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Ginekologia Polska 2017Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management.
Topics: Abnormalities, Multiple; Disease Management; Female; Fetal Therapies; Fetoscopy; Fetus; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Pregnancy; Trachea; Ultrasonography, Prenatal
PubMed: 28157247
DOI: 10.5603/GP.a2017.0005 -
Neonatology 2016In 2010, the congenital diaphragmatic hernia (CDH) EURO Consortium published a standardized neonatal treatment protocol. Five years later, the number of participating...
In 2010, the congenital diaphragmatic hernia (CDH) EURO Consortium published a standardized neonatal treatment protocol. Five years later, the number of participating centers has been raised from 13 to 22. In this article the relevant literature is updated, and consensus has been reached between the members of the CDH EURO Consortium. Key updated recommendations are: (1) planned delivery after a gestational age of 39 weeks in a high-volume tertiary center; (2) neuromuscular blocking agents to be avoided during initial treatment in the delivery room; (3) adapt treatment to reach a preductal saturation of between 80 and 95% and postductal saturation >70%; (4) target PaCO2 to be between 50 and 70 mm Hg; (5) conventional mechanical ventilation to be the optimal initial ventilation strategy, and (6) intravenous sildenafil to be considered in CDH patients with severe pulmonary hypertension. This article represents the current opinion of all consortium members in Europe for the optimal neonatal treatment of CDH.
Topics: Clinical Protocols; Consensus; Europe; Expert Testimony; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Infant; Infant, Newborn; Monitoring, Physiologic; Postnatal Care; Practice Guidelines as Topic; Respiration, Artificial; Sildenafil Citrate
PubMed: 27077664
DOI: 10.1159/000444210 -
CMAJ : Canadian Medical Association... Jan 2018
Topics: Canada; Echocardiography; Female; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Infant; Infant, Newborn; Patient Care Team; Pregnancy; Prenatal Diagnosis; Societies, Medical; Ultrasonography, Prenatal
PubMed: 29378870
DOI: 10.1503/cmaj.170206 -
European Journal of Human Genetics :... Dec 2021Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.
Topics: Genetic Testing; Hernia, Diaphragmatic; Humans; Mutation; Vitamin A
PubMed: 34621023
DOI: 10.1038/s41431-021-00972-0 -
Journal of Perinatal Medicine Jan 2023Chronic respiratory morbidity is unfortunately common in childhood, particularly in those born very prematurely or with congenital anomalies affecting pulmonary... (Review)
Review
Chronic respiratory morbidity is unfortunately common in childhood, particularly in those born very prematurely or with congenital anomalies affecting pulmonary development and those with sickle cell disease. Our research group, therefore, has focused on the early origins of chronic respiratory disease. This has included assessing antenatal diagnostic techniques and potentially therapeutic interventions in infants with congenital diaphragmatic hernia. Undertaking physiological studies, we have increased the understanding of the premature baby's response to resuscitation and evaluated interventions in the delivery suite. Mechanical ventilation modes have been optimised and randomised controlled trials (RCTs) with short- and long-term outcomes undertaken. Our studies highlighted respiratory syncytial virus lower respiratory tract infections (LRTIs) and other respiratory viral LRTIs had an adverse impact on respiratory outcomes of prematurely born infants, who we demonstrated have a functional and genetic predisposition to respiratory viral LRTIs. We have described the long-term respiratory outcomes for children with sickle cell disease and importantly identified influencing factors. In conclusion, it is essential to undertake long term follow up of infants at high risk of chronic respiratory morbidity if effective preventative strategies are to be developed.
Topics: Child; Humans; Infant; Anemia, Sickle Cell; Lung; Respiration Disorders; Respiratory Syncytial Virus Infections; Respiratory Tract Infections; Hernias, Diaphragmatic, Congenital
PubMed: 35786507
DOI: 10.1515/jpm-2022-0257 -
Advances in Respiratory Medicine 2019Dyspnoea is most often caused by disorders of the respiratory and/or cardiovascular systems. Much less often it is brought about by the displacement of abdominal organs...
Dyspnoea is most often caused by disorders of the respiratory and/or cardiovascular systems. Much less often it is brought about by the displacement of abdominal organs into the thoracic cage. Hiatal hernias may give rise to diagnostic difficulties, as both clinical and radiological symptoms suggest different disorders. Computed tomography is the method of choice when making a diagnosis. We have presented a series of 7 cases of giant hiatal hernias, each with a varying course of the disease, clinical symptoms, radiological features and prognoses. In two of the cases, the hernias were of a post-traumatic nature. Four cases of large diaphragmatic hernias were found in elderly patients (over 90 years old). An advanced age and numerous coexisting chronic diseases disqualified most of the patients from surgical treatment despite the hernias' large sizes. In only one case was fundoplication performed with a good end result. Two patients died, and an extensive hernia was the cause of one of the deaths. Upper gastrointestinal symptoms were present only in a few of the patients. An early diagnosis of giant hiatal hernia is crucial for the patients to undergo prompt corrective surgeries.
Topics: Aged, 80 and over; Fatal Outcome; Female; Hernia, Hiatal; Herniorrhaphy; Humans; Laparoscopy; Male
PubMed: 30830959
DOI: 10.5603/ARM.a2019.0009 -
World Journal of Emergency Surgery :... Jul 2023Diaphragmatic hernia (DH) presenting acutely can be a potentially life-threatening condition. Its management continues to be debatable. (Review)
Review
BACKGROUND
Diaphragmatic hernia (DH) presenting acutely can be a potentially life-threatening condition. Its management continues to be debatable.
