OVERVIEW

What is congenital diaphragmatic hernia?

Diaphragmatic hernia is a developmental abnormality. It is a congenital malformation where abdominal organs such as intestines, liver, and spleen move upward through a defect in the diaphragm into the chest cavity, often accompanied by abnormal lung development. During the fetal period, since the lungs do not perform respiratory functions, the fetus can develop normally (except for the lungs). However, after birth, the underdeveloped lungs cannot meet the body's respiratory needs, leading to rapid onset of breathing difficulties and life-threatening risks. Severe cases require immediate surgery to save the child's life.

Can congenital diaphragmatic hernia be cured?

The survival rate of congenital diaphragmatic hernia is around 50%. Newborns delivered in high-level hospitals (tertiary hospitals) have higher survival rates, reaching 70%–92%. This is because approximately 35% of live-born infants with diaphragmatic hernia die before reaching a hospital capable of surgical treatment.

The severity of congenital diaphragmatic hernia mainly depends on the degree of residual lung development. If more functional lung tissue is preserved, surgical outcomes tend to be better. However, if the newborn has other malformations, lung fibrosis, or pulmonary hypertension, survival rates decrease.

Does congenital diaphragmatic hernia have sequelae?

After surgical treatment, abdominal organs such as intestines, liver, and spleen can be repositioned into the abdominal cavity, and the diaphragmatic defect can be closed. However, the function of the remaining underdeveloped lungs cannot be fully restored through surgery, potentially leaving sequelae such as pulmonary hypoplasia and pulmonary hypertension.

Is congenital diaphragmatic hernia common?

The incidence is approximately 1 in 2,200 live births. Prenatal ultrasound can detect congenital diaphragmatic hernia. About 40%–50% of cases are associated with other organ malformations, and 10%–20% have chromosomal abnormalities.

SYMPTOMS

What are the symptoms of congenital diaphragmatic hernia in children?

Acute and severe respiratory distress may occur at birth or within a few hours after birth. The child may gasp for breath, have weak and faint cries resembling a kitten's meow, or be unable to cry properly, making only whimpering sounds. Their complexion may turn purple or dark. These symptoms gradually worsen over time. In severe cases, the child may turn completely purple, stop crying, and become unresponsive. Without prompt treatment, this condition can be life-threatening.

CAUSES

What are the common causes of congenital diaphragmatic hernia?

• During weeks 3–16 of embryonic development, a critical period for lung formation, harmful external stimuli can lead to pulmonary hypoplasia.
• Between weeks 4–10 of embryonic development, when the pleuroperitoneal folds close, harmful stimuli may disrupt the separation of the thoracic and abdominal cavities, causing abnormal diaphragm development.

Both scenarios contribute to congenital diaphragmatic hernia. Although over 50% of cases involve other developmental anomalies, no single genetic locus controls it. Congenital diaphragmatic hernia is considered a polygenic and/or multifactorial genetic disorder.

Maternal use of antiepileptic drugs, quinine, or thalidomide during pregnancy may be high-risk factors for diaphragmatic hernia.

Which newborns are more likely to develop diaphragmatic hernia?

Congenital diaphragmatic hernia typically occurs sporadically without family history. Even identical twins may not both develop the condition. It is associated with the child’s genetic makeup and intrauterine developmental environment.

DIAGNOSIS

What tests are needed to confirm congenital diaphragmatic hernia? Why? What are the purposes of these tests?

Chest X-ray, thoracic ultrasound, cardiac ultrasound, and chest CT are required to assess the structure of the thoracic cavity. Blood gas analysis, complete blood count, and biochemical tests are also necessary.

• Chest X-ray: The most straightforward imaging test for evaluating chest structure. Diaphragmatic hernia presents highly characteristic X-ray findings, such as intestinal shadows in the thoracic cavity. It can also diagnose meconium aspiration syndrome and assess disease severity.
• Thoracic ultrasound and chest CT: Further examinations to evaluate thoracic structure, providing more detailed and comprehensive information than X-rays, depending on the condition.
• Blood gas analysis: A blood test to assess cardiopulmonary function, essential for diagnosing respiratory failure.
• Complete blood count and biochemical tests: Help evaluate the body's basic condition, including liver and kidney function.
• Cardiac ultrasound: Assesses complications like pulmonary hypertension and evaluates cardiac function.

What precautions should be taken for congenital diaphragmatic hernia patients undergoing tests?

Congenital diaphragmatic hernia requires hospitalization. Doctors will schedule necessary tests once the condition stabilizes. If respiratory distress occurs, priority is given to immediate and effective treatment. Diagnostic tests should not delay critical care.

