min. read
Topics
Congenital diaphragmatic hernia (CDH) is a hole or opening in the baby’s diaphragm, the muscle that separates the abdomen from the chest. This defect allows the abdominal organs, such as the stomach, intestine, liver and spleen, to move up into the chest cavity. These other organs crowd the baby’s lungs and prevent them from growing and developing properly.
How does it affect my baby?
Without adequate space to grow, the baby’s lungs are often small and underdeveloped, causing breathing problems at birth.
CDH can also lead to abnormal development of the blood vessels in the lungs, making it difficult to get oxygen to the lungs. Reduced blood flood causes high blood pressure in the lungs, known as pulmonary hypertension.
Babies born with CDH may have additional conditions caused when other organs fail to develop properly, including the heart, brain, kidneys and intestines.
CDH can range in severity from mild to life-threatening, depending on the baby’s defect and other conditions present.
Cause and Prevalence
Congenital diaphragmatic hernia is a rare birth defect, developing in approximately one in 2,500 to 5,000 babies. In most cases, the cause is unknown.
The condition occurs when the diaphragm muscle doesn’t form properly as the fetus develops, allowing the abdominal organs to push through.
CDH commonly occurs on the baby’s left side, but it can occur on the right side or bilaterally (on both sides).
Testing and Diagnosis
Congenital diaphragmatic hernia is typically detected during a routine ultrasound in the second trimester of pregnancy. The fetal ultrasound may show the baby’s abdominal organs in the chest cavity, or an increased amount of amniotic fluid, which can be caused by fetal lung abnormalities.
In some cases, CDH is not detected until after birth.
If CDH is diagnosed during pregnancy, you may be referred to a fetal center for a comprehensive evaluation and specialized care.
At Texas Children’s Fetal Center, we arrange for you to visit as quickly as possible to meet with a team of specialists experienced in treating CDH, including maternal-fetal medicine physicians, surgeons, neonatologists, genetic counselors, and fetal imaging experts.
You will undergo a full day of consultations and testing to help us gain more information about your baby’s defect and identify any associated conditions.
Testing may include:
- Anatomy ultrasound to confirm the CDH diagnosis and evaluate the defect, including the side the hernia is on, lung size, and the presence of any other anomalies
- MRI to provide additional information about the severity of the condition, including the location of the liver, a key indicator
- Fetal echocardiogram to evaluate your baby’s heart and look for any associated heart defects
- Amniocentesis and chromosomal analysis to identify chromosomal anomalies
To assess the severity of the defect, our specialists use measurements obtained during your ultrasound and MRI, including:
- Fetal lung-to-head ratio (LHR)
- The position of the liver, whether it is up, meaning it has entered the chest, or down, meaning it has not moved into the chest
- Total fetal lung volume
At the end of the day, we will meet with you about your results and provide recommendations based on the needs of your baby, to help you make the most informed decisions regarding care and treatment.
Fetal Surgery for Severe Cases
For more severe cases of CDH, an experimental fetal surgery known as fetal endoscopic tracheal occlusion (FETO) may be an option to potentially improve lung growth before birth. Texas Children’s is one of the few fetal centers in the nation that offer FETO, performed by one of the most skilled and experienced teams of physicians in the use of this treatment.
Our fetal center is also one of the few programs in the country that has received permission from the U.S. Food and Drug Administration (FDA) for the moderate TOTAL (Tracheal Occlusion To Accelerate Lung Growth) trial, a pilot study of FETO for moderate cases of CDH.
During this minimally invasive procedure, a scope about the size of a straw is inserted through a small incision in the mother’s abdomen and into the uterus. Guided by a camera on the end of the scope, a small inflatable balloon is placed inside the fetal trachea, where it is then deployed to temporarily obstruct the airway.
Blocking the trachea enables fluid to accumulate in the fetal lungs, promoting their growth and development during the remainder of the pregnancy. The balloon is removed in a second minimally invasive procedure prior to birth, typically at about 34 weeks of pregnancy.
After delivery, when the baby is stabilized, surgery can be performed to close the hole in the diaphragm.
Because the FETO procedure temporarily blocks the baby’s airway, unexpected delivery can be life-threatening. The mother must remain near the fetal center for close monitoring and follow-up throughout the pregnancy, with immediate access to specialized care in case of preterm delivery. At Texas Children’s, our FETO team is on standby 24/7 should the mother need us.
Treatment During Pregnancy
If CDH is diagnosed, you and your baby will be closely monitored throughout your pregnancy, with regular ultrasounds to assess fetal growth and development.
Because the fetus is getting oxygen through the placenta during pregnancy, treatment to address breathing difficulties typically occurs after birth, when lung function becomes critical.
Delivery
Most women can proceed with a vaginal delivery, unless other medical reasons require a cesarean delivery.
