Congenital Diaphragmatic Hernia (Cdh)

A rare birth defect called congenital diaphragmatic hernia (CDH) happens when a baby's diaphragm doesn't fully close before birth. The diaphragm is the muscle that separates the chest from the belly. When it doesn't close completely, there's a gap, or hole, in the diaphragm. This hole is the hernia.

Because of this opening, organs from the belly, such as the intestines, stomach, liver, and others, can slip through the hole into the chest cavity. This is a problem because the intestines in the chest cavity don't form their normal connections in the abdomen. This can cause the intestines to twist on themselves (a condition called volvulus), cutting off their blood supply. This can be very dangerous.

Doctors decide how to treat CDH based on several factors. These include when the condition is discovered, how severe it is, and if there are any related heart problems.

Congenital diaphragmatic hernia (CDH) is a birth defect where a part of the baby's diaphragm, a muscle separating the chest and abdomen, doesn't develop properly. This can cause a hole, allowing organs from the belly to move into the chest cavity. The severity of CDH varies widely.

In some cases, the hole is small and the baby may have few or no noticeable problems. However, in more serious cases, the misplaced organs can significantly affect the baby's health.

Babies with CDH might experience:

• Breathing difficulties: The lungs may not develop fully (pulmonary hypoplasia), making breathing very hard. This is because the lungs need space to grow properly, and the presence of abdominal organs in the chest can restrict that space.
• Heart problems: The heart's development can be affected by the pressure and crowding within the chest cavity.
• Organ damage: Organs like the intestines, stomach, liver, and others can be damaged if they move into the chest. This damage can happen due to the organs being compressed or twisted out of place. The organs may also become inflamed or infected.

In short, CDH can impact a baby's ability to breathe, the normal development of their organs, especially the heart and lungs, and can cause damage to the digestive and other internal organs.

A condition called congenital diaphragmatic hernia (CDH) can sometimes be detected during a standard ultrasound scan of a developing baby. If CDH is found, your doctor can talk to you about different treatment possibilities.

Congenital diaphragmatic hernia (CDH) is a birth defect where a part of the baby's diaphragm, a muscle that helps with breathing, doesn't develop properly. This often leads to a hole in the diaphragm, allowing some of the organs in the belly to move into the chest cavity.

Doctors don't know the exact cause in many cases. However, sometimes CDH is connected to a genetic problem or random changes in a baby's genes (called mutations). When this happens, the baby might have other problems at birth, besides the hernia, such as issues with their heart, eyes, arms, legs, or organs like the stomach and intestines. These additional problems can vary in severity.

Congenital diaphragmatic hernia (CDH) can cause various health issues. Babies born with CDH might experience problems with their:

• Lungs: CDH often leads to lung problems because the diaphragm, a muscle separating the chest and abdomen, isn't fully developed or in the right position. This can make it hard for the lungs to grow and function properly.

• Digestive system (stomach, intestines, and liver): The misplaced diaphragm can press on or affect the development of the stomach, intestines, and liver. This can cause digestive problems like difficulty feeding, and potential complications later in life.

• Heart: In some cases, CDH can affect the development of the heart.

• Frequent infections: A weakened immune system or difficulties with breathing can make babies with CDH more susceptible to infections.

• Hearing: Some babies with CDH may experience hearing loss.

• Body shape: The position of the diaphragm can impact the shape of the chest and the curve of the spine.

• Acid reflux (Gastroesophageal reflux): Stomach acid can sometimes flow back up into the esophagus, the tube that connects the mouth to the stomach. This can cause discomfort and other digestive issues.

• Growth and weight: Problems with feeding, digestion, or other complications can affect a child's ability to gain weight and grow normally.

• Development and learning: CDH can sometimes lead to developmental delays or learning disabilities.

• Other birth defects: CDH can sometimes be linked to other medical issues present at birth.

It's important to remember that not all babies with CDH will experience every single problem listed. The severity of these complications can also vary. Doctors will carefully monitor and manage any issues that arise in a child with CDH.

Congenital diaphragmatic hernia (CDH) is a birth defect where a part of the baby's stomach or intestines pushes into the chest cavity. This often happens during pregnancy, usually picked up during a routine ultrasound scan.

