Congenital diaphragmatic hernia (CDH) is a defect in an unborn baby’s diaphragm, the muscle that divides the chest cavity and abdominal cavity.

CDH occurs when the diaphragm does not close the right way during the baby’s development and abdominal organs push (“herniate”) through the defect into the chest cavity.

This can occur on the left or right side, but left is more common. The organs that come up into the chest can press on the lungs and can result in a condition in which the lungs remain small and underdeveloped, also called pulmonary hypoplasia. Some babies with CDH also develop conditions affecting their heart, liver, intestines and nervous system development.

CDH is not usually inherited, and its cause is not known. CDH occurs in about one in 2,200 live births and is usually seen during a routine prenatal ultrasound in the first or second trimester.

Congenital diaphragmatic hernias can range from mild to severe. In the best cases, infants do very well with routine prenatal and neonatal care, and may not need emergency surgery after birth. Lungs in these babies with a mild form of CDH will still be smaller than normal, but they have the chance to grow and adapt for many years. Many of these children can lead normal, active lives without long-term problems.

Babies with severe CDH will struggle after birth. Some will not survive. Others are saved through intensive medical care. However, these babies often have long-term health issues with breathing, feeding, growth, hearing and development.

Patients who come to the Cincinnati Children's Fetal Care Center for a congenital diaphragmatic hernia evaluation have a number of diagnostic tests that help our specialists be sure of the diagnosis. We can look very closely at how the baby is developing, and decide how to best plan for the baby’s care. Diagnostic tests include:

• Ultrasound to study the entire chest and abdomen to look for very subtle signs of CDH that help to predict the severity of lung problems that go along with CDH.
• Fetal MRI to help look more closely at the baby’s condition and rule out other problems the baby could have due to CDH.
• Fetal echocardiography, a high-tech ultrasound of the baby’s heart, to see if the baby has a heart defect, which can happen along with CDH.
• Genetic studies to look at the chromosomes or other genetic material that make up the baby to see if there are changes that could have caused CDH.

After the tests have been completed, patients meet with a team of medical specialists to talk about the results, develop a detailed birth plan and discuss care for the baby after birth. Each team member contributes expertise to be sure that every aspect of a child’s care is taken care of. Team members include:

• Maternal-fetal medicine specialists
• Pediatric surgeons
• Neonatologists
• Pediatric radiologists
• Fetal echocardiologists
• Respiratory therapists
• Advanced practice neonatal nurses
• Fetal nurses
• Occupational therapists
• Speech therapists
• Nutritionists

We encourage referring physicians to participate in the team meeting via video conferencing and contribute their insights to their patient’s care.

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