What Is a Congenital Diaphragmatic Hernia?
Congenital diaphragmatic hernia (CDH) is a rare but potentially life-threatening condition that arises during fetal development. CDH can result in an abnormal opening in the diaphragm (a muscle that separates the chest from the abdomen), allowing the abdominal organs to migrate into the chest cavity. This can compress the developing lungs and impair their function. This can make it hard for the baby to breathe after birth. It affects approximately 1 in 2,500 to 1 in 4,000 live births. CDH poses significant challenges for both healthcare professionals and families due to its complex nature and severe respiratory compromise.
What Are the Symptoms of Congenital Diaphragmatic Hernia?
The symptoms of congenital diaphragmatic hernia may vary depending on the severity of the condition.
Babies with CDH may have the following symptoms:
-
Pulmonary hypoplasia - Severe trouble breathing due to compressed lungs, which may impair the lung's ability.
-
Pulmonary hypertension - Increased blood pressure that affects the arteries on the right side of the heart and the lungs
-
Development anomalies of the heart.
-
Damage to the stomach, intestines, liver, and other abdominal organs.
How Is Congenital Diaphragmatic Hernia Diagnosed?
Congenital diaphragmatic hernia is often diagnosed during a routine prenatal fetal examination. Advancements in prenatal imaging, such as ultrasound and magnetic resonance imaging (MRI), have improved the early diagnosis of CDH. In some rare cases, the diagnosis of CDH may only be made after birth. This may be because of mild respiratory and intestinal problems or no signs or symptoms.
Prenatal Ultrasound - Generally, the first fetal ultrasound is performed during the first trimester of the pregnancy. It shows the number and size of the fetus. Then, another ultrasound is performed during the second trimester of the pregnancy. In this examination, the healthcare provider checks the baby's development and the size and location of the baby's internal organs like the lungs, heart, etc., which will help to check and keep track of this condition.
Magnetic Resonance Imaging (MRI) - In cases where additional information is required or when ultrasound findings are inconclusive, MRI is done to provide detailed images; it aids in a more comprehensive diagnosis.
Other tests - More tests may be performed to assess the function of the baby's organs:
-
Fetal Echocardiogram - Sound waves produce images of the fetus's heartbeat and blood pumping capacity. These images help to identify problems with the developing heart.
-
Genetic Tests - This test helps to identify genetic syndromes or other gene changes that may be linked with CDH. Genetic counseling consisting of a multidisciplinary team, including obstetricians, neonatologists, and pediatric surgeons, can help the parents understand these test results and give them more information about their baby's condition and available treatment.
What Is the Treatment for Congenital Diaphragmatic Hernia?
Fetal Management
-
Fetal Endoscopic Tracheal Occlusion (FETO) - It is a rare procedure done in babies with very severe CDH. FETO involves the temporary occlusion of the fetal trachea to stimulate lung growth. A small detachable balloon is placed in the fetus's trachea during the middle of the second trimester using a small fetoscope. The fetal lung generally produces fluid, and the balloon prevents this fluid from escaping the lungs and accumulating. A gentle pressure is created due to the fluid build-up; this pressure helps the small lung to expand and grow.
-
Selective Fetoscopic Endotracheal Occlusion (SFETO) - It is a modification of FETO. SFETO allows for more precise and selective tracheal occlusion.
Delivery Management
Babies with CDH have an excellent chance to lead a perfectly normal life. In most cases, special prenatal management, in terms of type or delivery timing, is unnecessary. However, they should be delivered in a perinatal center with an intensive care nursery with well-experienced neonatal and pediatric surgeons because the babies cannot be transported after birth, which can be very dangerous for the infant.
Immediate Postnatal Care
The immediate postnatal period is very important for infants with CDH, as respiratory distress is a severe manifestation of the condition. So, the primary focus will be stabilizing the newborn and providing respiratory support.
The following are the important aspects of immediate postnatal care:
-
Respiratory Support - Immediate intubation and mechanical ventilation are necessary for infants with CDH to support their respiratory function. High-frequency oscillatory ventilation (HFOV) and gentle ventilation are commonly provided to minimize lung damage.
-
Extracorporeal Membrane Oxygenation (ECMO) - In severe cases, conventional ventilation may not be sufficient. In such cases, ECMO may be considered. It provides temporary respiratory and circulatory support, allowing the lungs to recover.
-
Hemodynamic Stability - Monitoring and maintaining hemodynamic stability are very important, as CDH can also affect cardiac function.
Surgical Interventions:
Surgical repair for the newborn is not an emergency surgery. It is only performed when the infant is stabilized. The surgical technique may vary depending on the size and location of the defect.
-
Primary Repair - Primary repair is the preferred method in most cases. It is performed if the opening in the diaphragm is small and there is adequate diaphragmatic muscle. Primary repairs involve suturing the hole to restore its integrity. Then, the abdominal organs are repositioned into the abdominal cavity, which is crucial in restoring normal anatomy.
-
Patch Repair - If the opening in the diaphragm is too large or a significant portion of the diaphragm is absent, a patch repair may be performed. The surgeon will need additional tissue or material to close the hole. Various materials, including synthetic patches or autologous tissue, can close the diaphragm. Often, a synthetic biocompatible material will be used to close the opening.
-
Muscle Flap Repair - In some patients, the surgeon may use a flap of muscle like the latissimus dorsi or internal oblique from the infant's abdomen or back to close the defect. This is called a muscle flap repair.
-
Minimally Invasive Techniques - Some centers are exploring minimally invasive techniques for CDH repair, like thoracoscopic or laparoscopic approaches. These approaches aim to minimize surgical trauma and improve postoperative recovery.
Long-Term Follow-up and Outcomes :
While survival rates for CDH have improved over the years, long-term follow-up is important to monitor for potential complications and optimize the quality of life for affected individuals.
Conclusion:
Managing congenital diaphragmatic hernia is complex and requires collaboration and a multidisciplinary approach. It needs immediate medical attention as it can cause life-threatening complications for newborns. As there is a great advancement in prenatal diagnosis and surgical techniques, there has been a significant improvement in the outcomes for affected individuals.
