Long-term follow-up in congenital diaphragmatic hernia.

With improvements in initial care for patients with congenital diaphragmatic hernia (CDH), the number of CDH patients with severe disease who are surviving to discharge has increased. This growing population of patients faces a unique set of long-term challenges, multisystem adverse outcomes, and post-intervention complications requiring specialized multidisciplinary follow-up. Early identification and intervention are essential to mitigate the potential morbidity associated with these challenges. This manuscript outlines a general framework for long-term follow-up for the CDH patient, including cardiopulmonary, gastrointestinal, neurodevelopmental, surgical, and quality of life outcomes.

Prenatal diagnostic and intervention considerations in congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect with significant morbidity and mortality. The prenatal management of a pregnancy with a fetus affected with CDH is complex and requires a multi-disciplinary team approach. An improved understanding of prenatal diagnosis and management is essential to developing strategies to optimize outcomes for these patients. In this review, we explore the current knowledge on diagnosis, severity stratification, prognostic prediction, and indications for fetal intervention in the fetus with CDH.

Cardiac function in congenital diaphragmatic hernia.

Cardiac function is known to play critical role in the pathophysiological progression and ultimate clinical outcome of patients with congenital diaphragmatic hernia (CDH). While often anatomically normal, the fetal and neonatal heart in CDH can suffer from both right and left ventricular dysfunction. Here we explore the abnormal fetal heart, early postnatal right and left ventricular dysfunction, the interplay between cardiac dysfunction and pulmonary hypertension, evaluation and echocardiographic assessment of the heart, and therapeutic strategies for managing and supporting the pathophysiologic heart and CDH. Further, we take a common clinical scenario and provide clinically relevant guidance for the diagnosis and management of this complex process.

Right-sided Morgagni diaphragmatic hernia presenting as isolated left shoulder pain.

A woman in her 60s presented to the emergency department with excruciating, deep left shoulder pain and was found to have a right-sided Morgagni hernia, a rare type of congenital diaphragmatic hernia (CDH). She did not have chest pain, palpitations, shortness of breath, cough, abdominal pain, constipation, diarrhoea, nausea, vomiting or other symptoms classically associated with CDHs in adults. Laparoscopic robotic-assisted repair with mesh placement was performed, and the patient's recovery was uncomplicated, with no recurrence of shoulder pain. Our patient's presentation was unusual due to the absence of symptoms typically seen with CDHs in adults, and the presence of contralateral, left-sided shoulder pain with a right-sided Morgagni hernia.

Acute respiratory distress following an otherwise normal, uneventful, screening colonoscopy.

A 62-year-old man with a past history of sleep apnea syndrome, umbilical and left inguinal hernia repairs, was referred to the emergency room for acute respiratory distress. He had underwent a screening colonoscopy 12 h earlier for a family history of colonic adenoma. This colonoscopy was complete, normal, and uneventful. A plain chest X-ray showed a distended colon extending to the upper third of the right side of the chest (Fig. 1). Further anamnesis helped the patient to remember a right diaphragmatic hernia, well-documented by CT-scan years ago. He had not previously mentioned this condition, when evaluated for colon screening. The patient was admitted to the surgical intensive care unit. A CT-scan confirmed a right diaphragmatic hernia with terminal ileum and ascending colon content, no sign of mesenteric ischemia, and massive pulmonary collapse. Conservative treatment with nasogastric suction quickly improved the patient's condition. He was discharged at day-6. Diaphragmatic hernia repair was scheduled 10 weeks later. Laparoscopy showed a complete agenesis of the right diaphragmatic dome (Fig. 2; Fig. 3), and was therefore converted into laparotomy for complete surgical repair. Postoperative course was unremarkable. Patient was discharged on day-6. Follow-up at 1 month was uneventful. Congenital diaphragmatic hernias are rare and usually diagnosed in the pre- natal period or in neonates with respiratory distress, calling for emergency neonatal repair [1,2]. In underdiagnosed or neglecting adults, the condition can be life-threatening, as seen in our patient [3,4]. Surgical repair is therefore strongly recommended, even in asymptomatic patients [5]. Recurrences are exceptional.

