Cases Of Congenital Diaphragmatic Hernia Research Articles

Hydrops and congenital diaphragmatic hernia: reported incidence and postnatal outcomes. Analysis of the congenital diaphragmatic hernia study group registry.

Congenital Diaphragmatic Hernia (CDH) associated with hydrops is rare. The aim of this study was to describe the incidence of this combination of anomalies and the postnatal outcomes from a large database for CDH. Data from the multicenter, multinational database on infants with prenatally diagnosed CDH (CDHSG Registry) born from 2015 to 2021 were analyzed. A total of 3985 patients were entered in the registry during the study period, 3156 were prenatally diagnosed and 88 were reported to have associated fluid in at least 1 compartment, representing 2.8% of all prenatally diagnosed CDH cases in the registry. The overall survival to discharge for CDH patients with hydrops was 43%. The hydropic CDH group had lower birth weight and gestational age at birth, and increased incidence of right-sided CDH (55%), and rate of non-repair (45%). However, the survival rate for hydropic infants with CDH undergoing surgical repair was 80%. Other associated anomalies were more common in hydropic CDH (50% vs 37%, p = 0.001). Hydropic CDH is rare, only 2.8% of all prenatally diagnosed cases, and more commonly occurring in right-sided CDH. Survival rates are low, with higher rates of non-repair. However, decision-making regarding goals of care and an aggressive surgical approach in selected cases may result in survival rates comparable to non-hydropic cases.

Risk factors and outcome of antenatally diagnosed congenital diaphragmatic hernia following in-utero transfer in a busy public-sector tertiary care center in North India.

We analyzed the risk factors and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) from a tertiary-care children's hospital following in-utero transfer. A total of 41 antenatally detected cases of CDH were included; 30 were live-born and 11 were still-born. The primary outcome was postnatal survival. The secondary outcome was the probable factor affecting survival. No medical termination of the pregnancy was done. The mean gestational age at diagnosis was 23 weeks. The diagnostic accuracy of antenatal ultrasonography was 40/41 (97.5%). Lung-to-head ratio (LHR) was <1 in 20 cases (survived 2), LHR was >1 in 10 cases (survived 8), and LHR was not recorded in 11 cases (survived 4). Overall survival was 14/41 (34.1%). Survival in fetuses with polyhydramnios was 0% (n=3; survived 0), associated anomalies were 33.3% (n=3; survived 1), and liver herniation was 22.2% (n=9; survived 2). Postnatally, significant risk factors included a low Apgar score, the need for ventilation, and neonatal intensive care unit (NICU) management. Survival in live-born cases was 14/30 (46.6%) and in operated cases was 14/19 (73.6%). We concluded that antenatal ultrasound had a high accuracy rate for detecting CDH. Antenatal risk factors affecting outcomes were low LHR, maternal polyhydramnios, liver herniation, and associated malformations. Postnatal risk factors included a low Apgar score, NICU admission, and a need for ventilation. The overall survival rate, as well as the survival rates for live-borns and those undergoing surgery, were 34.1%, 46.6%, and 73.6%, respectively. This data will guide clinicians in counseling the families of antenatally diagnosed CDH.

Pleural Effusion and Chylothorax in Congenital Diaphragmatic Hernia-Risk Factors, Management and Outcome.

