Materiały źródłowe

• #1 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/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 close during prenatal development. This allows abdominal organs (stomach, intestines, and/or liver) to move into the chest. When a baby has CDH, their lungs will be smaller than expected (pulmonary hypoplasia), and will have less developed blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension). […] CDH is one of the most common major congenital anomalies, occurring in 1 of every 2,500 3,000 live births. Newborns affected with CDH will require immediate care at delivery, so early and accurate diagnosis is important. […] Most of the time, CDH is diagnosed during pregnancy. At Childrens Hospital of Philadelphia, we use sophisticated imaging to look at all aspects of the fetus. Liver position and lung size are two of the predictors of how the baby will do.

• #2 Congenital diaphragmatic hernia (CDH) in the neonate: Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/congenital-diaphragmatic-hernia-cdh-in-the-neonate-clinical-features-and-diagnosis/print

  Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that allows abdominal viscera to herniate into the chest. Affected neonates usually present in the first few minutes to hours after birth with respiratory distress that can range from mild to life-threatening. With improvements in antenatal diagnosis and neonatal care, survival has improved. However, infants with CDH continue to have a considerable risk of mortality and morbidity. […] The clinical manifestations and diagnosis of CDH in the newborn will be reviewed here. […] Reported prevalence rates of CDH range from 2 to 3 cases per 10,000 live births. It is more common in males than females, with a male-to-female ratio of 1.4 to 1. Approximately 5 to 10 percent of cases are associated with a chromosomal abnormality or genetic syndrome.

• #3 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/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 close during prenatal development. This allows abdominal organs (stomach, intestines, and/or liver) to move into the chest. When a baby has CDH, their lungs will be smaller than expected (pulmonary hypoplasia), and will have less developed blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension). […] CDH is one of the most common major congenital anomalies, occurring in 1 of every 2,500 3,000 live births. Newborns affected with CDH will require immediate care at delivery, so early and accurate diagnosis is important. […] Most of the time, CDH is diagnosed during pregnancy. At Childrens Hospital of Philadelphia, we use sophisticated imaging to look at all aspects of the fetus. Liver position and lung size are two of the predictors of how the baby will do.

• #4 Congenital Diaphragmatic Hernia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556076/

  Congenital diaphragmatic hernia (CDH) is a condition resulting from a developmental defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity. […] More than half of the cases of congenital diaphragmatic hernia are suspected prenatally during the routine anomaly scan done between 18 to 24 weeks of gestation. Visualization of abdominal contents in the thorax and mediastinal shift to the contralateral side of the diaphragmatic defect on ultrasound examination are characteristic features of CDH. […] Genetic evaluation is recommended in all cases of CDH, given the increased risk of chromosomal abnormalities and associated genetic syndromes. […] The delivery of infants with CDH is not recommended before the completion of 37 weeks gestation. […] In cases of prenatally diagnosed CDH, it is recommended to place a nasogastric tube soon after delivery for decompression of the stomach and intestines.

• #5 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  Congenital diaphragmatic hernia is most often found during a routine fetal ultrasound exam that’s done before your baby is born. […] Occasionally, the diagnosis may not be made until after birth. Rarely, CDH may not be diagnosed until childhood or later. This may be because there are no signs or symptoms or because signs and symptoms such as respiratory and intestinal problems are mild. […] Your health care provider uses prenatal ultrasound and other tests to track the growth and function of your baby’s lungs, heart and other organs during your pregnancy. […] If your baby shows signs of CDH, your provider may have you get ultrasound exams more often. This can show how severe CDH is and whether it’s getting worse. […] More tests may be done to assess the function of your baby’s organs. These may include: Fetal magnetic resonance imaging (MRI). This is a medical imaging technique that uses a magnetic field and computer-generated radio waves to create detailed images of the organs and tissues in the baby’s body.

• #6 Congenital Diaphragmatic hernia – a review | Maternal Health, Neonatology and Perinatology | Full Text

  https://mhnpjournal.biomedcentral.com/articles/10.1186/s40748-017-0045-1

  Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. […] Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes. […] Prenatal diagnosis by ultrasound detects more than 50% of CDH cases at a mean gestational age of 24 weeks. […] Three-dimensional ultrasound imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) are other prenatal diagnostic modalities used in assessing the severity and outcome of CDH. […] Indirect signs such as a shift in cardiac axis, identifying the gall bladder and vasculature in the liver using Doppler may aide in the diagnosis.

• #7 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  Despite its high impact on neonatal health, pathogenesis and etiology of CDH remain poorly understood. CDH is thought to be multi-factorial, with genetic, environmental, and nutritional factors playing a role. […] New insights have been produced after the development and availability of new genetic testing procedures including whole genome sequencing (WGS) and whole exome sequencing (WES). […] This review of the literature provides an overview of current knowledge of normal diaphragm embryogenesis and a summary of genetic mutations as well as related pathways and cellular mechanisms involved in CDH whose knowledge is essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. […] Prenatal diagnosis of CDH is possible as early as 12 weeks of gestation during first trimester ultrasound screen; CDH ultrasound detection is successful in 50% of cases at a mean gestational age of 24 weeks.

• #8 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/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 close during prenatal development. This allows abdominal organs (stomach, intestines, and/or liver) to move into the chest. When a baby has CDH, their lungs will be smaller than expected (pulmonary hypoplasia), and will have less developed blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension). […] CDH is one of the most common major congenital anomalies, occurring in 1 of every 2,500 3,000 live births. Newborns affected with CDH will require immediate care at delivery, so early and accurate diagnosis is important. […] Most of the time, CDH is diagnosed during pregnancy. At Childrens Hospital of Philadelphia, we use sophisticated imaging to look at all aspects of the fetus. Liver position and lung size are two of the predictors of how the baby will do.

• #9 Congenital Diaphragmatic Hernia (CDH) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/407519-overview

  In patients presenting in the neonatal and infantile periods, the classic radiographic appearance of congenital diaphragmatic hernia is one in which the left hemithorax is filled with cystlike structures (loops of bowel), the mediastinum is shifted to the right, and the abdomen is relatively devoid of gas. […] If the chest radiograph is obtained before any air has entered the herniated bowel, diagnosing this condition with accuracy may be difficult. […] MRI can accurately depict congenital diaphragmatic hernia and permits an easy diagnosis. MRI findings can be used to differentiate this condition from other chest masses, and MRI is superior to ultrasonography in demonstrating the position of the fetal liver above or below the diaphragm. […] The definite ultrasonographic diagnosis of fetal congenital diaphragmatic hernia lies on the visualization of abdominal organs in the chest; the ultrasonographic hallmark of this condition is a fluid-filled mass just behind the left atrium and ventricle in the lower thorax, as seen on a transverse view.

• #10 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  A prenatal ultrasound that suggests CDH should be further evaluated by a high-volume fetal center. […] Our team of dedicated imaging specialists uses the most advanced prenatal imaging techniques and state-of-the-art technologies available to gather detailed information about your babys diagnosis. […] The strongest prediction of the severity of CDH is the location of the liver. When the liver is up in the chest there is more pulmonary hypoplasia (small lungs). […] Approximately 83% of babies with CDH have a defect on the left side of the diaphragm. A left-sided CDH allows for the possibility of the stomach, intestines, and sometimes the liver to move (herniate) up into the babys chest. […] To ensure an accurate diagnosis, it is important to visit a fetal therapy center with a multidisciplinary team experienced in evaluating pregnancies affected by CDH.

• #11 Congenital Diaphragmatic Hernia (CDH): Symptoms, Diagnosis & Treatment | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/congenital-diaphragmatic-hernia

  Congenital diaphragmatic hernia may be found during routine prenatal ultrasound. […] If the condition is suspected, your physician may refer you to a fetal center for a comprehensive evaluation and or order additional testing, including: […] Anatomy ultrasound: a high-resolution ultrasound to confirm the diagnosis and assess for other anomalies. […] Fetal echocardiogram: a specialized ultrasound to evaluate the babys heart structure and function. […] Fetal MRI (magnetic resonance imaging): a non-invasive imaging technique to help provide additional details of the babys organs that may not have been visualized on ultrasound.

• #12 CDH Diagnosis – Children’s Hospital of Orange County

  https://choc.org/programs-services/pediatric-general-surgery/diaphragmatic-hernia/cdh-diagnosis/

  How is CDH diagnosed? CDH is typically diagnosed in utero during a routine prenatal ultrasound when the ultrasound shows excess amniotic fluid and/or movement of abdominal contents into the chest cavity. If this happens, your OB/GYN will refer you to a specialty center, like The Fetal Care Center of Southern California, where they’ll perform further testing to confirm your diagnosis and develop a treatment plan. […] Specialty fetal centers will use more in-depth tests to confirm your diagnosis and evaluate the current state of your baby’s CDH. The results will help determine the best path of treatment based on the type of CDH, lung growth and location of abdominal organs. Follow-up tests can include: Fetal ultrasound to view overall anatomy and CDH measurements to determine severity, Fetal echocardiogram to check for heart abnormalities, Fetal MRI to provide additional information of the chest, abdomen and lung growth that cannot be obtained from the ultrasound.

