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Conditions We Treat

Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia (CDH), is a rare congenital condition where the muscles in the diaphragm do not grow together, leaving a hole. The hole allows the intestines and other organs (stomach, liver) to move up into the baby’s chest. When this happens, it makes it hard for the lungs to grow.

What Is Congenital Diaphragmatic Hernia (CDH)?

Typically, the diaphragm is fully formed by the end of the first trimester. In babies with CDH, the muscles in the diaphragm do not grow together, leaving a hole. This can occur on the left or right side of the chest. It is rare that it happens on both sides. The hole allows the intestines and other organs (stomach, liver) to move up into the baby’s chest. When this happens, it makes it hard for the lungs to grow and develop. Babies born with CDH can have small, underdeveloped lungs (pulmonary hypoplasia), as well as reduced blood flow to the lungs caused by stiff  blood vessels in the lungs (pulmonary hypertension). No one knows the exact cause of CDH.

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How Is Congenital Diaphragmatic Hernia Diagnosed?

CDH may be found during routine prenatal ultrasound. Your doctor may refer you to a fetal center like Nationwide Children’s for evaluation or additional testing, such as:

  • Anatomy ultrasound: A high-resolution ultrasound to confirm the diagnosis and assess for other issues.
  • Fetal echocardiogram: A specialized ultrasound to look at your baby’s heart.
  • Fetal MRI (magnetic resonance imaging): Imaging that gives more detailed pictures of your baby’s organs that may not have been seen on ultrasound.
  • Cell-free fetal DNA testing: A screening test where a sample of your blood is taken to look for copies of fetal (baby) DNA. 
  • Amniocentesis: A medical procedure in which a small amount of amniotic fluid is taken and screened for genetic problems. This test is usually done in the middle of the second trimester. An amniocentesis can be used to confirm findings on the cell-free fetal DNA test.

How Is Congenital Diaphragmatic Hernia Treated During Pregnancy?

If a test finds you are carrying a baby with CDH, you will keep getting care from your obstetrician (OB/GYN). Your OB/GYN may also refer you to the Fetal Center at Nationwide Children’s, where you will meet with a team including maternal-fetal medicine subspecialists, neonatologists (doctors who specialize in treating newborns), pediatric and fetal surgeons (doctors who perform surgery), and nurses to learn more about your baby’s care. 

What Is My Baby’s Outcome (Prognosis)?

While all babies with CDH will need surgery, surgery is typically done a few days after birth. Outcomes are dependent on the severity of the condition and the presence of other differences (heart defects, chromosomal differences, etc.). The fetal center will discuss your child’s prognosis with you. 

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Our team is here to help as soon as you learn your baby may have a fetal concern or diagnosis. And a physician referral is not required. Our expert team evaluates and treats nearly every fetal complication, from the most common to the most complex conditions. With access to advanced diagnostic imaging, ultrasounds and fetal MRIs, you'll find the answers, and the treatment, here.

Looking for a second opinion? The Fetal Center team can help. Our team of specialists work together to provide comprehensive feedback on your diagnosis and treatment plan through either an in-person visit or via an online written report. Our team can help you decide which is right for you.

Complete the form below or call (614) 869-4609 and the Fetal Center team will be in touch with you.

 

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