Bias in the prenatal lung measurements in fetal congenital diaphragmatic hernia with intrauterine growth restriction.

OBJECTIVES: The failure of a fetus to develop to its full potential due to maternal or placental factors is known as intrauterine growth restriction (IUGR). Fetal head growth is usually preserved in that situation producing a potential discordance between head and body size. Our goal is to discover if IUGR has an impact on the prenatal ultrasound measurements taken to assess pulmonary development in congenital diaphragmatic hernia (CDH). METHODS: A retrospective chart review (IRB#2017-6361) was performed on all prenatally diagnosed CDH patients from 2007 to 2016. Patient demographics, fetal and neonatal anthropometric measurements, and fetal lung parameters were the main subjects of the data that were gathered. Fetal growth was assessed by the curves based on US data by Olsen et al. and by Peleg et al. Of 147 CDH patients, 19 (12.9 %) patients were diagnosed with IUGR before the 30th gestational week while there were 20 (13.6 %) patients after the 30th gestational week. RESULTS: Patients with IUGR and the observed-to-expected lung-to-head ratio (O/E LHR) less than 25 % had better survival rates both to discharge and date compared to non IUGR group (p=0.226, OR 2.25 95 % CI 0.60-1.08 and p=0.175, OR 2.40 95 % CI 0.66-1.17, respectively). Moreover, the ECMO need of the patients who had IUGR and O/E LHR less than 25 % was significantly less than the patients without IUGR (38.5 vs. 80.0 %, p=0.005). CONCLUSIONS: This study confirms that the intrauterine measurements to predict pulmonary hypoplasia in CDH patients are misleading in the presence of IUGR and cause an overestimation.

Unmasking a hidden culprit: late-presenting congenital diaphragmatic hernia beyond infancy: A case report and literature review.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly with abnormal diaphragm development, typically diagnosed prenatally or soon after birth. Late-presenting CDH presents diagnostic challenges due to nonspecific symptoms that can lead to misdiagnoses. METHODS: This report discusses a 35-month-old female initially presenting with predominant gastrointestinal symptoms and minimal respiratory distress. Initial radiographic findings suggested a left tension pneumothorax, prompting further investigation. RESULTS: Subsequent diagnostic efforts revealed a Bochdalek-type left CDH, with several abdominal organs herniated into the thoracic cavity. The case was managed through laparotomy, where herniated contents were successfully repositioned into the abdominal cavity. This intervention underscores the need for high clinical suspicion and the importance of distinguishing between similar presentations, such as tension pneumothorax and tension gastrothorax, which require different management strategies. CONCLUSION: The case illustrates the importance of considering CDH in differential diagnoses for older pediatric patients with atypical symptoms. Early recognition and appropriate management are key to improving patient outcomes.

Exploring new perspectives on congenital diaphragmatic hernia: A comprehensive review.

Congenital diaphragmatic hernia (CDH) represents a developmental anomaly that profoundly impacts the embryonic development of both the respiratory and cardiovascular systems. Understanding the influences of developmental defects, their origins, and clinical consequences is of paramount importance for further research and the advancement of therapeutic strategies for this condition. In recent years, groundbreaking studies in the fields of metabolomics and genomics have significantly expanded our knowledge regarding the pathogenic mechanisms of CDH. These investigations introduce novel diagnostic and therapeutic avenues. CDH implies a scarcity of available information within this domain. Consequently, a comprehensive literature review has been undertaken to synthesize existing data, providing invaluable insights into this rare disease. Improved comprehension of the molecular underpinnings of CDH has the potential to refine diagnostic precision and therapeutic interventions, thus potentially enhancing clinical outcomes for CDH patients. The identification of potential biomarkers assumes paramount significance for early disease detection and risk assessment in CDH, facilitating prompt recognition and the implementation of appropriate interventions. The process of translating research findings into clinical practice is significantly facilitated by an exhaustive literature review. It serves as a pivotal step, enabling the integration of novel, more effective diagnostic and therapeutic modalities into the management of CDH patients.

Multicentre, randomised controlled trial of physiological-based cord clamping versus immediate cord clamping in infants with a congenital diaphragmatic hernia (PinC): statistical analysis plan.

