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BMC Pregnancy and Childbirth May 2023The diagnosis of congenital intrathoracic lesions still has limitations. The airway development was influenced by intrathoracic factors. Whether the diagnostic value of... (Observational Study)
Observational Study
BACKGROUND
The diagnosis of congenital intrathoracic lesions still has limitations. The airway development was influenced by intrathoracic factors. Whether the diagnostic value of the upper airway parameters in congenital intrathoracic lesions has not been confirmed.
OBJECTIVES
We aimed to compare fetal upper airway parameters between normal fetuses and fetuses with intrathoracic lesions, and we tried to verify its diagnostic value in intrathoracic lesions.
METHODS
This was an observational case-control study. In the control group, 77 women were screened at 20-24 weeks' gestational age, 23 were screened at 24-28 weeks' gestational age, and 27 were screened at 28-34 weeks' gestational age. In the case group, 41 cases were enrolled (6 cases of intrathoracic bronchopulmonary sequestration, 22 of congenital pulmonary airway malformations, and 13 of congenital diaphragmatic hernia). Fetal upper airway parameters (tracheal width, the narrowest lumen width, and width of the subglottic cavity and laryngeal vestibule) were measured using ultrasound equipment. The correlations between fetal upper airway parameters and gestational age, and the differences in fetal upper airway parameters between cases and controls, were analyzed. The standardized airway paraments were acquired, and their potential diagnostic value for congenital intrathoracic lesions were analyzed.
RESULTS
The fetal upper airway parameters of both groups were positively correlated with the gestational age: The control group, tracheal width (R = 0.569, p < 0.001), narrowest lumen width (R = 0.429, p < 0.001), subglottic cavity width (R = 0.551, p < 0.001), laryngeal vestibule width (R = 0.349, p < 0.001). The case group (tracheal width R = 0.474, p < 0.001) narrowest lumen width (R = 0.425, p < 0.001), subglottic cavity width (R = 0.623, p < 0.001), laryngeal vestibule width (R = 0.347, p < 0.001). Fetal upper airway parameters of the cases group were smaller than those of the controls group. The tracheal width in fetuses with congenital diaphragmatic hernia was the smallest among the other case groups studied. The standardized tracheal width has the best diagnostic value for congenital intrathoracic lesions in the standardized airway paraments (the area under the ROC curve was 0.894), and has a high diagnostic value for congenital pulmonary airway malformations and congenital diaphragmatic hernia (the area under the ROC curve was 0.911 and 0.992, respectively).
CONCLUSION
Fetal upper airway parameters differ between normal fetuses and fetuses with intrathoracic lesions, and might offer potential diagnostic clues for congenital intrathoracic lesions.
Topics: Adult; Female; Humans; Pregnancy; Young Adult; Case-Control Studies; Fetus; Hernias, Diaphragmatic, Congenital; Nose; Prenatal Care; Bronchopulmonary Sequestration; Gestational Age
PubMed: 37221500
DOI: 10.1186/s12884-023-05599-1 -
Journal of Pediatric Surgery Nov 2023Nutritional complications have an impact in both short- and long-term morbidity of patients with congenital diaphragmatic hernia (CDH). We aimed to compare time to full...
BACKGROUND
Nutritional complications have an impact in both short- and long-term morbidity of patients with congenital diaphragmatic hernia (CDH). We aimed to compare time to full enteral tube feeding depending on route -gastric (GT) or transpyloric (TPT)- in newborns with left CDH (L-CDH).
METHODS
Retrospective cohort study of L-CDH patients admitted to a referral tertiary care NICU between January 2007 and December 2014. Lethal chromosomal abnormalities and death before initiation of enteral nutrition were exclusion criteria.