METHODS
A bibliographic search using major databases was performed using the terms "emergency surgery" "diaphragmatic hernia," "traumatic diaphragmatic rupture" and "congenital diaphragmatic hernia." GRADE methodology was used to evaluate the evidence and give recommendations.
RESULTS
CT scan of the chest and abdomen is the diagnostic gold standard to evaluate complicated DH. Appropriate preoperative assessment and prompt surgical intervention are important for a clinical success. Complicated DH repair is best performed via the use of biological and bioabsorbable meshes which have proven to reduce recurrence. The laparoscopic approach is the preferred technique in hemodynamically stable patients without significant comorbidities because it facilitates early diagnosis of small diaphragmatic injuries from traumatic wounds in the thoraco-abdominal area and reduces postoperative complications. Open surgery should be reserved for situations when skills and equipment for laparoscopy are not available, where exploratory laparotomy is needed, or if the patient is hemodynamically unstable. Damage Control Surgery is an option in the management of critical and unstable patients.
CONCLUSIONS
Complicated diaphragmatic hernia is a rare life-threatening condition. CT scan of the chest and abdomen is the gold standard for diagnosing the diaphragmatic hernia. Laparoscopic repair is the best treatment option for stable patients with complicated diaphragmatic hernias. Open repair is considered necessary in majority of unstable patients in whom Damage Control Surgery can be life-saving.
Topics: Humans; Diaphragm; Hernias, Diaphragmatic, Congenital; Tomography, X-Ray Computed; Thorax; Hernia, Hiatal; Thoracic Injuries
PubMed: 37496073
DOI: 10.1186/s13017-023-00510-x -
American Journal of Obstetrics &... Sep 2022Antenatal diagnosis of abnormal pulmonary development has improved significantly over recent years because of progress in imaging techniques. Two-dimensional ultrasound... (Review)
Review
Antenatal diagnosis of abnormal pulmonary development has improved significantly over recent years because of progress in imaging techniques. Two-dimensional ultrasound is the mainstay of investigation of pulmonary pathology during pregnancy, providing good prognostication in conditions such as congenital diaphragmatic hernia; however, it is less validated in other high-risk groups such as those with congenital pulmonary airway malformation or preterm premature rupture of membranes. Three-dimensional assessment of lung volume and size is now possible using ultrasound or magnetic resonance imaging; however, the use of these techniques is still limited because of unpredictable fetal motion, and such tools have also been inadequately validated in high-risk populations other than those with congenital diaphragmatic hernia. The advent of advanced, functional magnetic resonance imaging techniques such as diffusion and T2* imaging, and the development of postprocessing pipelines that facilitate motion correction, have enabled not only more accurate evaluation of pulmonary size, but also assessment of tissue microstructure and perfusion. In the future, fetal magnetic resonance imaging may have an increasing role in the prognostication of pulmonary abnormalities and in monitoring current and future antenatal therapies to enhance lung development. This review aims to examine the current imaging methods available for assessment of antenatal lung development and to outline possible future directions.
Topics: Female; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Lung; Lung Diseases; Lung Volume Measurements; Pregnancy; Prenatal Diagnosis
PubMed: 35858660
DOI: 10.1016/j.ajogmf.2022.100693 -
The New England Journal of Medicine Oct 2017
Topics: Diaphragm; Female; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Radiography, Thoracic
PubMed: 29069554
DOI: 10.1056/NEJMicm1701321 -
World Journal of Emergency Surgery :... 2017Congenital diaphragmatic hernia (CDH) is a congenital abnormality, rare in adults with a frequency of 0.17-6%. Diaphragmatic rupture is an infrequent consequence of... (Review)
Review
BACKGROUND
Congenital diaphragmatic hernia (CDH) is a congenital abnormality, rare in adults with a frequency of 0.17-6%. Diaphragmatic rupture is an infrequent consequence of trauma, occurring in about 5% of severe closed thoraco-abdominal injuries. Clinical presentation ranges from asymptomatic cases to serious respiratory or gastrointestinal symptoms. Diagnosis depends on anamnesis, clinical signs and radiological investigations.
METHODS
From May 2013 to June 2016, six cases (four females, two males; mean age 58 years) of diaphragmatic hernia were admitted to our Academic Department of General Surgery with respiratory and abdominal symptoms. Chest X-ray, barium studies and CT scan were performed.
RESULTS
Case 1 presented left diaphragmatic hernia containing transverse and descending colon. Case 2 showed left CDH which allowed passage of stomach, spleen and colon. Case 3 and 6 showed stomach in left hemithorax. Case 4 presented left diaphragmatic hernia which allowed passage of the spleen, left lobe of liver and transverse colon. Case 5 had stomach and spleen herniated into the chest. Emergency surgery was always performed. The hernia contents were reduced and defect was closed with primary repair or mesh. In all cases, post-operative courses were uneventful.
CONCLUSION
Overlapping abdominal and respiratory symptoms lead to diagnosis of diaphragmatic hernia, in patients with or without an history of trauma. Chest X-ray, CT scan and barium studies should be done to evaluate diaphragmatic defect, size, location and contents. Emergency surgical approach is mandatory reducing morbidity and mortality.
Topics: Aged; Barium Sulfate; Diaphragm; Female; Hernia, Diaphragmatic, Traumatic; Hernias, Diaphragmatic, Congenital; Humans; Intestinal Obstruction; Male; Middle Aged; Radiography; Rupture; Tomography, X-Ray Computed
PubMed: 28529538
DOI: 10.1186/s13017-017-0134-5