BACKGROUND: Infants born with congenital diaphragmatic hernia (CDH) are at high risk of respiratory insufficiency and pulmonary hypertension. Routine practice includes immediate clamping of the umbilical cord and endotracheal intubation. Experimental animal studies suggest that clamping the umbilical cord guided by physiological changes and after the lungs have been aerated, named physiological-based cord clamping (PBCC), could enhance the fetal-to-neonatal transition in CDH. We describe the statistical analysis plan for the clinical trial evaluating the effects of PBCC versus immediate cord clamping on pulmonary hypertension in infants with CDH (PinC trial). DESIGN: The PinC trial is a multicentre, randomised controlled trial in infants with isolated left-sided CDH, born ≥ 35.0 weeks of gestation. The primary outcome is the incidence of pulmonary hypertension in the first 24 h after birth. Maternal outcomes include estimated maternal blood loss. Neonatal secondary outcomes include mortality before discharge, extracorporeal membrane oxygenation therapy, and number of days of mechanical ventilation. Infants are 1:1 randomised to either PBCC or immediate cord clamping using variable random permutated block sizes (4-8), stratified by treatment centre and estimated severity of pulmonary hypoplasia (i.e. mild/moderate/severe). At least 140 infants are needed to detect a relative reduction in pulmonary hypertension by one third, with 80% power and 0.05 significance level. A chi-square test will be used to evaluate the hypothesis that PBCC decreases the occurrence of pulmonary hypertension. This plan is written and submitted without knowledge of the collected data. The trial has been ethically approved. TRIAL REGISTRATION: ClinicalTrials.gov NCT04373902 (registered April 2020).

The Association of Prenatal Diagnoses with Mortality and Long-Term Morbidity in Children with Specific Isolated Congenital Anomalies: A European Register-Based Cohort Study.

OBJECTIVES: To compare 5-year survival rate and morbidity in children with spina bifida, transposition of great arteries (TGA), congenital diaphragmatic hernia (CDH) or gastroschisis diagnosed prenatally with those diagnosed postnatally. METHODS: Population-based registers' data were linked to hospital and mortality databases. RESULTS: Children whose anomaly was diagnosed prenatally (n = 1088) had a lower mean gestational age than those diagnosed postnatally (n = 1698) ranging from 8 days for CDH to 4 days for TGA. Children with CDH had the highest infant mortality rate with a significant difference (p < 0.001) between those prenatally (359/1,000 births) and postnatally (116/1,000) diagnosed. For all four anomalies, the median length of hospital stay was significantly greater in children with a prenatal diagnosis than those postnatally diagnosed. Children with prenatally diagnosed spina bifida (79% vs 60%; p = 0.002) were more likely to have surgery in the first week of life, with an indication that this also occurred in children with CDH (79% vs 69%; p = 0.06). CONCLUSIONS: Our findings do not show improved outcomes for prenatally diagnosed infants. For conditions where prenatal diagnoses were associated with greater mortality and morbidity, the findings might be attributed to increased detection of more severe anomalies. The increased mortality and morbidity in those diagnosed prenatally may be related to the lower mean gestational age (GA) at birth, leading to insufficient surfactant for respiratory effort. This is especially important for these four groups of children as they have to undergo anaesthesia and surgery shortly after birth. Appropriate prenatal counselling about the time and mode of delivery is needed.

Study protocol for a randomised cross-over trial of Neurally adjusted ventilatory Assist for Neonates with Congenital diaphragmatic hernias: the NAN-C study.

BACKGROUND: Neurally adjusted ventilatory assist (NAVA) is a mode of mechanical ventilation that delivers oxygen pressures in proportion to electrical signals of the diaphragm. The proportional assistance can be adjusted by the clinician to reduce the patient's work of breathing. Several case series of infants with congenital diaphragmatic hernias (CDH) have shown that NAVA may reduce oxygenation index and mean airway pressures. To date, no clinical trial has compared NAVA to standard methods of mechanical ventilation for babies with CDH. METHODS: The aim of this dual-centre randomised cross-over trial is to compare post-operative NAVA with assist control ventilation (ACV) for infants with CDH. If eligible, infants will be enrolled for a ventilatory support tolerance trial (VSTT) to assess their suitability for randomisation. If clinically stable during the VSTT, infants will be randomised to receive either NAVA or ACV first in a 1:1 ratio for a 4-h period. The oxygenation index, respiratory severity score and cumulative sedative medication use will be measured. DISCUSSION: Retrospective studies comparing NAVA to ACV in neonates with congenital diaphragmatic hernia have shown the ventilatory mode may improve respiratory parameters and benefit neonates. To our knowledge, this is the first prospective cross-over trial comparing NAVA to ACV. TRIAL REGISTRATION: NAN-C was prospectively registered on ClinicalTrials.gov NCT05839340  Registered on May 2023.

