Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia (CDH) Treatment | Johns Hopkins Center for Fetal Therapy

Congenital Diaphragmatic Hernia | Johns Hopkins Medicine

Congenital diaphragmatic hernia (CDH) is a rare birth defect in which a hole in the diaphragm allows the intestines, stomach, liver and other abdominal organs to enter the chest, impairing normal lung development.

A fetus with congenital diaphragmatic hernia. Click to enlarge.

CDH Treatment: Why Choose Johns Hopkins

  • We understand the urgency of a CDH diagnosis. The Center for Fetal Therapy is available to take your call at any time and will see you as soon as possible.
  • Our fetal surgeons are leading experts in fetoscopic endotracheal occlusion (FETO) surgeries in the U.S. This minimally invasive prenatal procedure can improve breathing in babies with severe CDH.
  • Babies treated for CDH at our center benefit from close to full-term births. Throughout the entire pregnancy, we continuously monitor your progress to prevent complications and ensure the best outcome for both you and your baby.
  • Our team developed standardized, holistic CDH treatment guidelines  our extensive research and experience managing CDH. This protocol keeps our multidisciplinary teams aligned and helps us anticipate any potential complications throughout your care. 
  • Your child will receive coordinated, long-term care from Johns Hopkins' many advanced care specialties. Our experts in fetal surgery, neonatology, pediatrics and anesthesiology will counsel you on your treatment options and support your family from diagnosis through delivery and childhood care. 

Request an appointment phone 410-502-6561

Patient Story: FETO Treatment for CDH

Fetoscopic Treatment for Congenital Diaphragmatic Hernia (CDH) | Natika's Story

Natika’s baby was diagnosed with a left side congenital diaphragmatic hernia (CDH). The Johns Hopkins Center for Fetal Therapy team performed life-saving fetoscopic endotracheal occlusion in utero. Watch how the Johns Hopkins Hospital team ushered baby William to health from diagnosis and surgery to birth and after care.

This illustration shows how CDH is diagnosed through ultrasound measurements. Click to enlarge.

CDH Treatment: What to Expect

During your first appointment, you will meet with our multispecialty team who will perform a detailed evaluation to determine the condition's severity. Diagnostic procedures may include:

  • Fetal ultrasound
  • Fetal echocardiogram
  • Genetic counseling
  • MRI

Following your initial consultation, we will review with you the test results and your treatment options. Then, we will work together to develop a care plan that works best for you and your baby. If you choose fetal surgery, our experts will perform fetoscopic endotracheal occlusion (FETO). The goal of this procedure is to support lung development throughout the pregnancy.  

After fetal surgery, we will continue to monitor your pregnancy closely. We will coordinate your delivery at Johns Hopkins with our pediatric and neonatology teams, which will be ready to provide any treatments, including extracorporeal membrane oxygenation (ECMO), that are needed to ensure safety and quality of life for your baby at birth.

After birth, our pediatric surgical team will perform early surgical repair using the most advanced approaches. Following surgery, our pediatric team will work with you to develop a long-term care management plan. 

Congenital Diaphragmatic Hernia (CDH) | Q&A

Jena Miller, M.D., discusses congenital diaphragmatic hernia treatment and care provided by the Johns Hopkins Center for Fetal Therapy. She discusses how CDH is diagnosed, options for treatment and follow-up.

Our CDH Specialists

Drs. Rosner, Baschat and Miller of the Johns Hopkins Center for Fetal Therapy.

Our multidisciplinary team includes fetal medicine specialists and surgeons, neonatologists, pediatric surgeons, nurses, genetic counselors and social workers who work together to ensure your child receives the full spectrum of CDH care and has the best quality of life possible.

Fetal Medicine and Surgery

Ahmet Baschat M.D.
Jena Miller M.D.
Mara Rosner M.D., M.P.H.

Pediatric Surgery

Eric Jelin M.D.
Shaun Michael Kunisaki, M.D., M.Sc.