Background: Pleural effusion and chylothorax are common complications in the treatment of congenital diaphragmatic hernia (CDH). We set out to identify risk factors for chylothorax development in patients with CDH and to investigate the association of pleural effusion and chylothorax with neonatal morbidity and mortality. Methods: In this retrospective cohort study, we included 396 neonates with CDH treated at our institution between January 2013 and June 2019. Preoperative and postoperative chest radiographs and clinical data were evaluated and correlated with morbidity, complications and mortality. Results: Laboratory-confirmed chylothorax occurred in 58 (18.6%) of all CDH cases. Pleural effusion was frequently observed as a postoperative complication but also occurred as a pre-existing condition. Neonates with large defects of size C and D, patch repair, the need for presurgical and/or postsurgical ECMO support, pulmonary hypertension, liver-up phenomenon and lower relative fetal lung volume were associated with higher occurrences of chylothorax. After stepwise logistic regression, larger CDH defects (p < 0.0001) and the need for postsurgical ECMO (p = 0.0158) remained significant risk factors for CTX to occur (AUC 0.71). The same potential risk factors were used to assess their association with both presurgical and postsurgical pleural effusion. After stepwise logistic regression, only the need for presurgical ECMO remained significantly associated with presurgical PE (p < 0.01, AUC 0.65) and patch repair as the therapeutic intervention remained significantly associated with the occurrence of postsurgical PE (p < 0.0001, AUC 0.80). Patients with CTX had longer durations of both MV (p < 0.0001) and subsequent ventilatory assistance with spontaneous breathing (p = 0.0004), increased total lengths of hospitalization (p < 0.0001), increased durations of ECMO (p < 0.01) and increased incidences of CLD (p < 0.0001) compared to patients without CTX. No significant difference could be found for survival in both groups (p = 0.12). Conclusions: Our data suggest that the incidence of chylothorax is associated with large diaphragmatic defects, the need for postsurgical ECMO and the development of chronic lung disease, but not with survival.

Thoracic Biometry in Patients with Congenital Diaphragmatic Hernia, a Magnetic Resonance Imaging Study.

This is a retrospective study investigating biometric measurements using magnetic resonance imaging (MRI) examinations in congenital diaphragmatic hernia (CDH). CDH is one of the more common causes of pulmonary hypoplasia, with grave consequences for the fetus. Inclusion criteria were patients diagnosed with CDH as the only observed anomaly, who underwent MRI examination after the second-trimester morphology ultrasound. The patients came from three university hospitals in Bucharest, Romania. In total, 19 patients were included in the study after applying exclusion criteria. Comparing the observed values of the thoracic transverse diameter, the thoracic anterior-posterior diameter, the thoracic circumference, the thoracic area, and the thoracic volume with values from the literature, we observed a predictive alteration of these parameters, with most showing Gaussian distribution. We observed statistical significance for most of our correlations, except between the observed and expected thoracic anterior-posterior diameters and the observed and expected thoracic volume values. This is very helpful when complex studies that can calculate the pulmonary volume cannot be obtained, as in the case of movement artifacts, and allows the clinicians to better assess the severity of the disease. MRI follow-up in CDH cases is a necessity, as it offers the most accurate thoracic biometry.

Case Report: Congenital diaphragmatic hernia in one twin followed by ex-utero intrapartum treatment (EXIT) procedure: Pearls &amp; pitfalls

Cases of congenital diaphragmatic hernia (CDH) in one twin have been reported rarely. This study aimed to report a rare case while also analyzing the pearls and pitfalls in diagnosing and managing this case. A 32-year-old multiparous woman referred to a tertiary hospital with multiple pregnancies and suspected CDH on the 1st baby. The patient underwent further investigation and the first fetus had a severe CDH on the left side. The second fetus was in a transverse lie and no other abnormalities were found. The babies were delivered through caesarean section and the first baby underwent the ex-utero intrapartum treatment (EXIT) procedure without prior antepartum fetal therapy. A large defect measuring 7.5 x 6 centimeters on the left side (Bochdalek type) was found in the first baby during surgery to make repairs. The baby died the next day due to some complications from the previous repair. As a pearl of this case, prenatal diagnosis and multidisciplinary approach hold pivotal roles. In prenatal imaging, CDH is distinguished by the visualization of thorax filled with abdominal contents and the mediastinal shifting from the defect to the contralateral side. EXIT procedures could be performed after the baby with CDH is delivered and the infant will still require post-natal surgical repair and its success rate depends on many factors. In conclusion, proper prenatal diagnosis with ultrasound evaluation from the second trimester, close and regular maternal-fetal monitoring, prenatal intervention, intrapartum ultrasound guidance, and post-natal procedures are all critical.

Ultrasonographic measurement of mediastinal shift angle for the prediction of postnatal survival in fetuses with isolated left congenital diaphragmatic hernia.

