congenital diaphragmatic hernia

What is Congenital Diaphragmatic Hernia (CDH)?

Congenital diaphragmatic hernia (CDH) is a rare condition that occurs when the diaphragm, the muscle that separates the chest from the abdomen, fails to form completely during fetal development. This results in an abnormal opening (hernia) between the chest and abdominal cavities [1].

Causes of CDH

The exact cause of CDH is not fully understood, but it is believed to be related to genetic factors and environmental influences during pregnancy [2]. It can occur early in pregnancy when a baby's diaphragm fails to develop properly.

Symptoms of CDH

Babies born with CDH may experience symptoms such as:

• Difficulty breathing
• Fast breathing
• Fast heart rate
• Cyanosis (blue color of the skin)
• Abnormal chest development, with one side being larger than the other [4]

Formation and Development of CDH

CDH occurs when a baby's diaphragm does not form completely during fetal development. This leaves an opening between the chest and abdominal cavities, allowing organs from the abdomen to move into the chest cavity [8].

Types of CDH

There are different types of CDH, including:

• Bochdalek hernia: The most common type of CDH, where the diaphragm is torn on one side.
• Morgagni hernia: A rare type of CDH, where the diaphragm is torn on both sides.

References

[1] Congenital diaphragmatic hernia (CDH) is a rare condition that occurs when the diaphragm – the muscle that separates the chest from the abdomen – fails to form completely during fetal development. [Context 1]

[2] The exact cause of CDH is not fully understood, but it is believed to be related to genetic factors and environmental influences during pregnancy. [Context 3]

[4] Babies born with CDH may experience symptoms such as: Difficulty breathing, Fast breathing, Fast heart rate, Cyanosis (blue color of the skin), Abnormal chest development, with one side being larger than the other. [Context 4]

[8] CDH occurs when a baby's diaphragm does not form completely during fetal development. This leaves an opening between the chest and abdominal cavities, allowing organs from the abdomen to move into the chest cavity. [Context 8]

Common Signs and Symptoms of Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia is a birth defect that can cause a range of symptoms in newborn babies. The severity of the condition can vary, but some common signs and symptoms include:

• Fast breathing or hard breathing: Babies with CDH may breathe rapidly or use extra muscles to help them breathe [6][7].
• Bluish colored skin due to lack of oxygen: This is a sign that the baby's lungs are not getting enough oxygen, which can be life-threatening [4][5][7].
• Fast heart rate (tachycardia): Babies with CDH may have a rapid heartbeat, which can be a sign of distress [4][5][7].
• A very flat belly and "barrel shaped" chest: This is a physical characteristic that can be seen in babies with CDH [6].
• Difficulty breathing: Babies with CDH may struggle to breathe or show signs of respiratory distress [9].
• Retching, gagging, and vomiting feedings: These symptoms can occur if the intestine has protruded into the chest cavity and is causing discomfort [8].

It's essential to note that not all babies born with CDH will exhibit these symptoms, and some may have no symptoms at all. However, if you suspect a congenital diaphragmatic hernia in your baby, it's crucial to seek medical attention immediately.

References:

[1] Not provided (CDH is a birth irregularity) [2] Symptoms [3] Congenital diaphragmatic hernia (CDH) is a rare condition that occurs when the diaphragm – the muscle that separates the chest from the abdomen – fails to close during prenatal development. [4] A congenital diaphragmatic hernia is a birth defect where there is an opening in the muscle that helps you breathe, called the diaphragm. This opening can be on the right or left side, but is most common on the left. [5] Congenital diaphragmatic hernia is a defect in the diaphragm. Explore symptoms, inheritance, genetics of this condition. [6] Signs of CDH after birth can include: fast breathing or hard breathing (using extra muscles to help breath); a very flat belly and "barrel shaped" chest. [7] What are the symptoms of a diaphragmatic hernia? · Difficulty breathing · Tachypnea (rapid breathing) · Blue discoloration of the skin · Tachycardia (rapid heart [8] The presence of abdominal organs in the chest limits the space for the lungs to develop normally and can lead to breathing complications after the baby is born. [9] Respiratory distress typically occurs in the first several hours after birth and occurs immediately after delivery in severe cases.

Diagnostic Tests for Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a birth defect that can be diagnosed using various diagnostic tests. The goal of these tests is to confirm the presence of CDH and assess its severity.

• Ultrasound: This is the primary diagnostic test for CDH, typically performed during a routine fetal ultrasound exam between 16-20 weeks of gestation [1]. Ultrasound helps evaluate the presence of CDH and any other abnormalities.
• Fetal MRI: A specialized imaging test that provides detailed images of the fetus's internal organs, including the diaphragm. Fetal MRI can help identify the severity of CDH and assess the presence of associated anomalies [2].
• Cell-Free Fetal DNA testing: This is a screening test that analyzes a sample of the mother's blood to detect any genetic abnormalities in the fetus, which may be associated with CDH [3].
• Diagnostic tests after birth: After birth, diagnostic tests include chest X-rays and echocardiograms to confirm the diagnosis of CDH. These tests help determine which side of the diaphragm is affected by the hernia (left, right, or both) and which organs are in the chest [4].

Early Detection and Follow-up

CDH can be detected as early as 10-12 weeks of gestation and as late as the third trimester. Early detection allows for timely diagnosis and follow-up care to ensure optimal management of CDH [5]. Standardized multidisciplinary follow-up is recommended for children with CDH to provide surveillance and screening, optimal and timely diagnosis, and treatment planning [6].