Neonatologists

Lawrence Nogee M.D.
Amaris Keiser M.D.

Johns Hopkins experts have been at the forefront of research into the benefits of fetoscopic tracheal occlusion (FETO) balloon surgery, an experimental technique used to improve lung function in babies with severe CDH. Our research includes:

Source: https://www.hopkinsmedicine.org/gynecology_obstetrics/specialty_areas/fetal_therapy/conditions-we-treat/congenital_diaphragmatic_hernia.html

Johns Hopkins All Children’s opens first-of-a-kind unit for babies with CDH birth defect

Congenital Diaphragmatic Hernia | Johns Hopkins Medicine

In just three years, Johns Hopkins All Children’s Hospital has tripled the number of babies it treats born with congenital diaphragmatic hernia – a hole in their diaphragm, a life-threatening birth defect.

The St. Petersburg pediatric hospital treated 50 children with congenital diaphragmatic hernia in the third year of its CDH program, up from 16 to 18 patients treated in the first year, said Dr. David Kays, medical director of the program.

About half the patients are from families in Florida, and about half travel from around the United States to St. Petersburg for treatment.

Dr. David Kays, medical director, Johns Hopkins All Children’s Hospital CDH program

Now, the hospital has a dedicated Center for Congenital Diaphragmatic Hernia, a 15-bed unit that is believed to be the nation’s first inpatient unit dedicated to the treatment of infants and children with condition, said Thomas Kmetz, president of Johns Hopkins All Children’s Hospital.

The center is staffed by an interdisciplinary team and led by Kays, who was recruited to All Children’s in early 2016 from University of Florida. At UF, he treated 321 children over 23 years – about 15 children a year, Kays said at a dedication ceremony Thursday for the new center at All Children’s.

“I came here to build what I thought would be the world’s best program in congenital diaphragmatic hernia,” Kays said. “There was a trajectory to this children’s hospital that was perfect for this program.

I couldn’t take this program to Boston Children’s or Children’s Hospital in Philadelphia. There were too many egos to accept me to come in and change the paradigm. But this place was just right.

It had the same vision to be a great children’s hospital the way I wanted to build a great program.”

Continuum of care

About one in 3,000 pregnancies involves a child with CDH, which allows organs such as the intestines, stomach and liver to move into an infant’s chest cavity, threatening lung development. Many women have been advised to terminate their pregnancy when the condition is diagnosed before birth, usually around the 20-week ultrasound.

Surgical repair immediately after birth allows the lungs to grow and mature. Nationwide, the survival rate is 65 percent to 70 percent. At All Children’s the survival rates are over 90 percent, Kays said.

But treatment involves more than surgery, he said.

“People don’t come here for an operation. They come for the whole continuum of care, the whole concept from beginning to end,” Kays said. “The challenge is to keep babies alive who have critically small lungs and that requires a great team of people to have tremendous continuity of care.”

In addition to surgery and in-patient treatment, parents are taught to care for their children once they leave the hospital and return home, said Dr.

Jennifer Arnold, a neonatologist and medical director of the hospital’s simulation center.

The parents are put through a series of four emergency scenarios, so they can figure out the nature of a potential problem, how to manage it and when to call 911 if needed.

Dr. Jennifer Arnold, medical director, Johns Hopkins All Children’s Hospital simulation center

Dream job

Dr. Stacey Stone, neonatologist, Johns Hopkins All Children’s Hospital

All Children’s CDH outcomes are truly better than anywhere else in the world, said Dr. Stacey Stone, a neonatologist who works in the CDH unit.

“Our babies are not just going home surviving, but they are going home well,” Stone said.

Joy Perkins has worked with Kays for many years, starting at UF, and she is is coordinator for the program at All Children’s.

Dr. Paul Danielson, interim chair, department of surgery, Johns Hopkins All Children’s Hospital

“Being able to bring all of that here and build the program we always wanted to build has been amazing,” Perkins said. “This is dream job. We take care of families every day that are told their children are going to die, and we send them home, and they are doing fantastic.”

