Congenital Diaphragmatic Hernia Treatment in Delhi, India

CDH is a serious birth defect where there is an abnormal opening in a newborn’s diaphragm — the muscle that separates the chest cavity from the abdominal cavity. This opening allows abdominal organs (such as the stomach, intestines, liver, and spleen) to move into the chest cavity, which can interfere with lung development. If left untreated, congenital diaphragmatic hernia can lead to chronic lung disease, neurodevelopmental delay or a musculoskeletal disorder. It is therefore important to seek expert care to ensure that the newborn receives the specialised medical attention required for a successful recovery.

Though the exact causes of CDH are not fully understood, research suggests a combination of genetic and environmental factors may contribute to the development of the congenital anomaly. Here are some possible causes of CDH.

Chromosomal Abnormalities

A chromosomal abnormality occurs when a baby is born with more or less than 46 chromosomes or one of their chromosomes has a broken or rearranged part. Chromosomal abnormalities can:

• Cause certain important genes to work too hard or underperform, affecting how the diaphragm develops
• Affect the on"on/off switches" (called enhancers or promoters) that regulate the genes critical for normal diaphragm development
• Affect certain genes that help control how cells respond to vitamin A, how they move around in the body, and how muscles form. Such chromosomal abnormalities can prevent the diaphragm from closing properly, leading to CDH 

Single-gene Mutations

Resulting from changes that occur in the DNA sequence of a specific gene, a single gene mutation can affect the way that gene functions. Some single-gene mutations that can lead to CDH are:

• GATA4 mutations: Can affect the process of transcription ((involves copying the information encoded in a DNA sequence into messenger RNA) of other genes responsible for the formation and closure of the diaphragm.
• ZFPM2 (FOG2) mutations: Can affect the way the ZFPM2 gene interacts with the GATA4 gene, or impact its ability to control other important genes, leading to structural defects that can cause CDH.
• WT1mutations: Can lead to abnormal development or regression of transient structures that form a part of the diaphragm.

Vitamin A Deficiency

During early pregnancy the body converts vitamin A into retinoic acid, a substance that helps control how genes work and how the baby develops. Retinoic acid signaling is essential for dipagram development and its deficiency can result in congenital diaphragmatic hernia. 

Maternal Infections 

The diaphragm forms between the 4th and 10th week of gestation. Certain infections during this period can disrupt organogenesis (the biological process during embryonic development where the organs of the fetus form), potentially interfering with diaphragm formation. Some maternal infections can trigger a systemic inflammatory response, resulting in the release of cytokines that can affect how mesenchymal and epithelial cells (play a crucial role in diaphragm development) communicate with each other. 

Chemical Exposures 

Some chemicals are teratogens, meaning they can cause developmental abnormalities in the fetus. Exposure to these chemicals during the critical window for diaphragm development (around the 4th–10th week of gestation), can interfere with tissue growth. Some toxic chemical compounds including dioxins can disrupt the retinoid signaling pathway, increasing the risk of CDH.

Understanding congenital diaphragmatic hernia (CDH) risk factors is crucial for early diagnosis, management, and prevention strategies. Here are some known CDH risk factors. 

Sex

CDH occurs more frequently in males than in females. However, the exact reason why males are at higher risk than females is unknown. Some researchers believe that the hormones male babies are exposed to while they're growing in the womb might prevent the diaphragm from closing properly before birth. Many medical scientists are of the opinion that sex-linked genetic factors make male fetuses more susceptible to CDH than female fetuses. 

Assisted Reproductive Technology (ART)

Some studies suggest that babies conceived via ART may be at higher risk of birth defects including CDH, as assisted reproductive technologies (ART) can sometimes change the way certain genes are turned on or off during important stages of development, preventing the diaphragm from developing properly.

Associated Anomalies

In around 40-50% of CDH cases, the birth defect is caused by other syndromic or genetic congenital anomalies such as trisomy 18 and Fryns syndrome. These anomalies are usually caused by issues that occur during early fetal development, affecting several parts of the body at once—including the diaphragm. 

Gestational Diabetes .

