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Congenital Diaphragmatic Hernia

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Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia (CDH) is a rare but serious birth defect in which a hole in the diaphragm allows abdominal organs such as the stomach, intestines, or liver to move into the chest cavity. This interferes with normal lung development, potentially causing breathing difficulties at birth.

Causes

The exact cause of CDH is often unknown. It may result from a combination of genetic and environmental factors affecting fetal development. In some cases, it can be associated with other congenital anomalies or genetic syndromes.


Symptoms

  • Difficulty breathing immediately after birth

  • Cyanosis (bluish skin due to lack of oxygen)

  • Poor chest expansion on the affected side

  • A flat or sunken abdomen

  • Fast heart rate and low blood pressure

  • Scaphoid (sunken) appearance of the abdomen


Diagnosis

  • Prenatal Ultrasound: Often detected during a routine fetal anomaly scan.

  • Fetal MRI or Echocardiogram: Used to assess severity and lung development.

  • Postnatal Chest X-ray: Confirms diagnosis after birth if not identified prenatally.


Treatment

Management of CDH is complex and requires specialized neonatal and surgical care:

Stabilization After Birth

  • Breathing support (ventilator or ECMO in severe cases)

  • Monitoring oxygen levels and vital signs

Surgical Repair

  • Surgery is performed to close the hole in the diaphragm and reposition the abdominal organs back into the abdomen.

  • May involve patch repair in large defects.

Postoperative Care

  • Intensive monitoring in NICU

  • Respiratory support, feeding support, and developmental follow-up


Prognosis

With early diagnosis, timely surgical intervention, and expert neonatal care, many babies with CDH can survive and lead healthy lives. However, outcomes may vary based on lung development, presence of other anomalies, and timing of treatment.


Prevention

There is no guaranteed prevention, but steps that may reduce risks include:

  • Early and regular prenatal care

  • Avoiding harmful substances during pregnancy

  • Genetic counseling in families with history of birth defects

  • Folic acid supplementation before and during early pregnancy

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