Kays has a reputation in the pediatric surgical world as a bit of a renegade, “a hard-driving guy with outcomes so great that some people don’t even believe it,” said Dr. Paul Danielson, interim chair of the hospital’s department of surgery.

Danielson describes Kays as a revolutionary, and the CDH unit as truly interdisciplinary.

“It’s not multi-disciplinary, where different specialties come and work together. It’s where different disciplines come together and create their own new discipline,” Danielson said

Source: https://stpetecatalyst.com/johns-hopkins-all-childrens-opens-first-of-a-kind-unit-for-babies-with-cdh-birth-defect/

Fetal balloon treatment for lung-damaging birth defect works best when fetal and maternal care are highly coordinated

Congenital Diaphragmatic Hernia | Johns Hopkins Medicine

Researchers from The Johns Hopkins Center for Fetal Therapy report new evidence that fetuses with severe congenital diaphragmatic hernia (CDH), a rare but life-threatening, lung-damaging condition, experience a significantly high rate of success for the fetal treatment known as FETO, if they and their mothers receive coordinated and highly experienced care in the same expert setting.

A report on the findings was published online, on Feb. 6, in the journal Obstetrics & Gynecology.

FETO — fetoscopic tracheal balloon occlusion — is a minimally invasive procedure in which a fetoscope is inserted through the abdominal wall into the uterus and then into the mouth of the fetus to place an inflatable balloon, to temporarily block the fetal trachea. The blockage allows lung fluids to build up behind the balloon, encouraging expansion of the airways and lung growth. The procedure improves the odds that fetuses with severe CDH acquire sufficient lung function after birth to lead a normal life.

“The primary cause of death in babies with CDH is that the lungs do not develop properly, and they cannot breathe outside the womb,” says Ahmet Baschat, M.D., director of The Johns Hopkins Center for Fetal Therapy and professor of gynecology and obstetrics at the Johns Hopkins University School of Medicine.

Usually detected through a routine prenatal ultrasound, CDH is a rare condition that impairs lung development, affecting one in 3,000 live births. It is characterized by the partial or complete absence of the diaphragm — the muscle that separates the chest from the abdomen — resulting in a hole.

The gap may permit organs that are usually in the abdomen, such as the bowel, the stomach and the liver, to push into the chest. This causes a hernia or bulge, a displacement that leaves too little space for fetal lungs to develop normally. The degree of lung damage is greatest for large hernias, where the liver herniates into the chest.

After birth, surgical closure of the hole is possible, but the lung damage that has occurred before birth can make this condition fatal.

To assess the feasibility and impact on the health of mothers and babies after FETO therapy, Johns Hopkins researchers enrolled 14 women, all patients at The Johns Hopkins Center for Fetal Therapy, between May 2015 and June 2019. The women were an average of 28 weeks pregnant and an average of 33 years old.

For the study, Baschat and his team performed successful FETO balloon blockages on all 14 fetuses between 26 and 29 weeks of gestation. No procedure-related fetal or maternal complications occurred. The team removed the balloons at about 33 weeks of gestation, after a median 34 days of blockage.

The researchers say that FETO therapy produced favorable outcomes in the 14 infants born to the mothers in the study when performed in a single center setting, where prenatal and postnatal monitoring and care were highly coordinated.

“This is most ly due to prenatal management by a team with experience in fetal interventions, as well as maternal-fetal care in one single institution,” says Baschat.

“From the time of balloon insertion, we had a multidisciplinary team of fetal therapists, neonatologists, pediatric surgeons, pediatric ENTs and obstetric and pediatric anesthesiologists available for any emergency balloon removals and to make sure the fetuses' airways weren't obstructed in case of unplanned birth.”