The main objective of the study was to determine if ultrasonographic measurement of mediastinal shift angle (MSA) can predict postnatal survival in fetuses with isolated left congenital diaphragmatic hernia (CDH). This relatively new technique may be used to enhance antenatal prediction of survival in fetuses with CDH. A retrospective cross-sectional study was conducted at the Philippine Children's Medical Center involving 16 cases with prenatally diagnosed isolated left CDH and 60 controls with normal fetuses. The cases with prenatally diagnosed isolated left CDH were allocated into two groups: Group A (survivors) and group B (non-survivors). For all fetuses (study and control groups), MSA was determined independently by two operators. The diagnostic capacity of MSA was assessed using the receiver operating characteristic curve. The mean MSA for the control group was 17.18°. Among CDH cases, the mean MSA was 33.04° and 37.57° for survivors and non-survivors, respectively. Results showed that MSA significantly predicted the probability of neonatal survival status (OR = 0.46, P = 0.021). The best cutoff score of MSA based on the receiver operating characteristic curve was 33.80° with 87.50% sensitivity and specificity. MSA has the potential to enhance antenatal prediction of survival in fetuses with CDH and may serve as a guide in prenatal counseling and evaluation of the need for in-utero treatment or postnatal procedures.

Epidemiology of congenital diaphragmatic hernia among 24 million Chinese births: a hospital-based surveillance study

Abstract Background The prevalence of congenital diaphragmatic hernia (CDH) varies across countries, with limited information available on its epidemiology in China. Our study aimed to investigate the prevalence, time trends, and perinatal outcomes of CDH in China, as well as its associated malformations and potential associations with maternal and infant characteristics. Methods This study included all birth and CDH cases from the Chinese Birth Defects Monitoring Network between 2007 and 2019, with CDH cases classified as either isolated or associated. We employed the joinpoint regression model to calculate the trends of prevalence and the annual percent change, with Poisson regression used for adjusted prevalence rate ratios. A P value ≤ 0.05 was considered statistically significant. Results A total of 4397 CDH cases were identified among 24,158,029 births in the study period, yielding prevalence rates of 1.82, 1.13 and 0.69 per 10,000 for overall, isolated, and associated CDH, respectively. The prevalence of each type of CDH increased over time. The prevalence of overall CDH varied significantly by infant sex (male vs. female, 1.91/10,000 vs. 1.63/10,000), maternal residence (urban vs. rural, 2.13/10,000 vs. 1.45/10,000), maternal age (&lt; 20 years, 1.31/10,000; 20–24 years, 1.63/10,000; 25–29 years, 1.80/10,000; 30–34 years, 1.87/10,000; ≥ 35 years, 2.22/10,000), and geographic region (central, 1.64/10,000; east, 2.45/10,000; west, 1.37/10,000). Cardiovascular anomalies were the most common malformations associated with CDH. Infants with associated CDH had a higher risk of premature birth and perinatal death than those with isolated CDH. Conclusion The increasing prevalence and high perinatal mortality rate of CDH highlight the need for further etiological, epidemiological, and clinical studies among the Chinese population.

Fetal surgery using fetoscopic endoluminal tracheal occlusion for severe congenital diaphragmatic hernia: a single-center experience.

To provide a comprehensive report of the experience gained in the prenatal treatment of congenital diaphragmatic hernia (CDH) using fetoscopic endoluminal tracheal occlusion (FETO) following its implementation at a newly established specialized fetal medicine center. Mothers of fetuses with severe CDH were offered prenatal treatment by FETO. Between 2018 and 2021, 16 cases of severe CDH underwent FETO. The median gestational age (GA) at balloon insertion was 28.4 weeks (IQR 27.8-28.6). The median GA at delivery was 37 weeks (IQR 34.4-37.8). The survival rate was 8/16 cases (50%). None of the survivors required home oxygen therapy at 6 months of age. Comparison between the survivors and deceased showed that survivors had balloon insertion 1 week earlier (27.8 vs. 28.4 weeks, p = 0.007), a higher amniotic fluid level change between pre- to post-FETO (3.4 vs 1.3, p = 0.024), a higher O/E LHR change between pre- to post-FETO (50.8 vs. 37.5, p = 0.047), and a GA at delivery that was 2 weeks later (37.6 vs. 35.4 weeks, p = 0.032). The survival rate at 6 months of age in cases of severe CDH treated with FETO in our center was 50%. Our new fetal medicine center matches the performance of other leading international centers.