RESULTS
37 patients were fed through GT, 46 by TPT. TPT children took 11.0 (6.8) days to reach full enteral tube feeding and spent 16.6 (8.1) days on parenteral nutrition vs 16.8 (14.7) days (p = 0.041) and 22.7 (13.5) days (p = 0.020) of GT patients. TPT children had 3.9 (2.4) days of fasting due to GI issues and 20% had episodes of decreased rates of enteral nutrition for extra-GI complications vs 11.4 (11.1) days (p = 0.028) and 49% (p = 0.006). According to the best fitting model (R 0.383, p < 0.001), the TPT-group achieved full enteral feeding 8.4 days earlier than the GT-group (95% CI -14.76 to - 2.02 days), after adjustment by severity of illness during the first days, o/e LHR_liver and class of diaphragmatic defect. There were no differences in growth outcomes and length of stay between survivors of GT and TPT groups.
CONCLUSION
TPT shortens time to full enteral nutrition, especially in the most severe L-CDH patients. We propose that placement of a TPT at the end of the surgical repair procedure should be considered, especially in higher-risk patients.
LEVEL OF EVIDENCE
Treatment study, Level III. Retrospective comparative, case-control study.
Topics: Child; Humans; Infant, Newborn; Hernias, Diaphragmatic, Congenital; Retrospective Studies; Case-Control Studies; Enteral Nutrition; Parenteral Nutrition
PubMed: 37507336
DOI: 10.1016/j.jpedsurg.2023.06.018 -
Journal of Visualized Experiments : JoVE Feb 2021Fetal tracheal occlusion (TO), an established treatment modality, promotes fetal lung growth and survival in severe congenital diaphragmatic hernia (CDH). Following TO,...
Fetal tracheal occlusion (TO), an established treatment modality, promotes fetal lung growth and survival in severe congenital diaphragmatic hernia (CDH). Following TO, retention of the secreted epithelial fluid increases luminal pressure and induces lung growth. Various animal models have been defined to understand the pathophysiology of CDH and TO. All have their own advantages and disadvantages such as the difficulty of the technique, the size of the animal, cost, high mortality rates, and the availability of genetic tools. Herein, a novel transuterine model of murine fetal TO is described. Pregnant mice were anesthetized, and the uterus exposed via a midline laparotomy. The trachea of selected fetuses were ligated with a single transuterine suture placed behind the trachea, one carotid artery, and one jugular vein. The dam was closed and allowed to recover. Fetuses were collected just before parturition. Lung to body weight ratio in TO fetuses was higher than that in control fetuses. This model provides researchers with a new tool to study the impact of both TO and increased luminal pressure on lung development.
Topics: Animals; Embryo, Mammalian; Female; Fetoscopy; Fetus; Hernias, Diaphragmatic, Congenital; Lung; Mice; Models, Animal; Pregnancy; Trachea
PubMed: 33616107
DOI: 10.3791/61772 -
Pediatric Surgery International Sep 2020Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by incomplete formation of the diaphragm. Because CDH... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a relatively common and life-threatening birth defect, characterized by incomplete formation of the diaphragm. Because CDH herniation occurs at the same time as preacinar airway branching, normal lung development becomes severely disrupted, resulting almost invariably in pulmonary hypoplasia. Despite various research efforts over the past decades, the pathogenesis of CDH and associated lung hypoplasia remains poorly understood. With the advent of molecular techniques, transgenic animal models of CDH have generated a large number of candidate genes, thus providing a novel basis for future research and treatment. This review article offers a comprehensive overview of genes and signaling pathways implicated in CDH etiology, whilst also discussing strengths and limitations of transgenic animal models in relation to the human condition.
Topics: Animals; Animals, Genetically Modified; Disease Models, Animal; Genetic Association Studies; Hernias, Diaphragmatic, Congenital; Signal Transduction
PubMed: 32591848
DOI: 10.1007/s00383-020-04705-0 -
The Journal of Pediatrics Jul 2020To examined outcomes for infants born with congenital diaphragmatic hernias (CDH), according to specific treatment center volume indicators.
OBJECTIVE
To examined outcomes for infants born with congenital diaphragmatic hernias (CDH), according to specific treatment center volume indicators.
STUDY DESIGN
A population-based retrospective cohort study was conducted involving neonatal intensive care units in California. Multivariable analysis was used to examine the outcomes of infants with CDH including mortality, total days on ventilation, and respiratory support at discharge. Significant covariables of interest included treatment center surgical and overall neonatal intensive care unit volumes.