“FETO has been studied in the past, in the United States and abroad, in a randomized trial, a large feasibility study and several smaller studies, and while the overall approach was comparable to our study, we employed a deliberate strategy to minimize potential contributors to preterm birth associated with premature rupture of membranes,” adds Baschat. Some of these strategies included treating the mothers with vaginal progesterone, avoiding the lower part of the uterus when inserting the fetoscope and aggressive treatment of preterm contractions.

A striking difference in the Johns Hopkins study, Baschat notes, is that delivery of the babies was at an average of 37 weeks of gestation, with no deliveries prior to 32 weeks; 7% of deliveries before 34 weeks and 43% prior to 37 weeks of gestation. This allowed all the infants to be candidates for extracorporeal membrane oxygenation (ECMO) — an advanced life-support technique — which may have been an important contributor to the survival of the infants.

Overall, babies were born about 30 days after balloon removal. All cases experienced a sustained increase in lung size, from 23.2% before blockage to 46.6% prior to birth.

All 14 women delivered at The Johns Hopkins Hospital at a median gestational age of 39 weeks (range 33-39). Eight (57%) delivered at term (?37 weeks of gestation), after scheduled, induced labor.

The majority of mothers (71%) delivered their baby vaginally.

“We've been able to achieve a really good safety protocol — not only did the procedure result in lung expansion, but balloon removals were all scheduled; they were not emergency procedures,” says Baschat.

Infant survival on day 28 was 93%, and the overall survival to 6 months or hospital discharge was 86%.

All of the babies had absence of the diaphragm on the side of the hernia and required surgical repair of the CDH using a patch, which was performed within the first week of life. The primary complication after surgery in three of the 14 babies (36%) was recurrence of diaphragmatic herniation, due to areas of the patch detaching from the chest wall as the infants grew in size.

“The study had the highest survival rate ever reported for these types of patients, with the lowest complication rate of FETO in terms of procedure risks, obstetric risks and fetal risks,” says Baschat.

A randomized trial involving U.S. and European fetal therapy centers is underway; however, the researchers say they want to wait to see those results to decide on next steps. “Standardized prenatal and postnatal care appear to be complementary in achieving survival in these infants,” says Baschat.

“Anticipating possible obstetric complications and reactively providing prompt treatment may improve the chance for mothers to deliver at term.

” Meanwhile, the researchers are collaborating with other fetal therapy specialists to investigate how care-setting factors and management strategies can be optimized to apply them across other fetal therapy centers.

Story Source:

Materials provided by Johns Hopkins Medicine. Note: Content may be edited for style and length.

Source: https://www.sciencedaily.com/releases/2020/02/200219113738.htm

Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia | Johns Hopkins Medicine
Congenital Diaphragmatic Hernia FIND A TREATMENT CENTER NEAR YOU

​Congenital diaphragmatic hernia is a congenital birth defect caused by either a hole in the diaphragm or the absence of the diaphragm.

 Due to the absence of, or hole in, the diaphragm the organs (may include the stomach, spleen, intestines, and liver) located in the abdomen move into the chest area.  Those organs press again the lungs and prevent proper development of the lungs.

  Congenital diaphragmatic hernia is more common on the left side of the body. The cause of congenital diaphragmatic hernia is unknown.

Frequency

Congenital diaphragmatic hernia makes up approximately 8 percent of all major birth defects meaning it is seen in 1 in 3000 to 1 in 5000 live births per year.

Diagnosis

Congenital diaphragmatic hernia is detected by ultrasound during the second trimester.  The physician may suspect congenial diaphragmatic hernia when the stomach is not in the typical location and the bowel is next to the heart.  Please be aware that a right sided hernia is harder to detect.

Management Options and Outcomes

After detection, the physicians will perform several ultrasounds during the pregnancy to closely monitor the baby, determine the severity of the hernia and the check the amount of amniotic fluid.

An important aspect of the monitoring will be the calculation of the lung-head ration (LHR). The LHR is a good predictor to determine the severity of damage to the lungs.

