia is confirmed. If this birth defect goes unnoticed in a fetus, a diagnosis in a newborn is suspected based on the following symptoms:
  • difficulty breathing or breathing rapidly
  • increased heart rate
  • irregular inhaling and exhaling
  • sound of bowel in the chest
  • breathing noise absent on side with hernia
If one or more of these symptoms are present, your doctor will want to take an x-ray of the chest and may use blood tests to confirm a diagnosis of congenital diaphragmatic hernia.
Many times congenital diaphragmatic hernias (CDH) are diagnosed prenatally through imaging, before the baby is born. When the diagnosis of CDH is made, measurements can be taken by ultrasound or magnetic resonance imaging (MRI) to attempt to grade the severity of the CDH. However, these measurements are not always absolute and should be interpreted with caution by an expert in the management of CDH. For reasons that aren’t entirely clear, 85 percent of cases occur on the left side.

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