High blood sugar levels in early pregnancy—particularly before the diaphragm is fully formed (around the 8th week of gestation)—can affect the formation and development of an embryo, increasing the risk of CDH. Also hyperglycemia in pregnancy leads to increased production of DNA and proteins during organ development, possibly contributing to structural birth defects including CDH.

Certain Medications 

Some medications taken during pregnancy can act as teratogens (substances or agents that can potentially cause birth defects in a developing fetus). They may affect retinoid signaling pathways increasing the chances of the fetus developing CDH.

The symptoms of CDH can vary in severity and are often observed shortly after birth. Recognising these signs early is critical for timely diagnosis and treatment. Below are some of the common symptoms associated with the condition.

Breathing Problems 

One of the first and most common signs of CDH is difficulty breathing. Babies born with CDH breathe faster than normal and their chest muscles may visibly retract as they breathe in. They often make grunting sounds (indicate shortness of breath) and their nails, skin, and fingernails may turn blue due to low blood oxygen levels. 

Asymmetry or Bulging on one Side of the Chest

The side of the chest with the hernia might look bigger or stick out more if the organs from the belly are pushing up into it. Also, because the lung on that side didn’t grow properly, it might look flatter or caved in.

Poor Feeding and Weak Cry

A newborn with CDH might have trouble feeding or may cry very softly because their lungs aren't working properly or they feel uncomfortable. They might throw up if their stomach is displaced into the stomach. 

Cardiovascular Instability

Babies born with CDH have smaller lungs that are unable to take in adequate oxygen. They have fewer alveoli and blood vessels, which results in poor gas exchange and high pulmonary vascular resistance (tells us how hard the right side of the heart has to work to pump blood through the lungs). Increased pulmonary vascular resistance causes a condition called persistent pulmonary hypertension of the newborn (PPHN), where the blood pressure in the pulmonary arteries is too high.

Early detection of CDH allows healthcare providers to plan appropriate interventions that prevent complications. Doctors often perform a clinical examination after a baby is born (to identify signs of CDH) and use the following clinical examinations to check the position of the abdominal organs.

Ultrasound

CDH can often be detected during routine prenatal ultrasounds, typically from 18-22 weeks of gestation. An ultrasound can help doctors check the position of fetal organs, such as the stomach and intestines to determine if they are displaced. 

Fetal MRI 

MRI generates detailed pictures of soft tissues, allowing clear visualization of the diaphragm, abdominal organs, and lungs of the fetus. The imaging technique helps doctors check whether the liver, stomach, intestines or any other parts of the abdomen have herniated into the thoracic cavity. 

Genetic Testing

In some cases, CDH is associated with a genetic or chromosomal abnormality. Genetic testing can help identify chromosomal anomalies (such as trisomy 18, trisomy 21, and trisomy 13) associated with CDH. Doctors also use genetic testing to diagnose single gene mutations that can contribute to the development of CDH.

Fetal Echocardiogram

While its primary purpose is to evaluate the structure and function of the fetal heart, a fetal echocardiogram can indirectly help diagnose or support the diagnosis of CDH by allowing doctors to check the position of the heart which may have been pushed by abdominal organs to the opposite side of the chest.

CDH treatment often begins immediately after birth (sometimes before birth). The treatment approach depends on the severity of the condition and the overall health of the newborn. Here are some CDH treatment options. 

Fetal Endoscopic Tracheal Occlusion 

Performed between 27 and 29 weeks of gestation (in severe cases), FETO involves placing a balloon using a thin endoscope (passed through the mother's abdomen and uterus) in the fetus’s heart. The balloon traps lung fluid inside the lungs, preventing it from draining into the amniotic fluid (the fluid that protects the fetus). As the fluid accumulates, lung tissue grows. The balloon is removed a few weeks later before delivery or immediately after birth.

Stabilisation and Surgical Repair 

Babies born with CDH often experience breathing problems and are provided respiratory support immediately after birth. Extracorporeal membrane oxygenation (a type of artificial life support) is used in severe cases. Medications are administered to the newborn to manage pulmonary hypertension and a nasogastric tube is placed in the stomach to decompress it.