Babies with CDH are at increased risk of respiratory problems and may require specialized treatment immediately upon delivery, including ECMO (extracorporeal membrane oxygenation), a heart-lung bypass machine that performs the work of the heart and lungs so the organs have time to rest or grow. Even those with good prognostic signs on prenatal imaging will need highly specialized care in an experienced neonatal intensive care unit (NICU).
We recommend all babies with CDH be delivered in a center capable of caring for the most critically ill newborns, avoiding the need for a potentially life-threatening transfer.
Delivery at a center like Texas Children’s Pavilion for Women provides for the best possible outcome, enabling mother and baby to receive expert care in one comprehensive location. With our level IV NICU and immediate access to pediatric surgical care after birth, we are well-equipped to manage a high-risk delivery and provide the specialized care required by these babies. Texas Children’s also offers small, family-centered classes to help families prepare for their newborn's hospitalization following delivery.
Delivery and postnatal care should be carefully planned and coordinated with a team of maternal-fetal medicine specialists, neonatologists, and pediatric surgeons highly experienced in working together to treat CDH.
Treatment after Birth
After your baby is born, a breathing tube is placed, as well as a tube through the mouth or nose into the stomach to decompress the intestines within the chest to allow for lung expansion. Until the hernia is surgically corrected, intravenous nutrition will also be needed.
Every baby with CDH is different. Although we closely monitor and try to gauge how severe the CDH is while they are in utero, the amount of support and treatment that will be needed at birth is uncertain.
At Texas Children’s, our specialized group of neonatologists and pediatric surgeons are well-versed in the treatment of newborns across the full spectrum of CDH, from medications to treat pulmonary hypertension, to high-frequency oscillatory ventilators, to extracorporeal membrane oxygenation (ECMO).
Surgical Repair After Birth
The timing of surgery to repair the hernia after birth, and the length of hospital stay, depends on the severity of your baby’s CDH and the amount of support needed. Typically surgery is performed within the first week of life after your baby has stabilized from the birthing process, either on a ventilator or on ECMO.
During the procedure, an incision is made just below the rib cage. The intestines and other abdominal organs are removed from the chest cavity and placed back in the baby’s abdomen. The hole in the diaphragm is then closed with stitches. In cases where the hole is very large, a prosthetic mesh patch is used to help close the defect.
After the repair, a chest tube and sometimes a drain are left to allow excess fluid to flow out of the baby’s chest and help the lungs expand.
Following surgery to close the hole, your baby’s lungs will take time to recover. It may be weeks or months before your infant is able to go home. Other treatments such as IV nutrition and antibiotics are often used to support your baby in the meantime.
Long-Term Follow-Up Care and Outcomes
Long-term follow up is a critical component of care for babies with CDH, as many children often have long-term health issues. These issues depend on the severity of the defect and any related problems.
At Texas Children’s, our core group of pediatric surgeons, pulmonary (lung) specialists and dedicated practice providers follow your baby through the years as they continue to grow.
Our team works closely with your family to assess your baby’s changing needs and monitor the child for long-term health issues, including:
- Lung problems. Issues include the inability to wean off the ventilator, a continuing need for oxygen support, chronic lung disease, asthma, and persistent pulmonary hypertension (high blood pressure in the lungs).
- Feeding difficulties. Many babies with CDH need a feeding tube placed in their nose or stomach to get adequate nutrition. Even with a feeding tube, some babies have difficulty gaining weight, especially in the first year of life.
- Heartburn. Gastroesophageal reflux is common in babies with CDH. Heartburn is often treated with medicine, but some babies may need a separate operation to treat the reflux.
- Development. Other potential problems include hearing loss and developmental delays. Babies that require ECMO are at greatest risk for more serious neurological problems.
- Scoliosis. Some children develop scoliosis, an abnormal curvature of the spine.
Before your infant is discharged from our NICU, we will schedule your appointment at our multidisciplinary clinic, where all of your baby’s CDH care is coordinated in one location.
Texas Children’s CDH Outcomes Clinic and Complex CDH Clinic
Two clinics that provide comprehensive, multidisciplinary postnatal care for patients with CDH
Texas Children’s Hospital offers two postnatal follow-up clinics for patients with congenital diaphragmatic hernia, the CDH Outcomes Clinic and the Complex CDH clinic. Both clinics were founded by Dr. Nidhy Varghese and are led by Priya Patel, PA-C, with the Department of Pediatric Surgery and Elise Whalen, APRN, FNP-C, with the Department of Pediatric Pulmonary Medicine.
