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Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?
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Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Pulmonology".

Deadline for manuscript submissions: closed (30 November 2023) | Viewed by 7047

Special Issue Editor

Prof. Dr. Thomas Schaible

E-Mail Website
Guest Editor
Department of Neonatology, University Medicine Mannheim, 68167 Mannheim, Germany
Interests: ECMO; lung failure in newborns; pulmonary hypertension; diaphragmatic hernia

Special Issue Information

Dear Colleagues,

Congenital diaphragmatic hernia (CDH) continues to be an important cause of morbidity and mortality despite multiple advances in antenatal assessment, fetal therapy, resuscitation, ventilation techniques, pulmonary vasodilator therapy, and extracorporeal membrane oxygenation (ECMO). The severity of the disease has a broad spectrum and the exact prediction of outcome by different markers plays an important role in planning resources that will be needed for the success of treatment. Another focus is the burden of the disease on the quality of life. Therefore, outcome data of the pulmonary, cardiovascular and neurologic system are of general interest. The relevance of genetic disorders and the influence of complications and additional malformations also should be adressed in future research. Review articles, translational studies, protocols, as well as original basic and clinical studies are welcome.

Prof. Dr. Thomas Schaible
Guest Editor

Manuscript Submission Information

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Keywords

  • diaphragmatic hernia
  • fetal therapy
  • pulmonary hypertension
  • impact of complications
  • ECMO
  • additional malformations
  • chronic lung disease
  • infections
  • long term morbidity
  • clinical trials

Published Papers (6 papers)