• #13 Congenital Diaphragmatic Hernia (CDH) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/congenital-diaphragmatic-hernia

  During routine prenatal care, an ultrasound may reveal the existence or suspicion of a diaphragmatic hernia. […] If a CDH is diagnosed or suspected during pregnancy, our clinicians will coordinate care through the Fetal Care and Surgery Center. The following tests are performed as part of the evaluation to confirm the presence of a CDH and to find out how severe it is: Ultrasound to evaluate for the presence of a CDH and any other abnormalities. […] Fetal MRI to evaluate the chest and abdomen in more detail and evaluate lung growth, which can help predict the severity of CDH and identify any other associated abnormalities. […] Fetal echocardiogram: An ultrasound of the heart to determine if there are any heart defects, which can be common with CDH. […] If a CDH hasn’t been diagnosed before birth, it is usually diagnosed in the newborn period when the baby has trouble breathing.

• #14 Congenital Diaphragmatic Hernia | Fetal Care Center | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/fetal-care-center/fetal-care-conditions/congenital-diaphragmatic-hernia

  Congenital diaphragmatic hernia (CDH) is among the most challenging anomalies to manage in the neonatal intensive care unit. […] The diagnosis of CDH is usually made by routine ultrasound when the fetal stomach bubble is noted to be adjacent to the fetal heart in the case of left-sided CDH. […] Ultrasound is an important imaging modality not only to diagnose the CDH but also to detect other anomalies which might be present, such as genitourinary, gastrointestinal, abdominal wall, and intracranial abnormalities. […] Fetal MRI is invaluable in confirming the presence of CDH, determining the presence and degree of liver herniation, and providing multiple lung measurements that provide prognostic information. […] Fetal echocardiography is essential to rule out congenital heart defects, which may be present up to 20% of cases of CDH.

• #15 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  Congenital diaphragmatic hernia is most often found during a routine fetal ultrasound exam that’s done before your baby is born. […] Occasionally, the diagnosis may not be made until after birth. Rarely, CDH may not be diagnosed until childhood or later. This may be because there are no signs or symptoms or because signs and symptoms such as respiratory and intestinal problems are mild. […] Your health care provider uses prenatal ultrasound and other tests to track the growth and function of your baby’s lungs, heart and other organs during your pregnancy. […] If your baby shows signs of CDH, your provider may have you get ultrasound exams more often. This can show how severe CDH is and whether it’s getting worse. […] More tests may be done to assess the function of your baby’s organs. These may include: Fetal magnetic resonance imaging (MRI). This is a medical imaging technique that uses a magnetic field and computer-generated radio waves to create detailed images of the organs and tissues in the baby’s body.

• #16 Congenital Diaphragmatic Hernia (CDH) | Fetal Diagnosis & Repair | Fetal Care Center

  https://www.cincinnatichildrens.org/service/f/fetal-care/conditions/congenital-diaphragmatic-hernia

  Fetal MRI to help look more closely at the babys condition and rule out other problems the baby could have due to CDH. […] Fetal echocardiography, a high-tech ultrasound of the babys heart, to see if the baby has a heart defect, which can happen along with CDH. […] Genetic studies to look at the chromosomes or other genetic material that make up the baby to see if there are changes that could have caused CDH. […] Babies born with congenital diaphragmatic hernia are at high risk of having severe breathing problems since their lungs have not developed properly. […] Managing these problems is the first and most important step in caring for babies with CDH after birth. […] Some babies with congenital diaphragmatic hernia do not require surgery after birth to repair the defect. Many, however, do.

• #17 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  The 2023 Canadian CDH Collaboratives clinical practice guideline update provides a management framework for infants and children with CDH based on the best available evidence and expert consensus. […] Prenatally diagnosed CDH is associated with additional structural and genetic anomalies in 30-40% of cases, most commonly cardiovascular malformations. […] All antenatally detected cases of CDH should undergo a detailed anatomical survey and fetal echocardiogram in a tertiary fetal medicine centre. […] All affected pregnancies should be offered invasive genetic testing with chromosomal microarray analysis (CMA) given a 10-13% risk of CMA abnormality in isolated CDH. […] Antenatal sonographic predictors of neonatal survival include the observed-to-expected lung-to-head ratio (o/e LHR) and intrathoracic liver herniation.

• #18 Congenital Diaphragmatic Hernia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556076/

  Congenital diaphragmatic hernia (CDH) is a condition resulting from a developmental defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity. […] More than half of the cases of congenital diaphragmatic hernia are suspected prenatally during the routine anomaly scan done between 18 to 24 weeks of gestation. Visualization of abdominal contents in the thorax and mediastinal shift to the contralateral side of the diaphragmatic defect on ultrasound examination are characteristic features of CDH. […] Genetic evaluation is recommended in all cases of CDH, given the increased risk of chromosomal abnormalities and associated genetic syndromes. […] The delivery of infants with CDH is not recommended before the completion of 37 weeks gestation. […] In cases of prenatally diagnosed CDH, it is recommended to place a nasogastric tube soon after delivery for decompression of the stomach and intestines.

• #19 Congenital Diaphragmatic hernia – a review | Maternal Health, Neonatology and Perinatology | Full Text

  https://mhnpjournal.biomedcentral.com/articles/10.1186/s40748-017-0045-1

  MRI has been found to be useful in detecting fetal anomalies and can be a valuable adjunct to evaluate the position of the liver and estimating lung volume. […] Major determinants of the outcomes in CDH are i) the presence of associated anomalies especially heart disease and ii) extent of lung hypoplasia and (iii) position of the liver. […] The prognosis of isolated CDH is generally better than CDH complicated by multiple anomalies. […] Metkus et al. used the ratio of the contralateral lung size compared with the head circumference to come up with the lung-to-head ratio (LHR) to assess the severity of pulmonary hypoplasia and to predict postnatal outcome in fetuses with CDH. […] LHR ratio is often used along with liver herniation to predict outcome.

• #20 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  The main determinants of CDH outcomes are the presence of associated abnormalities, particularly heart disease, extent of pulmonary hypoplasia, and liver position (intra-abdominal or intrathoracic). […] The prognosis of isolated CDH is better than CDH associated with multiple abnormalities; a higher survival rate has also been demonstrated for the former. […] Prenatal prognostic indicators also include gestational age at diagnosis, stomach position, polyhydramnios, lung size, mediastinal shift, lung-to-head ratio (LHR), and the preferable observed to expected normal mean for gestation lung-to-head ratio (O/E LHR). […] The degree of pulmonary hypoplasia is almost impossible to assess before and immediately after birth, and in most cases, the degree of pulmonary hypoplasia is an important determining factor in the outcome.

• #21 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  The 2023 Canadian CDH Collaboratives clinical practice guideline update provides a management framework for infants and children with CDH based on the best available evidence and expert consensus. […] Prenatally diagnosed CDH is associated with additional structural and genetic anomalies in 30-40% of cases, most commonly cardiovascular malformations. […] All antenatally detected cases of CDH should undergo a detailed anatomical survey and fetal echocardiogram in a tertiary fetal medicine centre. […] All affected pregnancies should be offered invasive genetic testing with chromosomal microarray analysis (CMA) given a 10-13% risk of CMA abnormality in isolated CDH. […] Antenatal sonographic predictors of neonatal survival include the observed-to-expected lung-to-head ratio (o/e LHR) and intrathoracic liver herniation.

• #22 Congenital diaphragmatic hernia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-diaphragmatic-hernia-1?lang=us

  The observed-to-expected lung-to-head ratio (O/E LHR) may be calculated and correlates with the degree of pulmonary hypoplasia. Studies suggest that the degree of lung hypoplasia can be used to predict survival rates and the numbers from the Antenatal-CDH-Registry group that apply to isolated left-sided CDH and liver herniation are shown below: O/E LHR 15% (extreme pulmonary hypoplasia): virtually no chance of survival; O/E LHR 15-25% (severe pulmonary hypoplasia): predicted survival 15%; O/E LHR 26-45% (moderate pulmonary hypoplasia): predicted survival 30-75%; O/E LHR 45% (mild pulmonary hypoplasia): very likely to survive. […] Fetuses with an antenatal diagnosis of CDH should be delivered in a tertiary referral center with access to neonatal intensive care and pediatric surgical facilities. Large CDH have a poor prognosis, due to pulmonary hypoplasia and perinatal mortality may be as high as 80%. Successful management is dependent on specialist pediatric facilities, with the ability to offer surgery, ECMO etc. […] A composite prognostic index (CDH-CPI) comprising 10 prenatal parameters has been developed and was found to have a stronger correlation with survival and need for ECMO than any one parameter individually.

• #23 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  A prenatal ultrasound that suggests CDH should be further evaluated by a high-volume fetal center. […] Our team of dedicated imaging specialists uses the most advanced prenatal imaging techniques and state-of-the-art technologies available to gather detailed information about your babys diagnosis. […] The strongest prediction of the severity of CDH is the location of the liver. When the liver is up in the chest there is more pulmonary hypoplasia (small lungs). […] Approximately 83% of babies with CDH have a defect on the left side of the diaphragm. A left-sided CDH allows for the possibility of the stomach, intestines, and sometimes the liver to move (herniate) up into the babys chest. […] To ensure an accurate diagnosis, it is important to visit a fetal therapy center with a multidisciplinary team experienced in evaluating pregnancies affected by CDH.