Human Bocavirus infection in childhood acute respiratory infection: Is it an innocent bystander?

PurposeAcute respiratory infection (ARI) is one of the major attributing factors of under-five mortality and morbidity all over the world. Viruses are the most common cause of ARI. Due to the availability of molecular techniques, new viruses are getting isolated from children with ARI. With the above background, the present study was conducted to enlighten on the pathogenic role of human bocavirus (HBoV) in children with ARI. MethodologyThis retrospective study was conducted over a period of >3 years duration. The clinical and laboratory data of the patients with signs and symptoms of ARI were retrieved and analyzed. Clinical profiles and outcome of the patients detected of having HBoV mono or co-infections were further analyzed in details. ResultsA total of 237 respiratory samples were subjected to respiratory panel by fast track diagnosis (FTD) multiplex polymerase chain reaction (multiplex PCR), of which 10 samples (mono-infection ​= ​4) were detected with the presence of HBoV. The clinical details of 8 cases were studied in details (details of rest 2 cases were missing). All the children were less than 3 years of age, with different co-morbid conditions such as low birth weight (n ​= ​4), cholestatic jaundice (n ​= ​1), operated case of congenital diaphragmatic hernia (n ​= ​1), pancytopenia (n ​= ​1), and primary immune deficiency (n ​= ​1). Their clinical course did not improve following antibiotic administration, 2 succumbed to death while the rest 6 cases were discharged. ConclusionThe present study highlights the fact that HBoV may not be an innocent bystander in the childhood ARI. Larger studies employing appropriate diagnostic modalities are needed to emboss it as a true pathogen and not merely a bystander.

Pathological findings in congenital diaphragmatic hernia on necropsy studies: A single-center case series.

Congenital diaphragmatic hernia (CDH) is associated with high mortality rates and significant pulmonary morbidities. The objective of this study was to delineate the histopathological features observed in necropsies of CDH patients and correlate these with their clinical manifestations. We retrospectively reviewed the postmortem findings and corresponding clinical characteristics in eight CDH cases from 2017 to July 2022. The median survival time was 46 (8-624) hours. Autopsy reports showed that diffuse alveolar damage (congestion and hemorrhage) and hyaline membrane formation were the primary pathological lung changes observed. Notably, despite significant reduction in lung volume, the lung development appeared normal in 50% of the cases, while lobulated deformities were present in three (37.5%) cases. All patients displayed a large patent ductus arteriosus (PDA) and a patent foramen ovale, resulting in increased right ventricle (RV) volume, and myocardial fibers appeared slightly congested and swollen. The pulmonary vessels indicated thickening of the arterial media and adventitia. Lung hypoplasia and diffuse lung damage resulted in impaired gas exchange, while PDA and pulmonary hypertension led to RV failure, subsequent organ dysfunction and ultimately death. Patients with CDH typically succumb to cardiopulmonary failure, a condition driven by a complex interplay of pathophysiological factors. This complexity accounts for the unpredictable response to currently available vasodilators and ventilation therapies.

Dynamics of pulmonary hypertension severity in the first 48 h in neonates with prenatally diagnosed congenital diaphragmatic hernia.

Pulmonary hypertension (PH) is one of the major contributing factors to the high morbidity and mortality in neonates with congenital diaphragmatic hernia (CDH). The severity and duration of postnatal PH are an established risk factor for patient outcome; however, the early postnatal dynamics of PH have not been investigated. This study aims to describe the early course of PH in CDH infants, and its relation to established prognostic markers and outcome measures. We performed a monocentric retrospective review of neonates with prenatally diagnosed CDH, who received three standardized echocardiographic examinations at 2-6 h, 24, and 48 h of life. The degree of PH was graded as one of three categories: mild/no, moderate, or severe PH. The characteristics of the three groups and their course of PH over 48 h were compared using univariate and correlational analyses. Of 165 eligible CDH cases, initial PH classification was mild/no in 28%, moderate in 35%, and severe PH in 37%. The course of PH varied markedly based on the initial staging. No patient with initial no/mild PH developed severe PH, required extracorporeal membrane oxygenation (ECMO)-therapy, or died. Of cases with initial severe PH, 63% had persistent PH at 48 h, 69% required ECMO, and 54% died. Risk factors for any PH included younger gestational age, intrathoracic liver herniation, prenatal fetoscopic endoluminal tracheal occlusion (FETO)-intervention, lower lung to head ratio (LHR), and total fetal lung volume (TFLV). Patients with moderate and severe PH showed similar characteristics, except liver position at 24- (p = 0.042) and 48 h (p = 0.001), mortality (p = 0.001), and ECMO-rate (p = 0.035). To our knowledge, this is the first study to systematically assess the dynamics of PH in the first postnatal 48 h at three defined time points. CDH infants with initial moderate and severe PH have a high variation in postnatal PH severity over the first 48 h of life. Patients with mild/no PH have less change in PH severity, and an excellent prognosis. Patients with severe PH at any point have a significantly higher risk for ECMO and mortality. Assessing PH within 2-6 h should be a primary goal in the care for CDH neonates.