What are the comorbidities or complications of congenital diaphragmatic hernia?

More comorbidities or complications indicate a more severe condition. Possible associated conditions include congenital heart disease, chromosomal abnormalities, pulmonary hypoplasia, persistent pulmonary hypertension, respiratory failure, and heart failure.

Additionally, after surgical repair of congenital diaphragmatic hernia, early complications may include bleeding, chylothorax, and mesh infection. Late complications can involve chronic respiratory disease, recurrent hernia, spinal or chest wall deformities, gastrointestinal disorders, and neurological sequelae. The most severe complication is recurrent pulmonary hypertension, which can be life-threatening.

TREATMENT

Which department should be consulted for congenital diaphragmatic hernia?

Neonatal surgery, Neonatal Intensive Care Unit (NICU), Pediatric surgery, Pediatrics.

How is congenital diaphragmatic hernia treated?

Comprehensive treatment requires collaboration between neonatal surgery and neonatal intensive care units.

• Severe diaphragmatic hernias require prompt surgery. Preoperative measures include immediate endotracheal intubation and ventilator support to ensure adequate oxygen supply. Cardiac function must be protected, pulmonary hypertension treated, and heart failure prevented.
• Postoperative care focuses on maintaining cardiopulmonary function. For cases complicated by respiratory distress syndrome, pulmonary surfactant administration may benefit the infant. Extracorporeal membrane oxygenation (ECMO) can be considered when combined cardiopulmonary failure occurs.
• Since diaphragmatic hernias can be detected prenatally (around 24 weeks via ultrasound showing intestinal displacement into the thoracic cavity), fetal endoscopic surgery has been explored in clinical studies abroad. However, current evidence doesn't conclusively show improved survival rates or fewer long-term complications from fetal surgery, requiring further research.

What should be noted during hospitalization for congenital diaphragmatic hernia?

• This is a life-threatening condition. Prenatal diagnosis should prompt delivery at hospitals with advanced neonatal surgery and NICU capabilities to ensure immediate treatment and improve survival chances.
• As infants require isolated hospitalization without parental accompaniment, mothers should maintain breastmilk production through regular pumping. Frozen storage in breastmilk bags ensures availability post-discharge, benefiting the child's health and neurological development while strengthening maternal bonding during recovery.
• If the infant's condition stabilizes, transition to accompanied care allows direct breastfeeding alongside medical treatment.

Is follow-up required after congenital diaphragmatic hernia treatment?

Regular follow-ups (typically monthly initially) are necessary to assess development, including physical examinations and potential imaging.

Can congenital diaphragmatic hernia recur after treatment?

Both primary suture repair and patch repair carry recurrence risks (~20%). Recurrent hernias require reoperation.

DIET & LIFESTYLE

What should children with congenital diaphragmatic hernia pay attention to in their diet?

Newborns should be breastfed as a priority. Formula should only be used as a substitute if breastfeeding is truly unavailable.

What should be noted during the nursing process and daily life of children with congenital diaphragmatic hernia?

• Post-surgery, special attention should be paid to the growth and development of children with diaphragmatic hernia. Due to the possibility of hernia recurrence from mesh repair, regular chest X-rays are necessary. Monitor whether the child's chest development is symmetrical, as children with diaphragmatic hernia may also have spinal or thoracic deformities.
• After returning home, parents should engage in more skin-to-skin contact with the child, such as gentle massage, as it benefits development. Maintain eye contact and talk to the baby frequently, as these interactions promote brain development.
• Limit visits from guests and avoid close contact, such as kissing, as the child is recovering from a serious illness and is more susceptible to infections. Minimize outings and social interactions to reduce infection risks. If someone in the household is sick, practice frequent handwashing, wear masks, and ensure proper ventilation. Keep the child away from secondhand and thirdhand smoke. Additionally, family members should get seasonal flu vaccinations to lower the child's risk of illness.

PREVENTION

Can congenital diaphragmatic hernia be prevented?

Congenital diaphragmatic hernia is a developmental defect where abdominal contents herniate into the chest cavity. The exact cause of the diaphragm's failure to close properly is unknown but may involve genetic or environmental influences during the formation of the diaphragm and other body structures.

Current evidence suggests possible triggers from environmental factors, with some cases linked to vitamin A deficiency or the use of thalidomide, antiepileptic drugs, and quinine.

Therefore, standardized prenatal care, medication safety, and balanced nutrition during pregnancy may help reduce the occurrence of congenital diaphragmatic hernia to some extent.