• #24 Congenital Diaphragmatic Hernia (CDH)

  https://fetus.ucsf.edu/cdh/

  Even when the CDH is severe, greater than 70% of affected babies can be saved with intensive support. […] In order to determine the severity of your fetus’s condition it is important to gather information from a variety of tests and determine if there are any additional problems. […] Careful and accurate prenatal assessment may help us predict before birth the severity of the CDH. […] When CDH is the only problem, we have learned that severity and, thus, outcome is determined by two factors: 1) liver position, and 2) lung-to-head ratio or LHR. […] Fetuses with liver herniated into the chest and a lung-head ratio less than 1.0 have a more severe form of CDH. […] Although you can be given a prognosis on the severity of the CDH, until the baby for sure is born, there isn’t a test to perform during pregnancy that can predict lung function.

• #25 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  A prenatal ultrasound that suggests CDH should be further evaluated by a high-volume fetal center. […] Our team of dedicated imaging specialists uses the most advanced prenatal imaging techniques and state-of-the-art technologies available to gather detailed information about your babys diagnosis. […] The strongest prediction of the severity of CDH is the location of the liver. When the liver is up in the chest there is more pulmonary hypoplasia (small lungs). […] Approximately 83% of babies with CDH have a defect on the left side of the diaphragm. A left-sided CDH allows for the possibility of the stomach, intestines, and sometimes the liver to move (herniate) up into the babys chest. […] To ensure an accurate diagnosis, it is important to visit a fetal therapy center with a multidisciplinary team experienced in evaluating pregnancies affected by CDH.

• #26 Congenital Diaphragmatic Hernia – Fetal Health Foundation

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

  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.

• #27 Congenital diaphragmatic hernia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-diaphragmatic-hernia-1?lang=us

  The observed-to-expected lung-to-head ratio (O/E LHR) may be calculated and correlates with the degree of pulmonary hypoplasia. Studies suggest that the degree of lung hypoplasia can be used to predict survival rates and the numbers from the Antenatal-CDH-Registry group that apply to isolated left-sided CDH and liver herniation are shown below: O/E LHR 15% (extreme pulmonary hypoplasia): virtually no chance of survival; O/E LHR 15-25% (severe pulmonary hypoplasia): predicted survival 15%; O/E LHR 26-45% (moderate pulmonary hypoplasia): predicted survival 30-75%; O/E LHR 45% (mild pulmonary hypoplasia): very likely to survive. […] Fetuses with an antenatal diagnosis of CDH should be delivered in a tertiary referral center with access to neonatal intensive care and pediatric surgical facilities. Large CDH have a poor prognosis, due to pulmonary hypoplasia and perinatal mortality may be as high as 80%. Successful management is dependent on specialist pediatric facilities, with the ability to offer surgery, ECMO etc. […] A composite prognostic index (CDH-CPI) comprising 10 prenatal parameters has been developed and was found to have a stronger correlation with survival and need for ECMO than any one parameter individually.

• #28 Congenital diaphragmatic hernia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-diaphragmatic-hernia-1?lang=us

  The observed-to-expected lung-to-head ratio (O/E LHR) may be calculated and correlates with the degree of pulmonary hypoplasia. Studies suggest that the degree of lung hypoplasia can be used to predict survival rates and the numbers from the Antenatal-CDH-Registry group that apply to isolated left-sided CDH and liver herniation are shown below: O/E LHR 15% (extreme pulmonary hypoplasia): virtually no chance of survival; O/E LHR 15-25% (severe pulmonary hypoplasia): predicted survival 15%; O/E LHR 26-45% (moderate pulmonary hypoplasia): predicted survival 30-75%; O/E LHR 45% (mild pulmonary hypoplasia): very likely to survive. […] Fetuses with an antenatal diagnosis of CDH should be delivered in a tertiary referral center with access to neonatal intensive care and pediatric surgical facilities. Large CDH have a poor prognosis, due to pulmonary hypoplasia and perinatal mortality may be as high as 80%. Successful management is dependent on specialist pediatric facilities, with the ability to offer surgery, ECMO etc. […] A composite prognostic index (CDH-CPI) comprising 10 prenatal parameters has been developed and was found to have a stronger correlation with survival and need for ECMO than any one parameter individually.

• #29 Congenital Diaphragmatic Hernia | Fetal Care Center | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/fetal-care-center/fetal-care-conditions/congenital-diaphragmatic-hernia

  We use the McGoon index and the prenatal pulmonary hypertension index (PPHI) to assess the severity of pulmonary hypertension. […] All of the data obtained during the comprehensive prenatal evaluation is integrated into a prognostic profile for the baby, which predicts the likely percent survival, the need for ECMO support, the severity of pulmonary hypertension and duration of NICU stay. […] In those fetuses with left sided CDH with an O/E LHR of 30% or right sided CDH with O/E LHR 45% may be candidates to be treated in utero with fetoscopic endoluminal balloon tracheal occlusion or FETO. […] The CDH Team will synthesize these data at the late gestation reassessment. […] In CDH, even if it is an isolated defect, there is a 10% rate of intrauterine fetal demise. […] A member of the CDH team is present for all CDH deliveries to assist the delivery team from the NICU.

• #30 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  Congenital diaphragmatic hernia is most often found during a routine fetal ultrasound exam that’s done before your baby is born. […] Occasionally, the diagnosis may not be made until after birth. Rarely, CDH may not be diagnosed until childhood or later. This may be because there are no signs or symptoms or because signs and symptoms such as respiratory and intestinal problems are mild. […] Your health care provider uses prenatal ultrasound and other tests to track the growth and function of your baby’s lungs, heart and other organs during your pregnancy. […] If your baby shows signs of CDH, your provider may have you get ultrasound exams more often. This can show how severe CDH is and whether it’s getting worse. […] More tests may be done to assess the function of your baby’s organs. These may include: Fetal magnetic resonance imaging (MRI). This is a medical imaging technique that uses a magnetic field and computer-generated radio waves to create detailed images of the organs and tissues in the baby’s body.

• #31 Congenital diaphragmatic hernia (CDH) in the neonate: Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/congenital-diaphragmatic-hernia-cdh-in-the-neonate-clinical-features-and-diagnosis/print

  Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that allows abdominal viscera to herniate into the chest. Affected neonates usually present in the first few minutes to hours after birth with respiratory distress that can range from mild to life-threatening. With improvements in antenatal diagnosis and neonatal care, survival has improved. However, infants with CDH continue to have a considerable risk of mortality and morbidity. […] The clinical manifestations and diagnosis of CDH in the newborn will be reviewed here. […] Reported prevalence rates of CDH range from 2 to 3 cases per 10,000 live births. It is more common in males than females, with a male-to-female ratio of 1.4 to 1. Approximately 5 to 10 percent of cases are associated with a chromosomal abnormality or genetic syndrome.

• #32 Diaphragmatic Hernias Workup: Laboratory Studies, Chest Radiography, Ultrasonography and Echocardiography

  https://emedicine.medscape.com/article/934824-workup

  Antenatal studies to be considered include the following: Amniocentesis for karyotype analysis – This should accompany a diagnosis of CDH, given that neonates with genetic anomalies portend a worse prognosis. […] The Score for Neonatal Acute Physiology (SNAP)-II has been suggested as a useful means of assessing the risk of mortality and the need for extracorporeal membrane oxygenation (ECMO) therapy in neonates with CDH. […] An early chest radiograph is obtained to confirm the diagnosis of CDH. Findings include loops of bowel in the chest, a mediastinal shift, a paucity of bowel gas in the abdomen, and the presence of the tip of a nasogastric tube in the thoracic stomach. […] Level III ultrasonography (US) and echocardiography should accompany a diagnosis of CDH. Antenatal echocardiography may identify cardiac anomalies (more commonly, ventricular hypoplasia, atrial septal defects, and ventricular septal defects).

• #33 Congenital Diaphragmatic Hernia (CDH) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/congenital-diaphragmatic-hernia

  The following tests are often done after birth: A chest X-ray is done to look at the abnormalities of the lungs, diaphragm, and intestine. […] An ultrasound of the heart (echocardiogram) provides further details about your child’s condition. […] A blood test — known as an arterial blood gas — is often performed to evaluate your baby’s breathing ability. […] Other blood tests determine if there is a genetic problem.

• #34 Congenital Diaphragmatic Hernia (CDH) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/congenital-diaphragmatic-hernia

  The following tests are often done after birth: A chest X-ray is done to look at the abnormalities of the lungs, diaphragm, and intestine. […] An ultrasound of the heart (echocardiogram) provides further details about your child’s condition. […] A blood test — known as an arterial blood gas — is often performed to evaluate your baby’s breathing ability. […] Other blood tests determine if there is a genetic problem.