Prenatal Diagnosis of an Intrathoracic Left Kidney Associated with Congenital Diaphragmatic Hernia: Case Report and Systematic Review.

A congenital intrathoracic kidney (ITK) is a rare anomaly that is recognized to have four causes: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. We report a case of a prenatal-diagnosed ITK related to a congenital diaphragmatic hernia (CDH) and conducted a systematic review of all cases of the prenatal diagnosis of this association. A fetal ultrasound scan at 22 gestational weeks showed left CDH and ITK, hyperechoic left lung parenchyma, and mediastinal shift. The fetal echocardiography and karyotype were normal. Magnetic resonance imaging at 30 gestational weeks confirmed the ultrasound suspicion of left CDH in association with bowel and left kidney herniation. The fetal growth, amniotic fluid, and Doppler indices remained within the normal range over time. The woman delivered the newborn via an at-term spontaneous vaginal delivery. The newborn was stabilized and underwent non-urgent surgical correction; the postoperative course was uneventful. CDH is the rarest cause of ITK; we found only eleven cases describing this association. The mean gestational age at diagnosis was 29 ± 4 weeks and 4 days. There were seven cases of right and four cases of left CDH. There were associated anomalies in only three fetuses. All women delivered live babies, the herniated kidneys showed no functional damage after their surgical correction, and the prognosis was favorable after surgical repair. The prenatal diagnosis and counseling of this condition are important in planning adequate prenatal and postnatal management in order to improve neonatal outcomes.

In utero delivery of miRNA induces epigenetic alterations and corrects pulmonary pathology in congenital diaphragmatic hernia

Structural fetal diseases, such as congenital diaphragmatic hernia (CDH) can be diagnosed prenatally. Neonates with CDH are healthy in utero as gas exchange is managed by the placenta, but impaired lung function results in critical illness from the time a baby takes its first breath. MicroRNA (miR) 200b and its downstream targets in the TGF-β pathway are critically involved in lung branching morphogenesis. Here, we characterize the expression of miR200b and the TGF-β pathway at different gestational times using a rat model of CDH. Fetal rats with CDH are deficient in miR200b at gestational day 18. We demonstrate that novel polymeric nanoparticles loaded with miR200b, delivered in utero via vitelline vein injection to fetal rats with CDH results in changes in the TGF-β pathway as measured by qRT-PCR; these epigenetic changes improve lung size and lung morphology, and lead to favorable pulmonary vascular remodeling on histology. This is the first demonstration of in utero epigenetic therapy to improve lung growth and development in a pre-clinical model. With refinement, this technique could be applied to fetal cases of CDH or other forms of impaired lung development in a minimally invasive fashion.

Characterization of Suboptimal Responses to Fetoscopic Endoluminal Tracheal Occlusion in Congenital Diaphragmatic Hernia