RESULTS
There were 728 infants in the overall CDH cohort, and 541 infants (74%) in the lower risk subcohort according to a severity-weighted congenital malformation score and never requiring extracorporeal membrane oxygenation. The overall cohort mortality was 28.3% (n = 206), and 19.8% (n = 107) for the subcohort. For the lower risk subcohort, the adjusted odds of mortality were significantly lower at treatment centers with higher CDH repair volume (OR, 0.41; 95% CI, 0.23-0.75; P = .003), ventilator days were significantly lower at centers with higher thoracic surgery volume (OR, 0.56; 9 5% CI, 0.33-0.95; P = .03), and respiratory support at discharge trended lower at centers with higher neonatal intensive care unit admission volumes (OR, 0.51; 9 5% CI, 0.26-1.02; P = .06).
CONCLUSIONS
Overall and surgery-specific institutional experience significantly contribute to optimized outcomes for infants with CDH. These data and follow-on studies may help inform the ongoing debate over the optimal care setting and relevant quality indicators for newborn infants with major surgical anomalies.
Topics: California; Extracorporeal Membrane Oxygenation; Female; Hernias, Diaphragmatic, Congenital; Humans; Incidence; Infant, Newborn; Intensive Care Units, Neonatal; Male; Retrospective Studies; Treatment Outcome
PubMed: 32418817
DOI: 10.1016/j.jpeds.2020.03.028 -
Genes Sep 2021The genetic etiology of congenital diaphragmatic hernia (CDH), a common and severe birth defect, is still incompletely understood. Chromosomal aneuploidies, copy number... (Review)
Review
The genetic etiology of congenital diaphragmatic hernia (CDH), a common and severe birth defect, is still incompletely understood. Chromosomal aneuploidies, copy number variations (CNVs), and variants in a large panel of CDH-associated genes, both and inherited, have been described. Due to impaired reproductive fitness, especially of syndromic CDH patients, and still significant mortality rates, the contribution of variants to the genetic background of CDH is assumed to be high. This assumption is supported by the relatively low recurrence rate among siblings. Advantages in high-throughput genome-wide genotyping and sequencing methods have recently facilitated the detection of variants in CDH. This review gives an overview of the known disease-causing variants in CDH patients.
Topics: Aneuploidy; Chromosome Aberrations; DNA Copy Number Variations; Hernias, Diaphragmatic, Congenital; Humans; Mutation
PubMed: 34573387
DOI: 10.3390/genes12091405 -
Seminars in Fetal & Neonatal Medicine Aug 2022Pulmonary hypertension is an emergency in neonatal intensive care units with high morbidity and mortality. Its timely assessment and management is crucial for intact... (Review)
Review
Pulmonary hypertension is an emergency in neonatal intensive care units with high morbidity and mortality. Its timely assessment and management is crucial for intact survival. Over the last couple of decades, there have been significant advances in management and techniques, which have resulted in improved survival. The use of neonatologist-performed echocardiography (NPE) is now increasingly utilized on neonatal intensive care units to understand the pathophysiology of the disease and to direct the treatment to the underlying cause. Its use is now established not only in cases of congenital diaphragmatic hernia and in the newborn with refractory hypoxemia, but also in other conditions such as bronchopulmonary dysplasia and the premature infant with difficulty in oxygenation. The use of NPE, however, requires the availability of trained personnel, equipment, and a close working relationship with pediatric cardiology.
Topics: Bronchopulmonary Dysplasia; Child; Echocardiography; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Infant; Infant, Newborn; Intensive Care Units, Neonatal; Neonatologists
PubMed: 35718687
DOI: 10.1016/j.siny.2022.101366 -
European Journal of Pediatrics Sep 2022In recent years, magnetic resonance imaging (MRI) has largely increased our knowledge and predictive accuracy of congenital diaphragmatic hernia (CDH) in the fetus.... (Review)
Review
UNLABELLED
In recent years, magnetic resonance imaging (MRI) has largely increased our knowledge and predictive accuracy of congenital diaphragmatic hernia (CDH) in the fetus. Thanks to its technical advantages, better anatomical definition, and superiority in fetal lung volume estimation, fetal MRI has been demonstrated to be superior to 2D and 3D ultrasound alone in CDH diagnosis and outcome prediction. This is of crucial importance for prenatal counseling, risk stratification, and decision-making approach. Furthermore, several quantitative and qualitative parameters can be evaluated simultaneously, which have been associated with survival, postnatal course severity, and long-term morbidity.