• #35 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  Delivery is recommended in a tertiary care centre with neonatal intensive care unit (NICU) and paediatric surgery expertise in CDH management, as outborn delivery is a significant predictor of mortality. […] The neonatal resuscitation guideline from the American Heart Association and the American Academy of Pediatrics supports immediate endotracheal intubation for neonates with a known diagnosis of CDH and the avoidance of bag-valve-mask ventilation. […] Echocardiography is recommended shortly after birth, not only to verify suspected cardiac anomalies based on fetal echocardiography but also to assess cardiac dimensions and ventricular function, estimate pulmonary arterial pressures, assess for shunt physiology and guide/adjust cardiovascular support. […] The use of targeted pulmonary vasodilator therapy is recommended in the context of CDH-associated pulmonary hypertension when standard cardiorespiratory manoeuvres fail to maintain adequate oxygenation or cardiac function.

• #36 Congenital Diaphragmatic Hernia (CDH) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/congenital-diaphragmatic-hernia

  The following tests are often done after birth: A chest X-ray is done to look at the abnormalities of the lungs, diaphragm, and intestine. […] An ultrasound of the heart (echocardiogram) provides further details about your child’s condition. […] A blood test — known as an arterial blood gas — is often performed to evaluate your baby’s breathing ability. […] Other blood tests determine if there is a genetic problem.

• #37 Congenital Diaphragmatic Hernia (CDH) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/congenital-diaphragmatic-hernia

  The following tests are often done after birth: A chest X-ray is done to look at the abnormalities of the lungs, diaphragm, and intestine. […] An ultrasound of the heart (echocardiogram) provides further details about your child’s condition. […] A blood test — known as an arterial blood gas — is often performed to evaluate your baby’s breathing ability. […] Other blood tests determine if there is a genetic problem.

• #38 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  CDH hernia may occur in isolation (isolated CDH) in approximately 50% of cases or in association with additional congenital anomalies for the remainder (non-isolated CDH or CDH +), either as part of a genetic syndrome, a chromosome abnormality, or a nonsyndromic collection of major congenital malformations. […] Genetic contributions to CDH are heterogeneous, identified from animal models, conventional karyotype, chromosome microarray, and next-generation sequencing technology, including whole exome sequencing (WES) and whole genome sequencing (WGS). […] The purpose of identifying the cause is to discover and clarify the risk of recurrence. […] Most patients with CDH have no family history of CDH, leading to the hypothesis that de novo variants are an important etiological mechanism. […] These techniques also represent a useful tool for the diagnosis of new syndromes but also for the counseling and follow-up of newborns born with apparently isolated congenital defects.

• #39 Congenital Diaphragmatic Hernia (CDH) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/407519-overview

  Congenital diaphragmatic hernia (CDH) is a major surgical emergency in newborns. The key to survival lies in prompt diagnosis and treatment. […] CDH diagnosis can be challenging, as the clinical symptoms are often nonspecific, with radiographic findings potentially mimicking other chest conditions such as pneumonia, pleural effusion, and pneumothorax. An incorrect diagnosis may expose the patient to unnecessary or harmful interventions such as thoracostomy tube placement. […] In a study of by Style et al, MRI lung volumes at either the second or third trimester were predictive of morbidity, and second-trimester lung volumes strongly correlated with mortality. Total fetal lung volume (TFLV) was the only independent predictor of survival. […] Prenatally diagnosed CDH is associated with larger defect sizes than that identified with a postnatal diagnosis; right-sided CDH is more often missed at prenatal ultrasound than postnatally (53% vs 35%).

• #40 Congenital Diaphragmatic Hernia (CDH) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/407519-overview

  Congenital diaphragmatic hernia (CDH) is a major surgical emergency in newborns. The key to survival lies in prompt diagnosis and treatment. […] CDH diagnosis can be challenging, as the clinical symptoms are often nonspecific, with radiographic findings potentially mimicking other chest conditions such as pneumonia, pleural effusion, and pneumothorax. An incorrect diagnosis may expose the patient to unnecessary or harmful interventions such as thoracostomy tube placement. […] In a study of by Style et al, MRI lung volumes at either the second or third trimester were predictive of morbidity, and second-trimester lung volumes strongly correlated with mortality. Total fetal lung volume (TFLV) was the only independent predictor of survival. […] Prenatally diagnosed CDH is associated with larger defect sizes than that identified with a postnatal diagnosis; right-sided CDH is more often missed at prenatal ultrasound than postnatally (53% vs 35%).

• #41 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  CDH hernia may occur in isolation (isolated CDH) in approximately 50% of cases or in association with additional congenital anomalies for the remainder (non-isolated CDH or CDH +), either as part of a genetic syndrome, a chromosome abnormality, or a nonsyndromic collection of major congenital malformations. […] Genetic contributions to CDH are heterogeneous, identified from animal models, conventional karyotype, chromosome microarray, and next-generation sequencing technology, including whole exome sequencing (WES) and whole genome sequencing (WGS). […] The purpose of identifying the cause is to discover and clarify the risk of recurrence. […] Most patients with CDH have no family history of CDH, leading to the hypothesis that de novo variants are an important etiological mechanism. […] These techniques also represent a useful tool for the diagnosis of new syndromes but also for the counseling and follow-up of newborns born with apparently isolated congenital defects.

• #42 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  The 2023 Canadian CDH Collaboratives clinical practice guideline update provides a management framework for infants and children with CDH based on the best available evidence and expert consensus. […] Prenatally diagnosed CDH is associated with additional structural and genetic anomalies in 30-40% of cases, most commonly cardiovascular malformations. […] All antenatally detected cases of CDH should undergo a detailed anatomical survey and fetal echocardiogram in a tertiary fetal medicine centre. […] All affected pregnancies should be offered invasive genetic testing with chromosomal microarray analysis (CMA) given a 10-13% risk of CMA abnormality in isolated CDH. […] Antenatal sonographic predictors of neonatal survival include the observed-to-expected lung-to-head ratio (o/e LHR) and intrathoracic liver herniation.

• #43 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  The 2023 Canadian CDH Collaboratives clinical practice guideline update provides a management framework for infants and children with CDH based on the best available evidence and expert consensus. […] Prenatally diagnosed CDH is associated with additional structural and genetic anomalies in 30-40% of cases, most commonly cardiovascular malformations. […] All antenatally detected cases of CDH should undergo a detailed anatomical survey and fetal echocardiogram in a tertiary fetal medicine centre. […] All affected pregnancies should be offered invasive genetic testing with chromosomal microarray analysis (CMA) given a 10-13% risk of CMA abnormality in isolated CDH. […] Antenatal sonographic predictors of neonatal survival include the observed-to-expected lung-to-head ratio (o/e LHR) and intrathoracic liver herniation.

• #44 Congenital diaphragmatic hernia

  https://www.visualdx.com/visualdx/diagnosis/?moduleId=103&diagnosisId=56998&sex=F&age=3

  CDH is often classified according to the position of its diaphragmatic defect. […] Approximately 15% of CDHs are syndromic, and up to a quarter of the nonsyndromic cases are associated with other major congenital defects, including congenital defects of the heart, brain, genitourinary system, eyes, and central nervous system (CNS).

• #45 Management advances for congenital diaphragmatic hernia: integrating prenatal and postnatal perspectives – Baschat – Translational Pediatrics

  https://tp.amegroups.org/article/view/123659/html

  Once the diagnosis of CDH is suspected and the laterality has been determined the next step is evaluation for associated physical, genetic or syndromic conditions. The presence of any of these findings distinguishes isolated from complex CDH. In almost 50% of fetuses with CDH additional structural abnormalities are identified on prenatal imaging. […] Approximately 40% of prenatally diagnosed CDH cases are associated with other anomalies while 60% are isolated. Mortality of complex CDH is determined by the combined impact of pulmonary hypoplasia and associated physical or genetic abnormalities with expected survival as low as 15%. In isolated CDH determination of defect laterality, prenatal quantification of lung size, degree of liver herniation, and overall mediastinal displacement refines prediction of survival and morbidity. […] The ability to diagnose CDH by prenatal ultrasound and quantify factors that correlate with infant outcome forms the basis of prenatal risk stratification and informs management decisions including the option to undergo fetal treatment when indicated.

• #46 Diaphragmatic Hernias Workup: Laboratory Studies, Chest Radiography, Ultrasonography and Echocardiography

  https://emedicine.medscape.com/article/934824-workup

  Antenatal studies to be considered include the following: Amniocentesis for karyotype analysis – This should accompany a diagnosis of CDH, given that neonates with genetic anomalies portend a worse prognosis. […] The Score for Neonatal Acute Physiology (SNAP)-II has been suggested as a useful means of assessing the risk of mortality and the need for extracorporeal membrane oxygenation (ECMO) therapy in neonates with CDH. […] An early chest radiograph is obtained to confirm the diagnosis of CDH. Findings include loops of bowel in the chest, a mediastinal shift, a paucity of bowel gas in the abdomen, and the presence of the tip of a nasogastric tube in the thoracic stomach. […] Level III ultrasonography (US) and echocardiography should accompany a diagnosis of CDH. Antenatal echocardiography may identify cardiac anomalies (more commonly, ventricular hypoplasia, atrial septal defects, and ventricular septal defects).