The CDH Outcomes Clinic launched in 2018 to provide routine follow-up care and monitor outcomes after surgery for stable CDH patients who do not need any supplemental oxygen or pulmonary medication. At each appointment, parents can expect their child to undergo follow up testing which may include growth measurement, chest x-ray, and pulmonary function testing. Results will be reviewed by pediatric surgery and pulmonary care teams for evaluation of surgical outcomes, pulmonary function, nutrition, developmental pediatrics and more. Other topics reviewed are the current status of developmental milestones and neurological development. Patients under the age of 1 are typically seen every 3 months. Patients 1-2 years old are seen every 6 months. Patients who are 3-18 years old are seen annually. However, this schedule can vary based on each patient and their needs. Parents can discuss any questions or concerns they have regarding continued prognosis for their child with congenital diaphragmatic hernia.
The Complex CDH Clinic opened in April 2019 to extend multidisciplinary care to CDH patients who require additional oxygen supplementation, chronic ventilator support or pulmonary hypertension medications. These patients are more complex, with more postnatal complications and require closer follow-up care and support. Similar to CDH Outcomes Clinic, parents can expect testing to include measurement of growth, chest X-ray and pulmonary function testing. Bloodwork, echocardiography and a six minute walk test may also be performed. In addition to pulmonologists who are specialized in pediatric pulmonary hypertension and management of tracheostomy/ventilator-dependent children, the clinic is staffed by members of Pediatric Surgery and respiratory therapists.
For more information about Texas Children’s Hospital’s congenital diaphragmatic hernia programs, please call the following numbers:
- CDH Complex Clinic 832-822-3696
- CDH Outcomes Clinic 832-822-3135
Why Texas Children’s Fetal Center?
- A single location for expert maternal, fetal and pediatric care. At Texas Children’s Hospital, you and your baby can get the specialized care you need for the treatment of CDH all in one location, avoiding the need to transport a critically ill newborn and providing you immediate, easy access to your baby in our renowned neonatal intensive care unit (NICU).
- A skilled, experienced team with proven CDH outcomes. We have a dedicated team of maternal-fetal medicine specialists, surgeons, neonatologists, ECMO specialists, pulmonologists, cardiologists, gastroenterologists and other specialists who work in concert to care for you and your baby every step of the way, using protocols we’ve developed over the years that result in excellent, published outcomes. With their combined expertise and unified approach, these leading physicians offer the best possible care for babies with CDH.
- We care for your child’s CDH needs at every stage of life. Our comprehensive approach starts with your first prenatal visit for CDH and continues throughout your child’s delivery, postnatal care, and into adolescence, thanks to one the nation’s leading teams of specialists for the treatment of CDH.
Postnatal Care
Patient Stories
Glenn Family Finds Hope Far From Home
During a sonogram at 15 weeks, Jeanie and Shaun Glenn of Seward, Alaska, found out their baby’s heart was off center. Additional tests eventually revealed congenital diaphragmatic hernia (CDH) with the liver, spleen, stomach and a portion of intestines all squeezed above the diaphragm into the chest cavity.
Groundbreaking Procedure for Severe CDH
When Jenny and Tawa Torry lost their first child to birth defects caused by congenital diaphragmatic hernia (CDH), they never dreamed they’d have to face the same heartbreaking possibility again.
One Team, One Miracle, One Daughter
Like so many expecting parents, Amy and Joe Krese went into their 20-week ultrasound with a mix of excitement and apprehension. They were overjoyed to find they were having a girl but also learned their daughter had a bilateral CDH.
CDH: Three letters that changed our lives
After the long weekend, we had an ultrasound at a maternal-fetal medicine clinic in Grand Rapids, Mich.; the diagnosis was confirmed. Right-sided CDH, the rarer and more severe side.
Volumes & Outcomes
Research and Clinical Trials
Texas Children’s Fetal Center®, in collaboration with Baylor College of Medicine, is the first center in the United States to participate in the Moderate TOTAL trial.
You can also learn about these CDH clinical trials at ClinicalTrials.gov:
CDH In the News
- Congenital Diaphragmatic Hernia: James’ story
- Fetal Intervention Corrected My Daughter’s Congenital Diaphragmatic Hernia (CDH) Before Birth
- 18 Months Later: How My Daughter is Overcoming Congenital Diaphragmatic Hernia
- Surviving C47: Our Family’s Journey With Congenital Diaphragmatic Hernia (CDH)
- 7-Year-Old Girl And Mom Share Experience With Congenital Diaphragmatic Hernia (CDH)
Videos
- Texas Children’s Fetal Center® Moderate TOTAL Trial
- Fetal Endoscopic Tracheal Occlusion (FETO) Educational Video
- Texas Children's Experimental In-Utero Procedure for Congenital Diaphragmatic Hernia
- Lydia’s Story: FETO procedure for bilateral Congenital Diaphragmatic Hernia (Podcast)
Additional Resources
For more information or to schedule an appointment,
call Texas Children’s Fetal Center at 832-822-2229 or 1-877-FetalRx (338-2579) toll-free.
Our phones are answered 24/7. Immediate appointments are often available.
25201
Conditions
article