CONCLUSION
Fetal MRI will further strengthen its role in the near future, but it is necessary to reach a consensus on indications, methodology, and data interpretation. In addition, it is required data integration from different imaging modalities and clinical courses, especially for predicting postnatal pulmonary hypertension. This would lead to a comprehensive prognostic assessment.
WHAT IS KNOWN
• MRI plays a key role in evaluating the fetal lung in patients with CDH. • Prognostic assessment of CDH is challenging, and advanced imaging is crucial for a complete prenatal assessment and counseling.
WHAT IS NEW
• Fetal MRI has strengthened its role over ultrasound due to its technical advantages, better anatomical definition, superior fetal lung volume estimation, and outcome prediction. • Imaging and clinical data integration is the most desirable strategy and may provide new MRI applications and future research opportunities.
Topics: Female; Fetus; Hernias, Diaphragmatic, Congenital; Humans; Lung; Lung Volume Measurements; Magnetic Resonance Imaging; Pregnancy; Prognosis; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 35794403
DOI: 10.1007/s00431-022-04540-6 -
American Journal of Medical Genetics.... Oct 2022Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset...
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that CREBBP, SMARCA4, UBA2, and USP9X play a role in diaphragm development.
Topics: Animals; DNA Copy Number Variations; Diaphragm; Hernias, Diaphragmatic, Congenital; Mice
PubMed: 35904974
DOI: 10.1002/ajmg.a.62919 -
African Journal of Paediatric Surgery :... 2023Despite all the advances, the mortality rate of congenital diaphragmatic hernia (CDH) ranges from 30% to 60% for isolated CDH and as high as 89% when they are associated...
INTRODUCTION
Despite all the advances, the mortality rate of congenital diaphragmatic hernia (CDH) ranges from 30% to 60% for isolated CDH and as high as 89% when they are associated with additional structural or chromosomal anomalies. Hence, a study was conducted to evaluate the factors contributing to the mortality of neonates treated for CDH or the eventration of diaphragm.
MATERIALS AND METHODS
A retrospective study was conducted in the department of paediatric surgery at a tertiary centre. The neonates admitted with a diagnosis of CDH or eventration requiring surgery, between March 2013 and March 2021, were included in the study.
RESULTS
A total of 123 neonates were included in the study. The variables, earlier median age at presentation (1 [1-23] vs. 3 [1-28]; P < 0.001; Mann-Whitney U-test), preterm birth (10/79 vs. 0/44; P = 0.01; Fischer's exact test), inborn (68/79 vs. 27/44; P = 0.002; Chi-square test), weight ≤2 kg (18/79 vs. 1/44; P = 0.003; Chi-square test), central cyanosis at presentation (21/79 vs. 1/44; P < 0.001; Chi-square test), antenatal detection (47/79 vs. 14/44; P = 0.003; Chi-square test) and earlier mean age at surgery (3.66 ± 1.47 vs. 7.66 ± 6.88; P < 0.001; Independent sample t-test) were associated with increased mortality. On multinominal logistic regression analysis, the factors preterm (odd's Ratio [OR] =4.735; P = 0.03), weight ≤2 kg (OR = 5.081; P = 0.02), central cyanosis at presentation (OR = 6.969; P = 0.008) and antenatal detection (OR = 7.471; P = 0.006) were found to be independently associated with increased mortality in CDH/eventration.
CONCLUSION
The factors: prematurity, weight <2 kg, cyanosis at presentation and antenatal diagnosis were independently associated with increased mortality in neonates with CDH/eventration requiring surgery.
Topics: Child; Infant, Newborn; Humans; Female; Pregnancy; Hernias, Diaphragmatic, Congenital; Retrospective Studies; Premature Birth; Cyanosis
PubMed: 36960499
DOI: 10.4103/ajps.ajps_165_21