• #47 Congenital Diaphragmatic Hernia | Fetal Care Center | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/fetal-care-center/fetal-care-conditions/congenital-diaphragmatic-hernia

  Congenital diaphragmatic hernia (CDH) is among the most challenging anomalies to manage in the neonatal intensive care unit. […] The diagnosis of CDH is usually made by routine ultrasound when the fetal stomach bubble is noted to be adjacent to the fetal heart in the case of left-sided CDH. […] Ultrasound is an important imaging modality not only to diagnose the CDH but also to detect other anomalies which might be present, such as genitourinary, gastrointestinal, abdominal wall, and intracranial abnormalities. […] Fetal MRI is invaluable in confirming the presence of CDH, determining the presence and degree of liver herniation, and providing multiple lung measurements that provide prognostic information. […] Fetal echocardiography is essential to rule out congenital heart defects, which may be present up to 20% of cases of CDH.

• #48 Management advances for congenital diaphragmatic hernia: integrating prenatal and postnatal perspectives – Baschat – Translational Pediatrics

  https://tp.amegroups.org/article/view/123659/html

  Once the diagnosis of CDH is suspected and the laterality has been determined the next step is evaluation for associated physical, genetic or syndromic conditions. The presence of any of these findings distinguishes isolated from complex CDH. In almost 50% of fetuses with CDH additional structural abnormalities are identified on prenatal imaging. […] Approximately 40% of prenatally diagnosed CDH cases are associated with other anomalies while 60% are isolated. Mortality of complex CDH is determined by the combined impact of pulmonary hypoplasia and associated physical or genetic abnormalities with expected survival as low as 15%. In isolated CDH determination of defect laterality, prenatal quantification of lung size, degree of liver herniation, and overall mediastinal displacement refines prediction of survival and morbidity. […] The ability to diagnose CDH by prenatal ultrasound and quantify factors that correlate with infant outcome forms the basis of prenatal risk stratification and informs management decisions including the option to undergo fetal treatment when indicated.

• #49 Congenital Diaphragmatic Hernia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556076/

  Congenital diaphragmatic hernia (CDH) is a condition resulting from a developmental defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity. […] More than half of the cases of congenital diaphragmatic hernia are suspected prenatally during the routine anomaly scan done between 18 to 24 weeks of gestation. Visualization of abdominal contents in the thorax and mediastinal shift to the contralateral side of the diaphragmatic defect on ultrasound examination are characteristic features of CDH. […] Genetic evaluation is recommended in all cases of CDH, given the increased risk of chromosomal abnormalities and associated genetic syndromes. […] The delivery of infants with CDH is not recommended before the completion of 37 weeks gestation. […] In cases of prenatally diagnosed CDH, it is recommended to place a nasogastric tube soon after delivery for decompression of the stomach and intestines.

• #50 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  The 2023 Canadian CDH Collaboratives clinical practice guideline update provides a management framework for infants and children with CDH based on the best available evidence and expert consensus. […] Prenatally diagnosed CDH is associated with additional structural and genetic anomalies in 30-40% of cases, most commonly cardiovascular malformations. […] All antenatally detected cases of CDH should undergo a detailed anatomical survey and fetal echocardiogram in a tertiary fetal medicine centre. […] All affected pregnancies should be offered invasive genetic testing with chromosomal microarray analysis (CMA) given a 10-13% risk of CMA abnormality in isolated CDH. […] Antenatal sonographic predictors of neonatal survival include the observed-to-expected lung-to-head ratio (o/e LHR) and intrathoracic liver herniation.

• #51 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  The 2023 Canadian CDH Collaboratives clinical practice guideline update provides a management framework for infants and children with CDH based on the best available evidence and expert consensus. […] Prenatally diagnosed CDH is associated with additional structural and genetic anomalies in 30-40% of cases, most commonly cardiovascular malformations. […] All antenatally detected cases of CDH should undergo a detailed anatomical survey and fetal echocardiogram in a tertiary fetal medicine centre. […] All affected pregnancies should be offered invasive genetic testing with chromosomal microarray analysis (CMA) given a 10-13% risk of CMA abnormality in isolated CDH. […] Antenatal sonographic predictors of neonatal survival include the observed-to-expected lung-to-head ratio (o/e LHR) and intrathoracic liver herniation.

• #52 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  CDH hernia may occur in isolation (isolated CDH) in approximately 50% of cases or in association with additional congenital anomalies for the remainder (non-isolated CDH or CDH +), either as part of a genetic syndrome, a chromosome abnormality, or a nonsyndromic collection of major congenital malformations. […] Genetic contributions to CDH are heterogeneous, identified from animal models, conventional karyotype, chromosome microarray, and next-generation sequencing technology, including whole exome sequencing (WES) and whole genome sequencing (WGS). […] The purpose of identifying the cause is to discover and clarify the risk of recurrence. […] Most patients with CDH have no family history of CDH, leading to the hypothesis that de novo variants are an important etiological mechanism. […] These techniques also represent a useful tool for the diagnosis of new syndromes but also for the counseling and follow-up of newborns born with apparently isolated congenital defects.

• #53 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  CDH hernia may occur in isolation (isolated CDH) in approximately 50% of cases or in association with additional congenital anomalies for the remainder (non-isolated CDH or CDH +), either as part of a genetic syndrome, a chromosome abnormality, or a nonsyndromic collection of major congenital malformations. […] Genetic contributions to CDH are heterogeneous, identified from animal models, conventional karyotype, chromosome microarray, and next-generation sequencing technology, including whole exome sequencing (WES) and whole genome sequencing (WGS). […] The purpose of identifying the cause is to discover and clarify the risk of recurrence. […] Most patients with CDH have no family history of CDH, leading to the hypothesis that de novo variants are an important etiological mechanism. […] These techniques also represent a useful tool for the diagnosis of new syndromes but also for the counseling and follow-up of newborns born with apparently isolated congenital defects.

• #54 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  CDH hernia may occur in isolation (isolated CDH) in approximately 50% of cases or in association with additional congenital anomalies for the remainder (non-isolated CDH or CDH +), either as part of a genetic syndrome, a chromosome abnormality, or a nonsyndromic collection of major congenital malformations. […] Genetic contributions to CDH are heterogeneous, identified from animal models, conventional karyotype, chromosome microarray, and next-generation sequencing technology, including whole exome sequencing (WES) and whole genome sequencing (WGS). […] The purpose of identifying the cause is to discover and clarify the risk of recurrence. […] Most patients with CDH have no family history of CDH, leading to the hypothesis that de novo variants are an important etiological mechanism. […] These techniques also represent a useful tool for the diagnosis of new syndromes but also for the counseling and follow-up of newborns born with apparently isolated congenital defects.

• #55 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  Genetic tests. Genetic testing can identify genetic syndromes or other gene changes that are sometimes associated with CDH. Genetic counseling can help you understand these test results and give you more information about your baby’s condition. […] Treatment of congenital diaphragmatic hernia depends on when the condition is found and how serious it is. Your health care team helps you decide what’s best for you and your baby. […] Your health care team watches you closely before your baby is born. You typically have ultrasounds and other tests often to check your baby’s health and development. […] An emerging treatment for severe CDH now being studied is called fetoscopic endoluminal tracheal occlusion (FETO). This surgery is done on your baby while you’re still pregnant. The goal is to help the baby’s lungs grow as much as possible before birth.

• #56 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  Genetic tests. Genetic testing can identify genetic syndromes or other gene changes that are sometimes associated with CDH. Genetic counseling can help you understand these test results and give you more information about your baby’s condition. […] Treatment of congenital diaphragmatic hernia depends on when the condition is found and how serious it is. Your health care team helps you decide what’s best for you and your baby. […] Your health care team watches you closely before your baby is born. You typically have ultrasounds and other tests often to check your baby’s health and development. […] An emerging treatment for severe CDH now being studied is called fetoscopic endoluminal tracheal occlusion (FETO). This surgery is done on your baby while you’re still pregnant. The goal is to help the baby’s lungs grow as much as possible before birth.

• #57 Prenatal Diagnosis of Diaphragmatic Hernia | IntechOpen

  https://www.intechopen.com/chapters/81570

  The prenatal management of fetuses affected by CDH essentially provides for an ultrasound monitoring of the ultrasound parameters described above, associated in doubtful cases with second level examinations such as resonance. […] The technique currently most used is fetal tracheal occlusion (FETO): it is based on the principle that the occlusion of the trachea prevents the leakage of fluids, increasing the pressure in the airways and promoting lung growth. […] In children with CDH, the only medical treatment for which there is evidence of efficacy is corticosteroid therapy: maternal administration of one or two doses of corticosteroids at 3436 weeks of gestation appears to be correlated with a reduction in respiratory morbidity at birth. […] The optimal timing and modality of delivery for children with CDH are still under discussion today.