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Research

10 pages, 1518 KiB  
Article
Pleural Effusion and Chylothorax in Congenital Diaphragmatic Hernia—Risk Factors, Management and Outcome
by Yannick Schreiner, Sidre Sahin, Christiane Otto, Meike Weis, Svetlana Hetjens, Kathrin Zahn, Michael Boettcher, Alba Perez Ortiz and Neysan Rafat
J. Clin. Med. 2024, 13(6), 1764; https://doi.org/10.3390/jcm13061764 - 19 Mar 2024
Viewed by 1014
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?)
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16 pages, 2147 KiB  
Article
Long-Term Evaluation of the Shape of the Reconstructed Diaphragm in Patients with Left-Sided Congenital Diaphragmatic Hernia Using Serial Chest Radiographs and Correlation to Further Complications
by Christoph von Schrottenberg, Maren Lindacker, Meike Weis, Sylvia Büttner, Thomas Schaible, Michael Boettcher, Lucas M. Wessel and Katrin B. Zahn
J. Clin. Med. 2024, 13(2), 620; https://doi.org/10.3390/jcm13020620 - 22 Jan 2024
Cited by 1 | Viewed by 916
Abstract
Background: Defining risk factors for long-term comorbidities in patients after neonatal repair of congenital diaphragmatic hernia (CDH) is an important cornerstone of the implementation of targeted longitudinal follow-up programs. Methods: This study systematically assessed serial chest radiographs of 89 patients with [...] Read more.
Background: Defining risk factors for long-term comorbidities in patients after neonatal repair of congenital diaphragmatic hernia (CDH) is an important cornerstone of the implementation of targeted longitudinal follow-up programs. Methods: This study systematically assessed serial chest radiographs of 89 patients with left-sided CDH throughout a mean follow-up of 8.2 years. These geometrical variables for the left and right side were recorded: diaphragmatic angle (LDA, RDA), diaphragmatic diameter (LDD, RDD), diaphragmatic height (LDH, RDH), diaphragmatic curvature index (LDCI, RDCI), lower lung diameter (LLLD, RLLD) and thoracic area (LTA, RTA). Results: It was demonstrated that the shape of the diaphragm in patients with large defects systematically differs from that of patients with small defects. Characteristically, patients with large defects present with a smaller LDCI (5.1 vs. 8.4, p < 0.001) at 6 months of age, which increases over time (11.4 vs. 7.0 at the age of 15.5 years, p = 0.727), representing a flattening of the patch and the attached rudimentary diaphragm as the child grows. Conclusions: Multiple variables during early follow-up were significantly associated with comorbidities such as recurrence, scoliotic curves of the spine and a reduced thoracic area. Some geometrical variables may serve as surrogate parameters for disease severity, which is associated with long-term comorbidities. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?)
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14 pages, 5596 KiB  
Article
Radiomics-Assisted Computed Tomography-Based Analysis to Evaluate Lung Morphology Characteristics after Congenital Diaphragmatic Hernia
by Silviu-Viorel Virlan, Matthias F. Froelich, Greta Thater, Neysan Rafat, Julia Elrod, Michael Boettcher, Stefan O. Schoenberg and Meike Weis
J. Clin. Med. 2023, 12(24), 7700; https://doi.org/10.3390/jcm12247700 - 15 Dec 2023
Viewed by 899
Abstract
Purpose: Children with congenital diaphragmatic hernia suffer from long-term morbidity, including lung function impairment. Our study aims to analyze lung morphology characteristics via radiomic-assisted extraction of lung features in patients after congenital diaphragmatic hernia repair. Materials and Methods: 72 patients were retrospectively analyzed [...] Read more.
Purpose: Children with congenital diaphragmatic hernia suffer from long-term morbidity, including lung function impairment. Our study aims to analyze lung morphology characteristics via radiomic-assisted extraction of lung features in patients after congenital diaphragmatic hernia repair. Materials and Methods: 72 patients were retrospectively analyzed after approval by the local research ethics committee. All the image data were acquired using a third-generation dual-source CT (SOMATOM Force, Siemens Healthineers, Erlangen, Germany). Dedicated software was used for image analysis, segmentation, and processing. Results: Radiomics analysis of pediatric chest CTs of patients with status after CDH was possible. Between the ipsilateral (side of the defect) and contralateral lung, three shape features and two higher-order texture features were considered statistically significant. Contralateral lungs in patients with and without ECMO treatment showed significant differences in two shape features. Between the ipsilateral lungs in patients with and without the need for ECMO 1, a higher-order texture feature was depicted as statistically significant. Conclusions: By adding quantitative information to the visual assessment of the radiologist, radiomics-assisted feature analysis could become an additional tool in the future to assess the degree of lung hypoplasia in order to further improve the therapy and outcome of CDH patients. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?)
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10 pages, 1577 KiB  
Article
aCGH Analysis Reveals Novel Mutations Associated with Congenital Diaphragmatic Hernia Plus (CDH+)
by Yannick Schreiner, Teresa Stoll, Oliver Nowak, Meike Weis, Svetlana Hetjens, Eric Steck, Alba Perez Ortiz and Neysan Rafat
J. Clin. Med. 2023, 12(19), 6111; https://doi.org/10.3390/jcm12196111 - 22 Sep 2023
Cited by 1 | Viewed by 765
Abstract
Congenital diaphragmatic hernia (CDH) is a major birth anomaly that often occurs with additional non-hernia-related malformations, and is then referred to as CDH+. While the impact of genetic alterations does not play a major role in isolated CDH, patients with CDH+ display mutations [...] Read more.
