Congenital Diaphragmatic Hernia (CDH)
A birth defect with a hole in the diaphragm affecting the lungs
Quick Facts
- Type: Birth defect of the diaphragm
- Main problem: Abdominal organs crowd the developing lungs
- Often found: Before birth on ultrasound
- Treatment: Newborn intensive care and surgery
Overview
Congenital diaphragmatic hernia (CDH) is a birth defect in which the diaphragm, the muscle that separates the chest from the abdomen and helps with breathing, does not form completely. The resulting hole allows organs that belong in the abdomen, such as the intestines, stomach, or liver, to move up into the chest. This crowds the developing lungs and can prevent them from growing and working normally.
CDH develops early in pregnancy and is often detected before birth on a routine ultrasound. The main concern is not the hole itself but its effect on the lungs and blood vessels, which can make breathing difficult after birth. CDH is a serious condition that requires specialized newborn intensive care and surgery, and outcomes have improved with advances in treatment, though they depend on how severely the lungs are affected.
Symptoms
Many cases are identified before birth. After delivery, signs depend on how much the lungs are affected and may include:
- Difficulty breathing soon after birth
- Fast breathing and a bluish color of the skin from low oxygen
- A chest that looks unusually shaped, sometimes with a sunken-looking abdomen
- A fast heartbeat
- Reduced breath sounds on the affected side
Severe cases cause breathing trouble within minutes of birth and need immediate intensive care. Milder cases are sometimes recognized later.
Causes
CDH happens when the diaphragm does not form fully during early development in the womb, leaving an opening. In most cases the exact reason is unknown.
- Developmental defect: The diaphragm fails to close completely during early pregnancy.
- Genetic factors: Some cases are linked to genetic changes or occur alongside other birth differences.
- Unknown causes: Many cases occur on their own without an identifiable reason or family history.
The displaced organs interfere with lung growth, which is the main source of difficulty after birth.
Risk Factors
- Most cases occur without a known risk factor
- Associated genetic conditions or chromosomal differences in some babies
- The presence of other birth defects
- A family history is uncommon but possible in certain cases
Diagnosis
CDH is frequently diagnosed before birth, allowing the family and care team to plan ahead.
- Prenatal ultrasound: Often detects abdominal organs in the chest during pregnancy.
- Fetal MRI and echocardiogram: May be used to assess the lungs, heart, and severity before birth.
- After birth: A chest X-ray confirms the diagnosis by showing abdominal organs in the chest, and blood tests help guide care.
Prenatal diagnosis allows delivery to be planned at a center with newborn intensive care and pediatric surgery.
Treatment
Treatment requires a specialized team and focuses first on stabilizing breathing, then on surgical repair.
- Stabilization: Babies are cared for in a neonatal intensive care unit, with breathing support such as a ventilator and careful management of oxygen and blood pressure.
- Surgery: Once the baby is stable, an operation moves the displaced organs back into the abdomen and closes the hole in the diaphragm, sometimes with a patch.
- Advanced support: The most severely affected babies may need extra support for the heart and lungs.
- Follow-up care: Ongoing monitoring of breathing, feeding, growth, and development.
The outlook depends largely on how well the lungs developed and whether other conditions are present.
Outlook and Follow-Up
CDH cannot generally be prevented, since it arises early in development, but planning and follow-up improve outcomes.
- Delivery at a specialized center when CDH is known before birth
- Long-term follow-up for lung function, growth, feeding, and development
- Support for related issues such as reflux or hearing in some children
- Family support and counseling throughout care
When to Seek Help
CDH is usually managed by a specialized newborn team from the start. Any newborn with breathing difficulty, fast breathing, or a bluish color of the lips or skin needs immediate emergency care. For a child who has had CDH repaired, contact the care team promptly for breathing problems, poor feeding or weight gain, repeated vomiting, or any new concerning symptoms, as ongoing follow-up is an important part of care.
Frequently Asked Questions
What is congenital diaphragmatic hernia?
It is a birth defect in which the diaphragm, the muscle separating the chest and abdomen, has a hole. Abdominal organs move up into the chest and crowd the developing lungs, which can make breathing difficult after birth.
How is CDH diagnosed?
It is often found before birth on a routine prenatal ultrasound, which may be followed by fetal MRI or echocardiogram to assess severity. After birth, a chest X-ray confirms the diagnosis by showing abdominal organs in the chest.
How is congenital diaphragmatic hernia treated?
Newborns are cared for in a neonatal intensive care unit and given breathing support to stabilize them. Once stable, surgery returns the displaced organs to the abdomen and closes the hole in the diaphragm. The most severe cases may need advanced heart and lung support.
What is the outlook for a baby with CDH?
The outlook depends mainly on how well the lungs developed and whether other conditions are present. Many children do well with specialized care, though some have ongoing breathing, feeding, or developmental needs that require long-term follow-up.
References
- MedlinePlus, U.S. National Library of Medicine. Diaphragmatic hernia.
- American Academy of Pediatrics (AAP). Congenital diaphragmatic hernia.
- Centers for Disease Control and Prevention (CDC). Birth Defects.