• #58 Congenital Diaphragmatic Hernia | Fetal Care Center | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/fetal-care-center/fetal-care-conditions/congenital-diaphragmatic-hernia

  We use the McGoon index and the prenatal pulmonary hypertension index (PPHI) to assess the severity of pulmonary hypertension. […] All of the data obtained during the comprehensive prenatal evaluation is integrated into a prognostic profile for the baby, which predicts the likely percent survival, the need for ECMO support, the severity of pulmonary hypertension and duration of NICU stay. […] In those fetuses with left sided CDH with an O/E LHR of 30% or right sided CDH with O/E LHR 45% may be candidates to be treated in utero with fetoscopic endoluminal balloon tracheal occlusion or FETO. […] The CDH Team will synthesize these data at the late gestation reassessment. […] In CDH, even if it is an isolated defect, there is a 10% rate of intrauterine fetal demise. […] A member of the CDH team is present for all CDH deliveries to assist the delivery team from the NICU.

• #59 Drew’s congenital diaphragmatic hernia (CDH) diagnosis | Texas Children’s

  https://www.texaschildrens.org/content/patient-stories/drews-congenital-diaphragmatic-hernia-cdh-diagnosis

  Drew had congenital diaphragmatic hernia (CDH), a condition where the diaphragm doesn’t properly form, allowing the abdominal organs to migrate into the chest cavity often compressing the heart and preventing lung growth. […] The MFM doctor we saw that day knew of a fetal intervention for CDH babies. […] We had scheduled a comprehensive evaluation at Texas Children’s Fetal Center to see if we would qualify for Fetal Endotracheal Occlusion (FETO)—a surgery performed in utero that would aid in Drew’s lung growth, giving him a better chance of survival once he was born. […] During our evaluation we would learn that Drew not only had severe CDH, but also congenital heart disease. […] Drew has had eight surgeries. […] Drew has a G-tube but is starting to eat some food orally and is getting closer to walking.

• #60 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  Genetic tests. Genetic testing can identify genetic syndromes or other gene changes that are sometimes associated with CDH. Genetic counseling can help you understand these test results and give you more information about your baby’s condition. […] Treatment of congenital diaphragmatic hernia depends on when the condition is found and how serious it is. Your health care team helps you decide what’s best for you and your baby. […] Your health care team watches you closely before your baby is born. You typically have ultrasounds and other tests often to check your baby’s health and development. […] An emerging treatment for severe CDH now being studied is called fetoscopic endoluminal tracheal occlusion (FETO). This surgery is done on your baby while you’re still pregnant. The goal is to help the baby’s lungs grow as much as possible before birth.

• #61 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  Delivery is recommended in a tertiary care centre with neonatal intensive care unit (NICU) and paediatric surgery expertise in CDH management, as outborn delivery is a significant predictor of mortality. […] The neonatal resuscitation guideline from the American Heart Association and the American Academy of Pediatrics supports immediate endotracheal intubation for neonates with a known diagnosis of CDH and the avoidance of bag-valve-mask ventilation. […] Echocardiography is recommended shortly after birth, not only to verify suspected cardiac anomalies based on fetal echocardiography but also to assess cardiac dimensions and ventricular function, estimate pulmonary arterial pressures, assess for shunt physiology and guide/adjust cardiovascular support. […] The use of targeted pulmonary vasodilator therapy is recommended in the context of CDH-associated pulmonary hypertension when standard cardiorespiratory manoeuvres fail to maintain adequate oxygenation or cardiac function.

• #62 Congenital diaphragmatic hernia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-diaphragmatic-hernia-1?lang=us

  The observed-to-expected lung-to-head ratio (O/E LHR) may be calculated and correlates with the degree of pulmonary hypoplasia. Studies suggest that the degree of lung hypoplasia can be used to predict survival rates and the numbers from the Antenatal-CDH-Registry group that apply to isolated left-sided CDH and liver herniation are shown below: O/E LHR 15% (extreme pulmonary hypoplasia): virtually no chance of survival; O/E LHR 15-25% (severe pulmonary hypoplasia): predicted survival 15%; O/E LHR 26-45% (moderate pulmonary hypoplasia): predicted survival 30-75%; O/E LHR 45% (mild pulmonary hypoplasia): very likely to survive. […] Fetuses with an antenatal diagnosis of CDH should be delivered in a tertiary referral center with access to neonatal intensive care and pediatric surgical facilities. Large CDH have a poor prognosis, due to pulmonary hypoplasia and perinatal mortality may be as high as 80%. Successful management is dependent on specialist pediatric facilities, with the ability to offer surgery, ECMO etc. […] A composite prognostic index (CDH-CPI) comprising 10 prenatal parameters has been developed and was found to have a stronger correlation with survival and need for ECMO than any one parameter individually.

• #63 Congenital Diaphragmatic Hernia (CDH)

  https://fetus.ucsf.edu/cdh/

  The majority of CDHs occur on the left side. The hole allows the contents of the abdomen (stomach, intestine, liver, spleen, and kidneys) to go up into the fetal chest. The herniation of these abdominal organs into the chest occupies that space and prevents the lungs from growing to normal size. The result of this is called pulmonary hypoplasia. […] There is a wide range of severity and outcomes for CDH. […] How the baby does after birth is determined by how well the lung grows before birth and its function. […] Fetuses on the best end of the spectrum have an excellent chance to lead a perfectly normal life. […] On the other end of the spectrum, babies with severe CDH and very small lungs can have difficult challenges after birth, and some will not survive. […] Babies with CDH should be delivered in an experienced tertiary perinatal center with ECMO capability.

• #64 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  Delivery is recommended in a tertiary care centre with neonatal intensive care unit (NICU) and paediatric surgery expertise in CDH management, as outborn delivery is a significant predictor of mortality. […] The neonatal resuscitation guideline from the American Heart Association and the American Academy of Pediatrics supports immediate endotracheal intubation for neonates with a known diagnosis of CDH and the avoidance of bag-valve-mask ventilation. […] Echocardiography is recommended shortly after birth, not only to verify suspected cardiac anomalies based on fetal echocardiography but also to assess cardiac dimensions and ventricular function, estimate pulmonary arterial pressures, assess for shunt physiology and guide/adjust cardiovascular support. […] The use of targeted pulmonary vasodilator therapy is recommended in the context of CDH-associated pulmonary hypertension when standard cardiorespiratory manoeuvres fail to maintain adequate oxygenation or cardiac function.

• #65 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  Delivery is recommended in a tertiary care centre with neonatal intensive care unit (NICU) and paediatric surgery expertise in CDH management, as outborn delivery is a significant predictor of mortality. […] The neonatal resuscitation guideline from the American Heart Association and the American Academy of Pediatrics supports immediate endotracheal intubation for neonates with a known diagnosis of CDH and the avoidance of bag-valve-mask ventilation. […] Echocardiography is recommended shortly after birth, not only to verify suspected cardiac anomalies based on fetal echocardiography but also to assess cardiac dimensions and ventricular function, estimate pulmonary arterial pressures, assess for shunt physiology and guide/adjust cardiovascular support. […] The use of targeted pulmonary vasodilator therapy is recommended in the context of CDH-associated pulmonary hypertension when standard cardiorespiratory manoeuvres fail to maintain adequate oxygenation or cardiac function.

• #66 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  After all testing is complete, our team, led by a maternal-fetal medicine specialist and a pediatric surgeon both with experience managing pregnancies affected by CDH, meets with you and your family. […] Fetoscopic endoluminal tracheal occlusion (FETO) is a fetal surgery procedure that may improve outcomes in babies with severe cases of CDH. […] The health of a baby born with CDH can change unexpectedly. This makes it critically important to deliver within the hospital where your baby will be cared for after birth, and have all specialized care immediately available in one location. […] For babies born with CDH, every little detail matters and can impact the outcome. It is important that your baby be treated by a team with experience caring for babies with CDH. […] Surgical repair of CDH after delivery depends on your individual babys progress in the days following birth.

• #67 Congenital Diaphragmatic Hernia (CDH) | Fetal Diagnosis & Repair | Fetal Care Center

  https://www.cincinnatichildrens.org/service/f/fetal-care/conditions/congenital-diaphragmatic-hernia

  The surgery takes place days or weeks after birth, once the babys condition has become more stable. […] The long-term outcome of infants with CDH depends on how severe is the underlying underdevelopment of the lungs, the severity of blood vessel narrowing to the lungs (called pulmonary hypertension) and the degree of chronic lung disease from having long-term breathing support. […] The Fetal Care Center is one of the countrys only hospitals with a dedicated team of CDH specialists. […] Our team offers: Consistency. The same team of physicians cares for patients from diagnosis through long-term follow up. […] Collaboration. Physicians from many specialties share their expertise to ensure that each aspect of a childs care is taken care of. […] Sophisticated treatment options. Our experience with CDH and commitment to research means that we can provide the most useful treatments available. […] Family-centered care. We encourage parents to be a part in every aspect of their childs care, and we value their input.

• #68 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  After all testing is complete, our team, led by a maternal-fetal medicine specialist and a pediatric surgeon both with experience managing pregnancies affected by CDH, meets with you and your family. […] Fetoscopic endoluminal tracheal occlusion (FETO) is a fetal surgery procedure that may improve outcomes in babies with severe cases of CDH. […] The health of a baby born with CDH can change unexpectedly. This makes it critically important to deliver within the hospital where your baby will be cared for after birth, and have all specialized care immediately available in one location. […] For babies born with CDH, every little detail matters and can impact the outcome. It is important that your baby be treated by a team with experience caring for babies with CDH. […] Surgical repair of CDH after delivery depends on your individual babys progress in the days following birth.