Ultrasound scans use sound waves to create pictures of the baby inside the womb. Doctors use these pictures to check the baby's development and look for any problems. Sometimes, CDH isn't discovered until after the baby is born. This might be because the problem is mild, or there aren't any noticeable signs. In rare cases, it might not be diagnosed until later in childhood.

During pregnancy, your doctor uses ultrasounds and other tests to monitor the baby's growth and how well their organs are working.

A first ultrasound, typically in the first trimester, confirms the pregnancy and shows how many babies are present and their size. A second ultrasound, often in the second trimester, is used to check for proper development of the baby's organs, including the lungs and heart. The size and position of these organs are key parts of this check-up.

If the ultrasound shows signs of CDH, your doctor might order more frequent ultrasounds. These additional scans help determine how severe the condition is and if it's getting worse. More tests might be needed to get a better understanding of the baby's condition.

These additional tests can include:

• Fetal MRI (magnetic resonance imaging): This uses a strong magnetic field and radio waves to create detailed pictures of the baby's organs and tissues, helping to precisely identify the extent of the hernia.

• Fetal echocardiogram: This uses sound waves to create images of the baby's heart. It can detect any problems with the heart's structure or function.

• Genetic tests: These tests look for genetic conditions that might be linked to CDH. A genetic counselor can explain the results and discuss the implications for the baby.

These tests help doctors understand the extent of the problem and create a plan to best support the baby's health both during and after birth.

Congenital Diaphragmatic Hernia (CDH) Treatment: A Guide

Congenital diaphragmatic hernia (CDH) is a birth defect where a hole in the diaphragm allows the stomach and other organs to move into the chest cavity. Treatment for CDH depends on how severe the condition is and when it's discovered. Your medical team will work closely with you to determine the best course of action.

Prenatal Monitoring:

Before your baby is born, your healthcare team will closely monitor their health and development. This often involves ultrasounds and other tests.

Fetoscopic Endoluminal Tracheal Occlusion (FETO):

A new treatment option for severe CDH is fetoscopic endoluminal tracheal occlusion (FETO). This procedure is performed on the baby while the mother is still pregnant. The goal is to help the baby's lungs grow as much as possible before birth.

FETO involves two steps:

1. First Procedure (Early Third Trimester): A small incision is made in the mother's abdomen and uterus. A thin, flexible tube with a camera (fetal endoscope) is guided through the baby's mouth and into the windpipe (trachea). A small balloon is placed and inflated in the trachea. This keeps amniotic fluid (the fluid surrounding the baby) in the baby's lungs, helping them expand and develop.

2. Second Procedure (4-6 Weeks Later): The balloon is removed, allowing the baby's lungs to be ready for breathing after birth. If labor starts before the balloon can be removed, a special delivery method called ex utero intrapartum treatment (EXIT) might be necessary. In this procedure, the baby is delivered by C-section, but the baby continues to receive oxygen through the placenta until the balloon is removed and a breathing tube is placed to help them breathe.

Important Considerations:

FETO might not be suitable for all cases, and there's no guarantee of success. Your healthcare team will assess whether FETO is right for you and your baby, discussing the potential benefits and risks.

Delivery and Post-Birth Care:

Most deliveries can be vaginal or by C-section, depending on your individual circumstances and your doctor's recommendation. After birth, your baby will likely need care in the newborn intensive care unit (NICU).

Potential Needs After Birth:

• Breathing Support: Your baby might need a breathing tube connected to a machine to help them breathe.
• Extracorporeal Membrane Oxygenation (ECMO): Babies with serious lung problems may need ECMO (also called extracorporeal life support). This machine helps the baby's heart and lungs rest and heal. The length of time a baby needs ECMO depends on their response to treatment.
• Surgery: Most babies with CDH will need surgery to close the hole in the diaphragm. The timing of this surgery depends on the baby's health.
• Follow-up Care: Regular follow-up appointments and X-rays are crucial to ensure the repair remains effective.
• Additional Support: After leaving the hospital, your baby might require supplemental oxygen, feeding support, or medicine for related conditions like acid reflux or high blood pressure in the lungs (pulmonary hypertension).

Emotional Support:

Receiving the news that your baby has CDH can be overwhelming. There are resources available to support you throughout this process. Don't hesitate to talk to your healthcare team about any questions or concerns.