Once the infant stabilises, small defects in the diaphragm are closed with sutures, while larger defects may require a synthetic patch or a biologic graft. Surgery may be delayed until the baby is hemodynamically stable.

Congenital Diaphragmatic Hernia (CDH) can lead to a variety of complications that may affect a baby’s long-term health and development. These complications can arise from both the hernia itself and the challenges associated with treatment and recovery. Below are some of the most common complications associated with CDH:

Respiratory Issues

Because the hernia causes the abdominal organs to move into the chest cavity, it restricts lung growth and function. This can lead to:

• Chronic Lung Disease: Inadequate lung development may result in chronic respiratory problems, requiring long-term oxygen therapy or mechanical ventilation.
• Pulmonary Hypertension: Increased blood pressure in the lungs due to impaired lung function can cause significant heart strain.

Gastrointestinal Complications

The displacement of abdominal organs can lead to difficulties with digestion, including:

• Feeding Problems: Babies may have trouble feeding, leading to poor weight gain and nutritional deficiencies.
• Gastroesophageal Reflux (GERD): The hernia can disrupt normal digestive processes, leading to reflux, which may cause discomfort or aspiration issues.

Neurodevelopmental Delays

The stress of CDH on the body, combined with prolonged hospitalisation and surgeries, can contribute to:

• Delayed Motor Skills: Babies may take longer to develop motor skills, such as rolling over or crawling.
• Cognitive Development Issues: In some cases, CDH can be associated with delays in speech, language, and overall cognitive function.

Musculoskeletal Disorders

Musculoskeletal complications may arise due to the abnormal position of organs and the effects of prolonged ventilation or bed rest:

• Muscle Weakness: Extended time in the neonatal intensive care unit (NICU) may result in muscle weakness or contractures.
• Skeletal Abnormalities: Some babies may experience skeletal deformities, particularly in the chest or rib cage, due to the pressure from displaced organs.

Psychological Impact on Families

A CDH diagnosis can be overwhelming for families, potentially leading to emotional and psychological challenges, including:

• Parental Stress and Anxiety: The uncertainty of the baby’s condition and the need for ongoing medical care can cause significant emotional strain.
• Long-Term Family Support Needs: Families may require long-term psychological or social support to manage the challenges of caring for a child with CDH.

Despite these potential complications, with early diagnosis, expert care, and timely treatment, many babies with CDH can lead healthy, fulfilling lives.

Though CDH cannot always be prevented, pregnant women can follow these tips to reduce the risk of their baby in the womb developing CDH. 

Realise the Importance of Preconception and Prenatal Care

Folic acid supplements can help prevent neural tube and other birth defects. Diabetes and hypertension can increase the risk of the fetus developing CDH. Blood tests and clinical examinations can help doctors monitor pregnant women’s health and diagnose gestational diabetes and hypertension in the first few months of pregnancy before it could lead to CDH. 

Maintain a Healthy Lifestyle 

Tobacco use is linked to an increased risk of birth defects. Pregnant women should steer clear of tobacco products and also avoid alcohol as it can affect fetal development. They must eat a healthy, balanced diet comprising nutrient-dense foods that promote fetal development. 

Avoid Exposure to Harmful Chemicals

Gene expression is the process by which the instructions in a gene are used to create a protein or RNA.Some chemicals can interfere with the expression of genes that are critical for diaphragm and lung development. Pregnant women should steer clear of pesticides and household cleaners containing such chemicals. 

Prevent Infections

Toxoplasmosis (a parasitic infection) and infectious diseases caused by cytomegalovirus and may impact fetal development. To prevent infections, pregnant women should avoid raw or uncooked food, cook meat thoroughly, and wash fruits and vegetables thoroughly before consuming them. 

Take Medications as Directed by a Healthcare Professional

In some cases, retinoids, corticosteroids, and anticonvulsants can increase a baby’s risk of developing CDH. Pregnant women should consult their doctor before taking medications and must use them as directed by the professional.

Can a child with CDH have a normal life expectancy?

With appropriate medical care and surgery, many children with CDH can lead normal or near-normal life expectancies. The key factors are early diagnosis, the severity of the condition, and the effectiveness of the treatment.

How soon after birth is surgery typically performed?