• #69 Congenital Diaphragmatic Hernia (CDH) | Fetal Diagnosis & Repair | Fetal Care Center

  https://www.cincinnatichildrens.org/service/f/fetal-care/conditions/congenital-diaphragmatic-hernia

  The surgery takes place days or weeks after birth, once the babys condition has become more stable. […] The long-term outcome of infants with CDH depends on how severe is the underlying underdevelopment of the lungs, the severity of blood vessel narrowing to the lungs (called pulmonary hypertension) and the degree of chronic lung disease from having long-term breathing support. […] The Fetal Care Center is one of the countrys only hospitals with a dedicated team of CDH specialists. […] Our team offers: Consistency. The same team of physicians cares for patients from diagnosis through long-term follow up. […] Collaboration. Physicians from many specialties share their expertise to ensure that each aspect of a childs care is taken care of. […] Sophisticated treatment options. Our experience with CDH and commitment to research means that we can provide the most useful treatments available. […] Family-centered care. We encourage parents to be a part in every aspect of their childs care, and we value their input.

• #70 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  FETO may not be the right choice for everyone. And there’s no guarantee about the results of surgery. Your health care team evaluates you and your baby to see whether you may be candidates for this surgery. […] After birth, the health care team helps you plan treatment that meets your baby’s needs. Your baby will likely be cared for in the newborn intensive care unit (NICU). […] Most babies who have CDH have surgery to close the hole in the diaphragm. When this surgery takes place depends on your baby’s health and other factors. Follow-up care to ensure the repair remains in place usually includes chest X-rays. […] Regular follow-up appointments with your child’s health care provider can address any problems early.

• #71 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  Long-term follow-up by a team of experts is important to provide the best clinical care to your child. Childrens Hospital of Philadelphias unique Pulmonary Hypoplasia Program (PHP) provides comprehensive, interdisciplinary follow-up care for children with CDH. […] Most babies with CDH cared for by CHOP meet expected growth and developmental milestones by kindergarten.

• #72 Congenital diaphragmatic hernia (CDH) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-diaphragmatic-hernia/diagnosis-treatment/drc-20544259

  FETO may not be the right choice for everyone. And there’s no guarantee about the results of surgery. Your health care team evaluates you and your baby to see whether you may be candidates for this surgery. […] After birth, the health care team helps you plan treatment that meets your baby’s needs. Your baby will likely be cared for in the newborn intensive care unit (NICU). […] Most babies who have CDH have surgery to close the hole in the diaphragm. When this surgery takes place depends on your baby’s health and other factors. Follow-up care to ensure the repair remains in place usually includes chest X-rays. […] Regular follow-up appointments with your child’s health care provider can address any problems early.

• #73 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  A recent guideline statement from the Extracorporeal Life Support Organization (ELSO) was published without clear adherence to GRADE methodological standards. […] There continues to be sparse evidence that ECLS confers a survival advantage in CDH. […] Delaying surgical repair until physiological stability has been achieved appears to optimise CDH outcome. […] Studies have explored outcomes according to early or late repair on ECLS with conflicting results. […] Gastro-oesophageal reflux disease (GERD) is extremely prevalent with formal impedance testing demonstrating persistence of GERD in 60% of infants with CDH beyond 1 year of age. […] Studies continue to deepen our understanding of the long-term sequelae of CDH beyond the initial NICU admission along a number of biophysical domains, including cardiopulmonary, gastrointestinal/nutrition/growth, neurodevelopmental, musculoskeletal and all-cause late mortality. […] A systematic review and subsequent clinical guidelines for analgesia and sedation in term and near-term infants requiring mechanical ventilation made recommendations for infants with severe respiratory failure, which apply to patients with CDH.

• #74 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  A recent guideline statement from the Extracorporeal Life Support Organization (ELSO) was published without clear adherence to GRADE methodological standards. […] There continues to be sparse evidence that ECLS confers a survival advantage in CDH. […] Delaying surgical repair until physiological stability has been achieved appears to optimise CDH outcome. […] Studies have explored outcomes according to early or late repair on ECLS with conflicting results. […] Gastro-oesophageal reflux disease (GERD) is extremely prevalent with formal impedance testing demonstrating persistence of GERD in 60% of infants with CDH beyond 1 year of age. […] Studies continue to deepen our understanding of the long-term sequelae of CDH beyond the initial NICU admission along a number of biophysical domains, including cardiopulmonary, gastrointestinal/nutrition/growth, neurodevelopmental, musculoskeletal and all-cause late mortality. […] A systematic review and subsequent clinical guidelines for analgesia and sedation in term and near-term infants requiring mechanical ventilation made recommendations for infants with severe respiratory failure, which apply to patients with CDH.

• #75 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  Long-term follow-up by a team of experts is important to provide the best clinical care to your child. Childrens Hospital of Philadelphias unique Pulmonary Hypoplasia Program (PHP) provides comprehensive, interdisciplinary follow-up care for children with CDH. […] Most babies with CDH cared for by CHOP meet expected growth and developmental milestones by kindergarten.

• #76 Congenital Diaphragmatic Hernia | UCSF Department of Surgery

  https://pedsurg.ucsf.edu/condition/congenital-diaphragmatic-hernia

  If the opening in the diaphragm is large or a significant portion of the diaphragm is absent, the surgeon will require additional tissue or material to close the defect. […] In select circumstances, infants may be a candidate for a minimally invasive thoracoscopic repair. The surgeon will determine the type of repair required and the material to be used, at the time of the operation. […] Children with CDH frequently suffer from gastroesophageal reflux disease or GERD. Reflux means stomach contents reflux or back-up from the stomach into the esophagus. Gastroesophageal reflux can cause vomiting, heart burn and pain with feeding, breathing problems including pneumonia, apnea (periods of breath holding) and poor growth. […] Children with CDH often have respiratory problems. This is due to impairment in lung growth (lung hypoplasia) which occurs before birth. Some children with respiratory problems may require supplemental oxygen at home. […] Some children require subsequent operation(s) to repair a recurrence of the CDH. Often this is related to the severity of the CDH at birth, and whether or not a synthetic patch was required to close the hole in the diaphragm.

• #77 Congenital Diaphragmatic Hernia (CDH)

  https://fetus.ucsf.edu/cdh/

  For those families who choose to continue the pregnancy the most important next step is the accurate prenatal diagnosis about the severity of the condition which determines the choices available for prenatal management. […] Babies with CDH should be delivered at a tertiary perinatal center with a high-level intensive care nursery and pediatric surgery. […] The long-term outcome depends on the severity of the CDH and the need for very intensive support. […] How a baby with congenital diaphragmatic hernia recovers after birth is determined by many factors. […] Complications can include: CDH recurrence, respiratory issues, gastrointestinal issues, problems with skeletal development, hearing screening, and developmental delay.

• #78 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  Long-term follow-up by a team of experts is important to provide the best clinical care to your child. Childrens Hospital of Philadelphias unique Pulmonary Hypoplasia Program (PHP) provides comprehensive, interdisciplinary follow-up care for children with CDH. […] Most babies with CDH cared for by CHOP meet expected growth and developmental milestones by kindergarten.

• #79 Congenital Diaphragmatic Hernia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/congenital-diaphragmatic-hernia/

  A few weeks after your baby goes home from the hospital, we will see them in our CDH follow-up clinic at Seattle Childrens hospital campus. […] Our team includes a surgeon, pulmonologist, nutritionist and cardiologist. […] Overall outcomes for babies born with a congenital diaphragmatic hernia are excellent. Most children who receive follow-up CDH care at Seattle Childrens meet expected milestones for growth and development by the time they start school.

• #80 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  Objective The Canadian Congenital Diaphragmatic Hernia (CDH) Collaborative sought to make its existing clinical practice guideline, published in 2018, into a living document. […] Critical appraisal of CDH literature adhering to Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. Evidence accumulated between 1 January 2017 and 30 August 2022 was analysed to inform changes to existing or the development of new CDH care recommendations. […] Of the 3868 articles retrieved in our search that covered the 15 areas of CDH care, 459 underwent full-text review. Ultimately, 103 articles were used to inform 20 changes to existing recommendations, which included aspects related to prenatal diagnosis, echocardiographic evaluation, pulmonary hypertension management, surgical readiness criteria, the type of surgical repair and long-term health surveillance.

• #81 Congenital Diaphragmatic Hernia (CDH) | Memorial Hermann

  https://memorialhermann.org/services/conditions/congenital-diaphragmatic-hernia

  Congenital diaphragmatic hernia (CDH) is a complex condition that requires immediate care from a team of specialists upon diagnosis, which can be a vital component to successful outcomes for patients. […] CDH affects approximately 1,000 babies each year and many will have severe complications at birth and throughout childhood. […] CDH care must involve specialized expertise to optimize outcomes. […] Children’s Memorial Hermann Hospital and affiliated physicians provide families with a continuum of care and resources for their child’s health care needs from fetal diagnosis, through infancy, childhood and into adulthood. […] The affiliated physician researchers at Children’s Memorial Hermann Hospital are actively involved in research projects focused on the mechanisms, treatment, and cure of CDH and other fetal disorders with the goal of improving patient outcomes.