Introduction: The aim of the study was to characterize the changes in fetal lung volume following fetoscopic endoluminal tracheal occlusion (FETO) that are associated with infant survival and need for extracorporeal membrane oxygenation (ECMO) in congenital diaphragmatic hernia (CDH). Methods: Fetuses with CDH who underwent FETO at a single institution were included. CDH cases were reclassified by MRI metrics [observed-to-expected total lung volume (O/E TLV) and percent liver herniation]. The percent changes of MRI metrics after FETO were calculated. ROC-derived cutoffs of these changes were derived to predict infant survival to discharge. Regression analyses were done to determine the association between these cutoffs with infant survival and ECMO need, adjusted for site of CDH, gestational age at delivery, fetal sex, and CDH severity. Results: Thirty CDH cases were included. ROC analysis demonstrated that post-FETO increases in O/E TLV had an area under the curve of 0.74 (p = 0.035) for the prediction of survival to hospital discharge; a cutoff of less than 10% was selected. Fetuses with a <10% post-FETO increase in O/E TLV had lower survival to hospital discharge [44.8% vs. 91.7%; p = 0.018] and higher ECMO use [61.1% vs. 16.7%; p = 0.026] compared to those with an O/E TLV increase ≥10%. Similar results were observed when the analyses were restricted to left-sided CDH cases. A post-FETO <10% increase in O/E TLV was independently associated with lower survival at hospital discharge (aOR: 0.073, 95% CI: 0.008–0.689; p = 0.022) and at 12 months of age (aOR: 0.091, 95% CI: 0.01–0.825; p = 0.036) as well as with higher ECMO use (aOR: 7.88, 95% CI: 1.31–47.04; p = 0.024). Conclusion: Fetuses with less than 10% increase in O/E TLV following the FETO procedure are at increased risk for requiring ECMO and for death in the postnatal period when adjusted for gestational age at delivery, CDH severity, and other confounders.

Antenatally Detected Thoracic Lesions: Prognosis, Management and Outcome.

Foetal thoracic lesions are uncommon, with the incidence of 1 in 15,000 live births. Antenatal monitoring of these lesions is required to prognosticate the parents about the postnatal outcome of the lesions and about the well-being of the baby. Foetal ultrasound and magnetic resonance imaging (MRI) are the modalities to detect these lesions and follow-up during pregnancy and postnatally. Congenital pulmonary adenomatoid malformations (CPAM), congenital diaphragmatic hernia (CDH) and bronchopulmonary sequestrations (BPS) are the commonly detected foetal thoracic lesions. Parameters such as congenital cystic adenomatoid malformation (CCAM) volume ratio (CVR) and lung-to-head ratio (LHR) determine the prognosis of these lesions. With this background, we planned to study the prognosis and outcome of antenatally detected thoracic lesions. This was a prospective study carried out for 2 years (January 2017 to December 2018). Pregnant females with foetuses diagnosed to have thoracic lesions on the second- and third-trimester ultrasound and foetal MRI were enrolled for the study. CVR and LHR were noted. Outcomes were analysed in terms of the need of termination of pregnancy, foetal or neonatal demise and need of surgery or conservative management. Of a total of 521 pregnancies, thoracic lesions were detected in 22 (4.22%) cases. Individually, the incidence of each lesion was: CPAM-10 (45.45%), BPS-5 (22.73%), CDH-5 (22.73%) and congenital higher airway obstruction-2 (9.1%). Chromosomal screening was normal in 100% of cases. Follow-up was done for 2 years. Termination of pregnancy was required in 3 (13.64%) cases, postnatal death occurred in 4 (18.2%) cases, surgery was required in three cases of CDH soon after birth and two cases of extralobar BPS at 2 years of age. 10 (45.45%) cases were managed conservatively, who are doing well at 2-year follow-up. CPAMs, BPSs and CDH are the commonly detected antenatal thoracic lesions. Ultrasonography and MRI help detect and prognosticate the parents about the outcomes of these lesions. CVR and LHR with associated congenital malformations are important prognostic markers for these lesions. There is a need of long-term prospective studies to delineate the natural history of these lesions.

Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.

Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%. Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed. Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest.