Surgery to repair the diaphragm is generally performed within the first 24 to 48 hours after birth, depending on the baby's stability. The timing is carefully decided based on the baby’s condition, including lung function and overall health.

Can CDH be diagnosed in older children?

CDH is typically diagnosed at birth or prenatally. However, in rare cases, mild forms of CDH might go undiagnosed until later in life when symptoms such as breathing difficulties or digestive issues arise.

How does CDH affect feeding and nutrition?

Babies with CDH often experience difficulty feeding due to respiratory distress or gastrointestinal complications. A feeding tube may be required initially to provide proper nutrition while the baby is recovering from surgery.

Can CDH affect the baby’s growth and development?

While many babies with CDH go on to have normal growth and development, some may experience delays, particularly in motor skills and cognitive function, due to complications like chronic lung disease or extended hospitalisation.

How long do babies with CDH need to stay in the NICU?

The length of stay in the NICU varies depending on the severity of the CDH and the baby’s recovery. It could range from a few weeks to several months, depending on how well the baby’s lungs and overall health stabilise after surgery.

What role does prenatal care play in managing CDH?

Prenatal care is essential in managing CDH, as early detection via ultrasound can help plan for immediate post-birth care and surgery. It allows healthcare providers to prepare for any necessary interventions and ensure a more coordinated approach to delivery and treatment.

What are the chances of long-term lung issues for babies with CDH?

Many babies with CDH experience some form of lung dysfunction, such as chronic lung disease or pulmonary hypertension. However, with timely and appropriate care, including respiratory support and ongoing monitoring, many babies see significant improvement in lung function over time.

Is genetic testing recommended for CDH?

Genetic testing may be recommended in cases where CDH is suspected to have a genetic component, especially in cases of recurrent CDH or if other congenital abnormalities are present. It helps to understand the underlying cause and plan for future pregnancies.

What long-term care is required for a child with CDH?

Long-term care may involve regular check-ups to monitor lung function, growth, and development. Children may need ongoing support with respiratory care, feeding therapy, and developmental assessments, especially if there were complications during the early stages of life.

Are there any lifestyle restrictions for a child who has had CDH surgery?

Once a child with CDH has recovered from surgery and is doing well, there are generally no specific lifestyle restrictions. However, some children may require additional care for lung or digestive issues. Activities should be discussed with the child’s healthcare team.

Is there a risk of developmental issues later in life for children with CDH?

Some children with CDH may experience developmental delays, particularly in areas such as speech, motor skills, and learning. Early intervention and ongoing developmental support can help mitigate these risks and support the child’s progress.

How will CDH affect my child's ability to learn and attend school?

Most children with repaired CDH can attend school. However, some may require additional support due to potential developmental delays or ongoing medical needs. Close communication between parents, educators, and the medical team is essential.

Are there any restrictions on air travel for children with CDH?

Air travel is often possible, but it depends on your child's respiratory status. Discuss travel plans with your child's pulmonologist, who may recommend specific precautions or assessments before flying.

If we plan to have more children, is there a higher risk of CDH in future pregnancies? 

While CDH is often sporadic, there can be a slightly increased risk in subsequent pregnancies, particularly if there is a family history. Genetic counseling can help assess your individual risk.

How often will my child need to see specialists after being discharged from the hospital?

The frequency of specialist visits will gradually decrease over time, but regular follow-up with pulmonologists, surgeons, and other relevant specialists will be necessary, especially in the first few years of life.

Will my child require any special equipment or home care after discharge? 

Depending on your child's needs, they may require equipment such as oxygen tanks, feeding pumps, or monitors at home. The medical team will provide thorough training and support for managing this equipment.

Will my child have any long-term breathing problems after CDH repair?

While surgery corrects the hernia, some children may experience ongoing respiratory issues, such as reactive airway disease, exercise intolerance, or the need for supplemental oxygen, especially if lung development was significantly affected. Long-term management strategies are put in place to optimize their respiratory health.

Reviewed By Dr. Atul Wadhwa, Principal Consultant - General Surgery, Bariatric Surgery / Metabolic, Department of General Surgery and Robotics, on 01 July 2025.