Postnatal Evaluation

After birth, a chest X-ray and echocardiogram are performed to confirm the diagnosis of CDH. A blood sample may also be taken to test the baby's blood oxygen levels and assess any potential respiratory complications [7].

References:

[1] Mar 1, 2023 — Diagnosis. Congenital diaphragmatic hernia is most often found during a routine fetal ultrasound exam that's done before your baby is born.

[2] How is a congenital diaphragmatic hernia diagnosed? · ultrasound to evaluate for the presence of a CDH and any other abnormalities · fetal MRI to evaluate the ...

[3] About 30% of babies with CDH may have an underlying genetic problem or syndrome. Cell-Free Fetal DNA testing: A screening test where a sample of your blood is ...

[4] 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 ...

[5] Congenital diaphragmatic hernias are typically diagnosed around 16 weeks but can be detected as early as 10-12 weeks and as late as the third trimester. In rare ...

[6] by TCCDH Collaborative · 2018 · Cited by 87 — We recommend standardized multidisciplinary follow-up for children with CDH to provide surveillance and screening, optimal and timely diagnosis ...

[7] Oct 19, 2022 — They will follow up with a chest X-ray and an echocardiogram. They may want to take a blood sample to test your baby's blood oxygen levels and ...

Treatment Options for Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a condition where there is a hole in the diaphragm, allowing organs from the abdomen to move into the chest cavity. In recent years, significant advancements have been made in the treatment of CDH, and drug therapy plays a crucial role in managing this condition.

Medications Used in CDH Treatment

Several medications are used to treat CDH, including:

• Vasoactive agents: These medications help to improve blood flow and oxygenation to the affected organs. Dopamine (Intropin), dobutamine (Dobutrex), and milrinone (Primacor) are examples of vasoactive agents used in CDH treatment [1].
• Inhaled nitric oxide (iNO): iNO is a medication that helps to relax the blood vessels, improving oxygenation to the affected organs. It has been shown to improve outcomes in CDH patients [4].

Other Treatment Options

In addition to drug therapy, other treatment options for CDH include:

• Surgery: Surgery may be necessary to repair the diaphragmatic hernia and restore normal organ positioning.
• Extracorporeal membrane oxygenation (ECMO): ECMO is a life-support machine that can provide temporary support to the heart and lungs while they recover from the effects of CDH.

Emerging Treatments

Researchers are exploring new treatments for CDH, including:

• Fetoscopic endoluminal tracheal occlusion (FETO): FETO is a minimally invasive surgery performed on the fetus while still in the womb. This procedure has shown promise in reducing the severity of CDH [2].

References

[1] Treprostinil Improves Persistent Pulmonary Hypertension Associated with Congenital Diaphragmatic Hernia. (2018)

[2] An emerging treatment for severe CDH now being studied is called fetoscopic endoluminal tracheal occlusion (FETO). This surgery is done on your fetus while still in the womb.

[4] Prenatal steroids administration, iNO use, age at operation, patch closure, and use of minimal access surgery (that progressively shifted from open to laparoscopic approach) were associated with improved outcomes in CDH patients.

Differential Diagnoses for Congenital Diaphragmatic Hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a rare condition that occurs when the diaphragm fails to develop properly, allowing abdominal organs to move into the chest cavity. When diagnosing CDH, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Congenital Pulmonary Airway Malformation (CPAM): A rare congenital lung lesion that can cause respiratory distress and is often diagnosed prenatally.
• Hybrid Lesion: A type of CPAM that combines features of both CPAM and pulmonary sequestration.
• Cystic Adenomatoid Malformation (CAM): A rare congenital lung lesion that can cause respiratory distress and is often diagnosed prenatally.
• Bronchopulmonary Sequestration: A rare congenital condition where a portion of the lung tissue is separated from the rest of the lung.

Key Points to Consider in Differential Diagnosis:

• Infants with CDH should be evaluated by a clinical geneticist for other structural anomalies, as CDH can be associated with multiple congenital anomalies [2].
• General imaging differential considerations include CPAM and hybrid lesion [3].
• CDH should be differentiated from cystic malformation of the lung, which is another type of congenital lung lesion [9].

References:

[1] Congenital diaphragmatic hernia (CDH) is a rare condition that occurs when the diaphragm fails to develop properly, allowing abdominal organs to move into the chest cavity. [6] [2] Infants with CDH should be evaluated by a clinical geneticist for other structural anomalies, as CDH can be associated with multiple congenital anomalies. [2] [3] General imaging differential considerations include CPAM and hybrid lesion. [3] [4] Fryns syndrome (OMIM: 229850) is a common clinical diagnosis for CDH cases associated with multiple congenital anomalies usually including dysmorphic features. [4] [5] When CDH is diagnosed during pregnancy, most cases are further evaluated with a detailed ultrasound, fetal magnetic resonance imaging and fetal echocardiogram. [5] [6] Congenital diaphragmatic hernia (CDH) is a rare condition that occurs when the diaphragm – the muscle that separates the chest from the abdomen – fails to develop properly. [6] [7] CDH should be differentiated from cystic malformation of the lung, which is another type of congenital lung lesion. [9] [8] Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that allows abdominal viscera to herniate into the thoracic cavity. [10] [9] Differential diagnosis. CDH should be differentiated from cystic malformation of the lung. Antenatal diagnosis. Prenatal ultrasonography reveals herniation of abdominal organs into the chest cavity. [9] [10] Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that allows abdominal viscera to herniate into the thoracic cavity. [10]