Bochdalek Hernia Causing Sigmoid Colon Strangulation in an Elderly Patient.

Diaphragmatic hernia with bowel strangulation is a fatal condition requiring a prompt diagnosis. Bochdalek hernia is a common type of diaphragmatic hernia that rarely but occasionally occurs in adults. We herein report a case of Bochdalek hernia causing sigmoid colon strangulation in an elderly patient whose condition was initially misdiagnosed as empyema. The early diagnosis of strangulated bowel stemming from diaphragmatic hernia can be challenging because of its rarity and the nonspecificity of its symptoms. However, tracing the mesenteric arteries on computed tomography can enable a quick diagnosis.

Fetoscopic endoluminal tracheal occlusion vs expectant management for fetuses with severe left-sided congenital diaphragmatic hernia.

BACKGROUND: The treatment of fetuses with a congenital diaphragmatic hernia is challenging, but there is evidence that fetoscopic endoluminal tracheal occlusion has a benefit over expectant care. In addition, standardization and expertism have a great impact on survival and are probably crucial in centers that rely on expectant management with extracorporeal membrane oxygenation after birth. OBJECTIVE: This study aimed to examine the survival and morbidity rates of fetuses with a severe isolated left-sided congenital diaphragmatic hernia who underwent fetoscopic endoluminal tracheal occlusion vs expectant management in high-volume centers. STUDY DESIGN: This was a multicenter, retrospective study that included all consecutive fetuses with severe isolated left-sided congenital diaphragmatic hernia who were expectantly managed in a German center or who underwent fetoscopic endoluminal tracheal occlusion in 3 other European centers (Belgium, France, and Italy). Severe congenital diaphragmatic hernia was defined as having an observed to expected total fetal lung volume ≤35% with intrathoracic position of the liver diagnosed with magnetic resonance imaging. All magnetic resonance images were centralized, and lung volumes were measured by 2 experienced operators who were blinded to the pre- and postnatal data. Multiple logistic regression analyses were performed to examine the effect of the management strategy in the 2 groups on the short- and long-term outcomes. RESULTS: A total of 147 patients who were managed expectantly and 47 patients who underwent fetoscopic endoluminal tracheal occlusion were analyzed. Fetuses who were managed expectantly had lower observed to expected total fetal lung volumes (20.6%±7.5% vs 23.7%±6.8%; P=.013), higher gestational age at delivery (median weeks of gestation, 37.4; interquartile range, 36.6-38.00 vs 35.1; interquartile range, 33.1-37.2; P<.001), and more frequent use of extracorporeal membrane oxygenation (55.8% vs 4.3%; P<.001) than the fetuses who underwent fetoscopic endoluminal tracheal occlusion. The survival rates at discharge and at 2 years of age in the expectant management group were higher than the survival rates of the fetoscopic endoluminal tracheal occlusion group (74.3% vs 44.7%; P=.001 and 72.8% vs 42.5%; P=.001, respectively). After adjustment for maternal age, gestational age at birth, observed to expected total fetal lung volume, and birth weight Z-score, the odds ratios were 4.65 (95% confidence interval, 1.9-11.9; P=.001) and 4.37 (95% confidence interval, 1.8-11.0; P=.001), respectively. CONCLUSION: Fetuses with a severe isolated left-sided congenital diaphragmatic hernia had a higher survival rate when treated in an experienced center in Germany with antenatal expectant management and frequent use of extracorporeal membrane oxygenation during the postnatal period than fetuses who were treated with fetoscopic endoluminal tracheal occlusion in 3 centers in Belgium, France, and Italy.