• #82 Congenital Diaphragmatic hernia – a review | Maternal Health, Neonatology and Perinatology | Full Text

  https://mhnpjournal.biomedcentral.com/articles/10.1186/s40748-017-0045-1

  Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. […] Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes. […] Prenatal diagnosis by ultrasound detects more than 50% of CDH cases at a mean gestational age of 24 weeks. […] Three-dimensional ultrasound imaging, fetal echocardiography and fetal magnetic resonance imaging (MRI) are other prenatal diagnostic modalities used in assessing the severity and outcome of CDH. […] Indirect signs such as a shift in cardiac axis, identifying the gall bladder and vasculature in the liver using Doppler may aide in the diagnosis.

• #83 Congenital Diaphragmatic Hernia (CDH) Imaging: Practice Essentials, Radiography, Computed Tomography

  https://emedicine.medscape.com/article/407519-overview

  Congenital diaphragmatic hernia (CDH) is a major surgical emergency in newborns. The key to survival lies in prompt diagnosis and treatment. […] CDH diagnosis can be challenging, as the clinical symptoms are often nonspecific, with radiographic findings potentially mimicking other chest conditions such as pneumonia, pleural effusion, and pneumothorax. An incorrect diagnosis may expose the patient to unnecessary or harmful interventions such as thoracostomy tube placement. […] In a study of by Style et al, MRI lung volumes at either the second or third trimester were predictive of morbidity, and second-trimester lung volumes strongly correlated with mortality. Total fetal lung volume (TFLV) was the only independent predictor of survival. […] Prenatally diagnosed CDH is associated with larger defect sizes than that identified with a postnatal diagnosis; right-sided CDH is more often missed at prenatal ultrasound than postnatally (53% vs 35%).

• #84 Congenital Diaphragmatic Hernia | Fetal Care Center | Connecticut Children’s

  https://www.connecticutchildrens.org/specialties-conditions/fetal-care-center/fetal-care-conditions/congenital-diaphragmatic-hernia

  We use the McGoon index and the prenatal pulmonary hypertension index (PPHI) to assess the severity of pulmonary hypertension. […] All of the data obtained during the comprehensive prenatal evaluation is integrated into a prognostic profile for the baby, which predicts the likely percent survival, the need for ECMO support, the severity of pulmonary hypertension and duration of NICU stay. […] In those fetuses with left sided CDH with an O/E LHR of 30% or right sided CDH with O/E LHR 45% may be candidates to be treated in utero with fetoscopic endoluminal balloon tracheal occlusion or FETO. […] The CDH Team will synthesize these data at the late gestation reassessment. […] In CDH, even if it is an isolated defect, there is a 10% rate of intrauterine fetal demise. […] A member of the CDH team is present for all CDH deliveries to assist the delivery team from the NICU.

• #85 Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

  https://www.mdpi.com/1422-0067/22/12/6353

  Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. […] Despite improvements in survival with advanced diagnostic techniques along with medical and surgical care, the average mortality rate worldwide is 50%, depending primarily on pulmonary hypoplasia, pulmonary hypertension, and heart failure. […] Prenatal ultrasound detection is successful in 50% of CDH cases at a mean gestational age of 24 weeks; fetal magnetic resonance imaging (MRI), fetal echocardiography, and three-dimensional ultrasound imaging also play a role in the study of congenital diaphragmatic hernia, including diagnosis, severity stratification, and prognostic prediction.

• #86 Congenital Diaphragmatic Hernia (CDH) | Memorial Hermann

  https://memorialhermann.org/services/conditions/congenital-diaphragmatic-hernia

  Congenital diaphragmatic hernia (CDH) is a complex condition that requires immediate care from a team of specialists upon diagnosis, which can be a vital component to successful outcomes for patients. […] CDH affects approximately 1,000 babies each year and many will have severe complications at birth and throughout childhood. […] CDH care must involve specialized expertise to optimize outcomes. […] Children’s Memorial Hermann Hospital and affiliated physicians provide families with a continuum of care and resources for their child’s health care needs from fetal diagnosis, through infancy, childhood and into adulthood. […] The affiliated physician researchers at Children’s Memorial Hermann Hospital are actively involved in research projects focused on the mechanisms, treatment, and cure of CDH and other fetal disorders with the goal of improving patient outcomes.

• #87 Congenital Diaphragmatic Hernia (CDH) Research | Duke Department of Pediatrics

  https://pediatrics.duke.edu/divisions/neonatology/research/neonatal-perinatal-research-unit-npru/congenital-diaphragmatic

  Congenital Diaphragmatic Hernia (CDH) is a result from the incomplete formation of the diaphragm, the muscle that separates the abdomen from the chest. […] CDH is repairable, and occurs in about 1 in every 2,500 live births in the US every year. It is most often diagnosed before birth. Immediately after birth, infants born with CDH will be stabilized in the intensive care nursery. Typically, surgical repair occurs several days after delivery. […] This is a multicenter/multinational, observational registry of children born with CDH. […] The purpose of this Quality Improvement (QI) registry and the CDH Study Group is to collect and analyze information on CDH with the hope that with careful delineation of the natural history of this disease the information will lead to identifying appropriate interventions that will directly benefit infants born with CDH.

• #88 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/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 close during prenatal development. This allows abdominal organs (stomach, intestines, and/or liver) to move into the chest. When a baby has CDH, their lungs will be smaller than expected (pulmonary hypoplasia), and will have less developed blood vessels. This causes high blood pressure in the lungs (pulmonary hypertension). […] CDH is one of the most common major congenital anomalies, occurring in 1 of every 2,500 3,000 live births. Newborns affected with CDH will require immediate care at delivery, so early and accurate diagnosis is important. […] Most of the time, CDH is diagnosed during pregnancy. At Childrens Hospital of Philadelphia, we use sophisticated imaging to look at all aspects of the fetus. Liver position and lung size are two of the predictors of how the baby will do.

• #89 Management advances for congenital diaphragmatic hernia: integrating prenatal and postnatal perspectives – Baschat – Translational Pediatrics

  https://tp.amegroups.org/article/view/123659/html

  Once the diagnosis of CDH is suspected and the laterality has been determined the next step is evaluation for associated physical, genetic or syndromic conditions. The presence of any of these findings distinguishes isolated from complex CDH. In almost 50% of fetuses with CDH additional structural abnormalities are identified on prenatal imaging. […] Approximately 40% of prenatally diagnosed CDH cases are associated with other anomalies while 60% are isolated. Mortality of complex CDH is determined by the combined impact of pulmonary hypoplasia and associated physical or genetic abnormalities with expected survival as low as 15%. In isolated CDH determination of defect laterality, prenatal quantification of lung size, degree of liver herniation, and overall mediastinal displacement refines prediction of survival and morbidity. […] The ability to diagnose CDH by prenatal ultrasound and quantify factors that correlate with infant outcome forms the basis of prenatal risk stratification and informs management decisions including the option to undergo fetal treatment when indicated.

• #90 Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative | ADC Fetal & Neonatal Edition

  https://fn.bmj.com/content/109/3/239

  Objective The Canadian Congenital Diaphragmatic Hernia (CDH) Collaborative sought to make its existing clinical practice guideline, published in 2018, into a living document. […] Critical appraisal of CDH literature adhering to Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology. Evidence accumulated between 1 January 2017 and 30 August 2022 was analysed to inform changes to existing or the development of new CDH care recommendations. […] Of the 3868 articles retrieved in our search that covered the 15 areas of CDH care, 459 underwent full-text review. Ultimately, 103 articles were used to inform 20 changes to existing recommendations, which included aspects related to prenatal diagnosis, echocardiographic evaluation, pulmonary hypertension management, surgical readiness criteria, the type of surgical repair and long-term health surveillance.

• #91 Congenital Diaphragmatic Hernia (CDH)

  https://fetus.ucsf.edu/cdh/

  For those families who choose to continue the pregnancy the most important next step is the accurate prenatal diagnosis about the severity of the condition which determines the choices available for prenatal management. […] Babies with CDH should be delivered at a tertiary perinatal center with a high-level intensive care nursery and pediatric surgery. […] The long-term outcome depends on the severity of the CDH and the need for very intensive support. […] How a baby with congenital diaphragmatic hernia recovers after birth is determined by many factors. […] Complications can include: CDH recurrence, respiratory issues, gastrointestinal issues, problems with skeletal development, hearing screening, and developmental delay.

• #92 Congenital Diaphragmatic Hernia (CDH) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-diaphragmatic-hernia-cdh

  Long-term follow-up by a team of experts is important to provide the best clinical care to your child. Childrens Hospital of Philadelphias unique Pulmonary Hypoplasia Program (PHP) provides comprehensive, interdisciplinary follow-up care for children with CDH. […] Most babies with CDH cared for by CHOP meet expected growth and developmental milestones by kindergarten.

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