Congenital diaphragmatic hernia (CDH) is a major birth anomaly that often occurs with additional non-hernia-related malformations, and is then referred to as CDH+. While the impact of genetic alterations does not play a major role in isolated CDH, patients with CDH+ display mutations that are usually determined via array-based comparative genomic hybridization (aCGH). We analyzed 43 patients with CDH+ between 2012 and 2021 to identify novel specific mutations via aCGH associated with CDH+ and its outcome. Deletions (n = 32) and duplications (n = 29) classified as either pathological or variants of unknown significance (VUS) could be detected. We determined a heterozygous deletion of approximately 3.75 Mb located at 8p23.1 involving several genes including GATA4, NEIL2, SOX7, and MSRA, which was consequently evaluated as pathological. Another heterozygous deletion within the region of 9p23 (9,972,017-10,034,230 kb) encompassing the Protein Tyrosine Phosphatase Receptor Type Delta gene (PTPRD) was identified in 2 patients. This work expands the knowledge of genetic alterations associated with CDH+ and proposes two novel candidate genes discovered via aCGH. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?)
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10 pages, 1075 KiB  
Article
Surgical Risk Factors for Delayed Oral Feeding Autonomy in Patients with Left-Sided Congenital Diaphragmatic Hernia
by Mélina Bourezma, Sébastien Mur, Laurent Storme, Emeline Cailliau, Pascal Vaast, Rony Sfeir, Arthur Lauriot Dit Prevost, Estelle Aubry, Kévin Le Duc and Dyuti Sharma
J. Clin. Med. 2023, 12(6), 2415; https://doi.org/10.3390/jcm12062415 - 21 Mar 2023
Cited by 1 | Viewed by 1274
Abstract
Background: Congenital diaphragmatic hernia (CDH) is a rare disease associated with major nutritional and digestive morbidities. Oral feeding autonomy remains a major issue for the care and management of these patients. The aim of this study was to specify the perinatal risk factors [...] Read more.
Background: Congenital diaphragmatic hernia (CDH) is a rare disease associated with major nutritional and digestive morbidities. Oral feeding autonomy remains a major issue for the care and management of these patients. The aim of this study was to specify the perinatal risk factors of delayed oral feeding autonomy in patients treated for CDH. Methods: This monocentric cohort study included 138 patients with CDH. Eighty-four patients were analyzed after the exclusion of 54 patients (11 with delayed postnatal diagnosis, 5 with chromosomal anomaly, 9 with genetic syndrom, 13 with right-sided CDH, and 16 who died before discharge and before oral feeding autonomy was acquired). They were divided into two groups: oral feeding autonomy at initial hospital discharge (group 1, n = 51) and nutritional support at discharge (group 2, n = 33). Antenatal, postnatal, and perisurgical data were analyzed from birth until first hospital discharge. To remove biased or redundant factors related to CDH severity, statistical analysis was adjusted according to the need for a patch repair. Results: After analysis and adjustment, delayed oral feeding autonomy was not related to observed/expected lung-to-head ratio (LHR o/e), intrathoracic liver and/or stomach position, or operative duration. After adjustment, prophylactic gastrostomy (OR adjusted: 16.3, IC 95%: 3.6–74.4) and surgical reoperation (OR adjusted: 5.1, IC 95% 1.1–23.7) remained significantly associated with delayed oral feeding autonomy. Conclusions: Delayed oral feeding autonomy occurred in more than one third of patients with CDH. Both prophylactic gastrostomy and surgical reoperation represent significant risk factors. Bowel obstruction might also impact oral feeding autonomy. Prophylactic gastrostomy seems to be a false “good idea” to prevent failure to thrive. This procedure should be indicated case per case. Bowel obstruction and all surgical reoperations represent decisive events that could impact oral feeding autonomy. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?)
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9 pages, 543 KiB  
Article
Fetal Lung Volume Appears to Predict Respiratory Morbidity in Congenital Diaphragmatic Hernia
by Valentine Cerbelle, Kévin Le Duc, Stephanie Lejeune, Sébastien Mur, Héloise Lerisson, Elodie Drumez, Rony Sfeir, Julien Bigot, Pauline Verpillat, Riadh Boukhris, Pascal Vaast, Clémence Mordacq, Caroline Thumerelle, Laurent Storme, Antoine Deschildre and Center for Rare Disease “Congenital Diaphragmatic Hernia”
J. Clin. Med. 2023, 12(4), 1508; https://doi.org/10.3390/jcm12041508 - 14 Feb 2023
Cited by 3 | Viewed by 1608
Abstract
Congenital diaphragmatic hernia (CDH) is associated with pulmonary hypoplasia and respiratory morbidity. To assess whether respiratory morbidity during the first 2 years of life in infants with left-sided CDH is associated with fetal lung volume (FLV) evaluated by the observed-to-expected FLV ratio (o/e [...] Read more.
Congenital diaphragmatic hernia (CDH) is associated with pulmonary hypoplasia and respiratory morbidity. To assess whether respiratory morbidity during the first 2 years of life in infants with left-sided CDH is associated with fetal lung volume (FLV) evaluated by the observed-to-expected FLV ratio (o/e FLV) on antenatal magnetic resonance imaging (MRI). In this retrospective study, o/e FLV measures were collected. Respiratory morbidity in the first 2 years of life was studied according to two endpoints: treatment with inhaled corticosteroids for >3 consecutive months and hospitalization for any acute respiratory disease. The primary outcome was a favorable progression defined by the absence of either endpoint. Forty-seven patients were included. The median o/e FLV was 39% (interquartile range, 33–49). Sixteen (34%) infants were treated with inhaled corticosteroids and 13 (28%) were hospitalized. The most efficient threshold for a favorable outcome was an o/e FLV ≥ 44% with a sensitivity of 57%, specificity of 79%, negative predictive value of 56%, and positive predictive value of 80%. An o/e FLV ≥ 44% was associated with a favorable outcome in 80% of cases. These data suggest that lung volume measurement on fetal MRI may help to identify children at lower respiratory risk and improve information during pregnancy, patient characterization, decisions about treatment strategy and research, and personalized follow-up. Full article
(This article belongs to the Special Issue Congenital Diaphragmatic Hernia: What Is New in the Clinical Research?)
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