If fetal surgery is not an option – after the baby is born the doctors will move the organs that have moved into the upper chest back into the abdomen in to their normal location.

Candidacy for Fetal Treatment

Yes at several centers around the country – one of the primary qualifications is a severe case of congenital diaphragmatic hernia. Otherwise corrective surgery will be done after birth.

Inclusion Criteria

  • The following must be present before the doctor will perform a tracheal occlusion:
  • Confirmed CDH with a portion of the liver herniated into chest
  • Lung to head ratio less than or equal to 0.9 to 1.0
  • Normal amniocentesis showing the absence of other major congenital anomalies
  • Less than 26 weeks gestation
  • Non-obese mother

Exclusion Criteria

If the following are present the doctor will not perform the tracheal occlusion:

  • Abnormal amniocentesis
  • Ruptured membranes
  • Abnormal uterus
  • Preterm uterus
  • Other birth defects in the fetus
  • BMI greater than 35

Details of Procedures

The doctor will provide a tracheal occlusion between weeks 26 to 29 followed by removal of the occlusion at 32 to 34 weeks gestation.

  A tracheal occlusion is when the doctors make a tiny incision in the mother and in the mother’s uterus and a tiny detachable balloon is placed in the fetal trachea.

  After surgery and until the balloon is removed you will have to have weekly ultrasounds.  The balloon is removed after the lungs have developed.  Both insertion and removal are done in utero.

Postoperative Care

The baby will unly be able to breathe on its own due to the underdevelopment to the lungs but that all depends on how severely the developing lungs were compromised due to the hernia.

Additional Information

Long term effects – up to 60% of infants with CDH will have gastroesophogeal reflux.  Approximately 20 to 30% will experience some neurologic issues.

Additional Resources

Source: https://www.fetalhealthfoundation.org/fetal-syndromes/congenital-diaphragmatic-hernia/

CDH Diagnosis

Detection of CDH may come during a routine ultrasound, which may reveal excess amniotic fluid and/or abdominal contents in the fetal chest cavity.

To confirm a prenatal diagnosis of CDH, doctors may perform a very detailed ultrasound, conduct testing of the fetus’s chromosomes and take measurements of its lung size.

During the ultrasound examination, doctors focus on specific findings that may point to the presence of a syndrome. The genetic testing is performed by amniocentesis.

The lung size is then measured and compared to the expected size at this stage of a pregnancy. This can be done by measuring the lung area to head circumference ratio (LHR) or comparing the observed/expected LHR (o/e LHR).

It is also important to determine whether the liver has also moved into the chest. these measurements, specialists at the Johns Hopkins Center for Fetal Therapy can grade the severity of CDH as mild, moderate or severe.

Specialized imaging techniques including magnetic resonance imaging (MRI) are used to help achieve the most accurate assessment.

Congenital diaphragmatic hernia may also be diagnosed after birth — often if a newborn is having trouble breathing.

While some birth defects can be prevented through prenatal care, it's important to know what treatments may exist if your fetus is diagnosed with a birth defect.

Following delivery, a baby with CDH may undergo surgery to close the defect. However, surgery after delivery does not address the lung damage that has already occurred.

For this reason, fetal therapeutic procedures are recommended in some pregnancies. These procedures may help decrease the amount of lung damage that can occur during the pregnancy.

The goal of fetal treatment is to reverse some of the lung damage that results from compression of the lungs.

Fetal Treatment for CDH

  • Fetoscopic tracheal occlusion (FETO): The fetal lungs produce fluid that leaves the body through the baby’s mouth. If this outflow of fluid is blocked, it has nowhere to go and swells up in the affected lung. When this occurs over a period of four to five weeks, the lung expands and its function appears to improve. This type of blockage can be achieved by temporarily blocking the fetal windpipe (trachea) with a balloon for a period of time. This is done by performing operative fetoscopy, known as FETO. It is believed that FETO works by increasing the lung maturation and reversing some of the damaging effects of CDH on lung function. 
  • Fetal surveillance and delivery planning: There is a high possibility that a baby with CDH will get worse before the anticipated due date. Part of a comprehensive treatment plan will involve close fetal and maternal monitoring to avoid severe fetal deterioration and to determine the circumstances and timing for optimal delivery.

