Diagnosis of CDH

Maternal-Fetal Medicine specialists work to quickly diagnose CDH. They will perform a comprehensive review of all tests and imaging to ensure that your baby’s CDH is not part of a larger problem, and they will coordinate follow-up care as needed.

The following may be performed:

• Amniocentesis. During this test, amniotic fluid is removed from the uterus for specialized testing. This test checks for chromosomal abnormalities that can occur alongside CDH.
• Fetal echocardiogram. Because some babies with CDH can also have heart problems, your baby may need to undergo an “echo” or ultrasound of the heart to:
  • Check for congenital (present at birth) heart problems.
  • Determine if the heart is affected by the increased pressure in the lungs due to their unusual growth and decreased size.
• Ultrasound. Your baby may need to undergo an ultrasound of the head to make sure there are no abnormalities, as well as no bleeding into or around the brain.
• MRI. Additional imaging to help confirm the diagnosis and assist with post-delivery planning.
• Genetic counseling. Genetic specialists conduct a customized risk assessment for certain health conditions for your baby based on the genetics of you and your partner.
• Consultations with pediatric surgery and neonatology. Multidisciplinary consultations are completed to ensure your baby’s care is coordinated for a seamless transition upon delivery.
• NICU tour. These tours allow you to meet the neonatologists who may care for your baby after delivery and learn what to expect throughout their stay in the NICU.
• Introduction to pediatric palliative care. This highly specialized team can provide additional support and care during the transition from pregnancy and delivery to your baby’s admission to the NICU and beyond.
• Opportunity for in utero treatment. Depending on the severity, there may be opportunities to explore Fetoscopic Endoluminal Tracheal Occlusion (FETO), a procedure designed to obstruct your baby’s airway before they are born to allow fluid to accumulate within their lungs. This promotes their expansion from within and allows the lungs to grow larger, which may improve survival.

After birth, your baby may need to undergo one or more of the following tests:

• Blood tests. Your baby’s blood will be checked for oxygen levels, which can help determine how well their lungs are working.
• Chest X-ray. This imaging test usually shows intestinal loops located in the chest, confirming that your baby has CDH.