[Characteristics and Outcome of Neonates With Postnatally Diagnosed Congenital Diaphragmatic Hernia]. / Charakteristika und Outcomedaten von Neugeborenen mit pränatal nicht diagnostizierter angeborener Zwerchfellhernie.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is one of the most severe neonatal malformations with a mortality of 20-35%. Currently, the rate of prenatally recognized CDHs is 60-80%. This study investigated the characteristics and outcome data of children with prenatally unrecognized CDH. METHODS: Postnatally diagnosed CDH newborns treated at the University Hospital Bonn between 2012 and 2021 were included. Treatment and outcome data were compared according to type of maternity hospital, Apgar values, and between prenatally and postnatally diagnosed CDH. RESULTS: Of 244 CDH newborns, 22 were included. Comparison for birth in a facility with vs. without pediatric care showed for mortality: 9% vs. 27%, p=0.478; ECMO rate: 9% vs. 36%, p=0.300; age at diagnosis: 84 vs. 129 min, p=0.049; time between intubation and diagnosis: 20 vs. 86 min, p=0.019. Newborns in the second group showed significantly worse values for pH and pCO2. Furthermore, there was a tendency for higher mortality and ECMO rates in children with an Apgar score<7 vs.≥7. Children diagnosed postnatally were significantly more likely to have moderate or severe PH and tended to have cardiac dysfunction more often than those diagnosed prenatally. DISCUSSION: In our cohort, ca. one in 10 newborns received a postnatal CDH diagnosis. Birth in a facility without pediatric care is associated with later diagnosis, which may favor hypercapnia/acidosis and more severe pulm.

Hydrothorax and air fluid levels in the right chest - a diagnostic dilemma.

SUMMARY: A diaphragmatic defect that permits abdominal contents to herniate into the right side of the chest is rare. In adults with right-sided diaphragmatic hernias, few occur without a history of trauma, and even fewer are symptomatic. This case report illustrates such a case and the rare entity of an anterolaterally located hernia. Although uncommon and easily missed, consequences of diaphragmatic hernias can be disastrous. The importance of a combination of high clinical suspicion and the use of computed tomography (CT) to aid diagnosis, and the dangers of a surgical condition being incorrectly assessed and admitted to a non-surgical specialty are highlighted in this case.

From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age.

We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.

Post-operative anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery.

Morgagni hernias account for less than 5% of congenital diaphragmatic hernias. They are characteristically retrosternal and bilateral, with right-sided predominance. An association between Trisomy 21 and diaphragmatic hernias resembling Morgagni hernia has been reported, but the effect of cardiac surgery on its formation has not been investigated. The purpose of this study was to determine whether there is a higher incidence of anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery. We compared the prevalence of anterior diaphragmatic hernias in 92 patients with Trisomy 21 who underwent cardiac surgery with its prevalence in 100 children without Trisomy 21 who underwent cardiac surgery. All available CXRs of all children underwent revision for the presence of an anterior diaphragmatic hernia by a pediatric radiologist. Within the study group, four cases of an anterior diaphragmatic hernia were detected, all upon presentation to the emergency room due to breathing difficulties. No cases of an anterior diaphragmatic hernia were found in the control group (P = 0.0094). CONCLUSIONS: A high index of suspicion for an anterior diaphragmatic hernia should be maintained in children with Trisomy 21 who have undergone cardiac surgery and present with breathing difficulty. If CXR findings are uncertain, UGI series and\or CT should be performed. In light of our findings, the surgical technique has been modified in patients with DS in our medical center. WHAT IS KNOWN: • Several studies reported an association between Trisomy 21 and diaphragmatic hernia resembling Morgagni hernia, but the effect of cardiac surgery on its formation has not been investigated. WHAT IS NEW: • There is a higher incidence of anterior diaphragmatic hernia resembling a Morgagni hernia in children with Trisomy 21 after cardiac surgery. • A high index of suspicion for an anterior diaphragmatic hernia should be maintained in children with Trisomy 21 who have undergone cardiac surgery and present with breathing difficulty. If CXR findings are uncertain, UGI series and\or CT should be performed.