Source: https://www.hopkinsmedicine.org/health/conditions-and-diseases/congenital-diaphragmatic-hernia

New Study by Johns Hopkins All Children’s Hospital Surgeon Shows Early Intervention in Rare Diaphragm Abnormality is Key for Survival

Congenital Diaphragmatic Hernia | Johns Hopkins Medicine

David Kays, M.D.

We are, conceptually, rewriting the book on surgical timing for diaphragmatic hernia

St. Petersburg, Fla. (PRWEB) April 29, 2016

A new study by a Johns Hopkins All Children’s Hospital surgeon reveals that infants born with severe congenital diaphragmatic hernia have better survival rates if surgery is performed early.

Approximately one in every 3,000 babies is born with congenital diaphragmatic hernia (CDH)—a condition where the diaphragm fails to form completely, letting abdominal organs into the chest cavity and ultimately obstructing lung growth.

In the April issue of the Journal of the American College of Surgeons, lead author, David Kays, M.D.

, explains that typically, after birth, these infants are put on a ventilator, resuscitated, and if they get better, they undergo surgery to repair the congenital diaphragmatic hernia at four to six days of life.

While this delayed repair is appropriate for many newborns, Kays the director of the new Congenital Diaphragmatic Hernia Program at Johns Hopkins All Children’s Hospital, explains the new study shows the more severe the child is, the earlier the repair should occur.

“We are, conceptually, rewriting the book on surgical timing for diaphragmatic hernia,” says Kays. “We have found that the more severe these babies are, the less they benefit from delay of repair.

So, liver position, lung size before birth and lung function after birth, we identify the most severe patients, and when indicated, we offer parents the option of early repair in the first four to 12 hours of life.

Performing the repair before they need ECMO (extracorporeal membrane oxygenation), a form of heart-lung bypass often required for severe CDH, gives them a distinct survival advantage.”

While the national survival rate for these severe cases of congenital diaphragmatic hernia is only 30 to 40 percent, Dr. Kays and his team achieved better than 90 percent survival with early repair before ECMO in severe CDH. Dr. Kays is the only physician in the world performing early repair of CDH scientific measurement of disease severity.

Read the study in the Journal of the American College of Surgeons: http://www.journalacs.org/article/S1072-7515(16)00050-8/fulltext#sec4

Funding for the study was provided by the National Institutes of Health’s National Center for Advancing Translational Sciences under award number UL1TR001427

David W. Kays, M.D., is lead author of the study. Co-investigators in the study include James L. Talbert, M.D.; Saleem Islam, M.D.; Shawn D. Larson, M.B.Ch.B.; Janice A. Taylor, M.D.; Joy Perkins, R.N., R.T.T.

About Johns Hopkins All Children’s Hospital
Johns Hopkins All Children’s Hospital in St. Petersburg is a leader in children’s health care, combining a legacy of compassionate care focused solely on children since 1926 with the innovation and experience of one of the world’s leading health care systems.

The 259-bed teaching hospital, ranked as a U.S. News & World Report Best Children’s Hospital, stands at the forefront of discovery, leading innovative research to cure and prevent childhood diseases while training the next generation of pediatric experts.

With a network of Johns Hopkins All Children’s Outpatient Care centers and collaborative care provided by All Children’s Specialty Physicians at regional hospitals, Johns Hopkins All Children’s brings care closer to home.

Johns Hopkins All Children’s Hospital consistently keeps the patient and family at the center of care while continuing to expand its mission in treatment, research, education and advocacy. For more information, visit HopkinsAllChildrens.org.

Source: https://www.prweb.com/releases/2016/05/prweb13381052.htm