Bochdalek hernia presenting gastrointestinal symptoms in late childhood: a case report

Most cases of congenital diaphragmatic hernia (CDH) can be diagnosed based on symptoms of severe respiratory failure during the neonatal period or fetal ultrasonography. However, some rare cases are diagnosed in late childhood or adolescence. In this case report, I describe an 11-year-old male patient diagnosed with late-onset CDH presenting with acute abdominal pain. The patient had recently experienced anorexia, nausea, and vomiting after eating. However, he reported no abdominal pain or past history of trauma. The abdomen was generally convex. All laboratory data were within normal limits. A chest X-ray revealed elevation of the left diaphragm. Chest computed tomography showed a defect in the left diaphragm. Based on the above radiologic findings, emergency surgery was performed after the diagnosis of diaphragmatic hernia. A surgical incision was performed in the left subcostal area. Finally, late-presenting Bochdalek hernia was diagnosed. The operation was completed and no specific findings on chest X-ray were found after surgery. The patient was discharged on the fourth day after surgery. In conclusion, CDH in late childhood or adolescence is rare and has various clinical manifestations. To avoid complications such as strangulation and bowel perforation, emergency surgery may be required. Thus, it is necessary to suspect CDH in children with recurrent gastrointestinal or respiratory symptoms, based on which an accurate diagnosis can be made and successful surgical treatment can be performed.

The prognosis of type 3 congenital pulmonary airway malformations may not be poor: Antenatal sonographic evaluation and postnatal outcomes of non-cardiac thoracic malformations in a large cohort

Background: To analyze the prenatal sonographic findings, prevalence, and outcomes of non-cardiac thoracic malformations (NCTMs).Method: This study included a retrospective analysis of electronic health records from February 2014 to March 2021. The follow-up sonographic examinations of the fetuses with diagnoses of NCTM and postnatal clinical follow-up were retrieved from electronically stored files and reports. Results: Out of 19,640 fetuses, 25 fetuses were found to have NCTM with a prevalence of 0.12%. The most common NCTM was congenital pulmonary airway malformation (CPAM) (n=8, 32%), followed by pleural effusion (PE), pulmonary hypoplasia (PH), and congenital diaphragmatic hernia (CDH) (4 cases each, 16%), bronchopulmonary sequestration (BPS) (n=3, 12%), congenital lymphangioma (CL), and pectus excavatum (PEx) (1 case each, 4%). All type 3 CPAM cases and BPS cases resolved spontaneously in utero, whereas all type 2 CPAM (n=2) cases required surgery in the neonatal period and one of the type 1 cases resulted in fetal hydrops. All PE, PEx, and PH cases, and 25% of the CDH cases (n=1) were associated with underlying abnormalities. All cases with PH (n=4), all PE cases associated with hydrops (n=2, 50%) resulted in exitus in utero.Conclusion: NCTMs are rare congenital anomalies with a prevalence of 0.12%. The most common type of NCTM was found as CPAM. All cases of type 3 CPAM and BPS showed spontaneous resolution in utero. The prognosis of type 3 CPAM may be favorable.

The management of congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a structural birth defect that with varying degrees of severity that results in significant neonatal morbidity and mortality. CDH occurs in 1:2,500 live births, and despite the advances in prenatal diagnosis and neonatal intensive care, the mortality and morbidity rate in infants with CDH is significant. In this article, we tried to summarize the main modalities of diagnosis, prognosis and medical treatment in CDH cases, found in specialty literature.

A new method of ventilation inhomogeneity assessment based on a simulation study using clinical data on congenital diaphragmatic hernia cases

Congenital Diaphragmatic Hernia (CDH) is a diaphragm defect associated with lung hypoplasia and ventilation inhomogeneity (VI). The affected neonates are usually born with respiratory failure and require mechanical ventilation after birth. However, significant interindividual VI differences make ventilation difficult. So far, there are no clinical methods of VI assessment that could be applied to optimize ventilation at the bedside. A new VI index is a ratio of time constants T1/T2 of gas flows in both lungs. Pressure-controlled ventilation simulations were conducted using an infant hybrid (numerical-physical) respiratory simulator connected to a ventilator. The parameters of the respiratory system model and ventilator settings were based on retrospective clinical data taken from three neonates (2, 2.6, 3.6 kg) treated in the Paediatric Teaching Clinical Hospital of the Medical University of Warsaw. We searched for relationships between respiratory system impedance (Z) and ventilation parameters: work of breathing (WOB), peak inspiratory pressure (PIP), and mean airway pressure (MAP). The study showed the increased VI described by the T1/T2 index value highly correlated with elevated Z, WOB, PIP and MAP (0.8–0.9, the Spearman correlation coefficients were significant at P < 0.001). It indicates that the T1/T2 index may help to improve the ventilation therapy of CDH neonates.