Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery
Congenital Diaphragmatic HerniaTracheoesophageal Fistula1 moreThe study is primarily a descriptive study examining the physiological, ventilatory, surgical, and recovery effects of patients ≤ 6 months of age who undergo thoracoscopic surgery and to determine the accuracy of transcutaneous CO2 (TC-CO2) and end-tidal CO2 (ET-CO2) during high frequency oscillatory ventilation (HFOV) and thoracoscopic procedures.
Antibody Secreting Cell and Cyotokine Profiles in Neonates on ECMO
Persistent Fetal Circulation SyndromeDiaphragmatic Hernia2 moreInfants are placed on ECMO for correction of reversible respiratory failure. Often, because a few of the reasons for respiratory failure show us similar things in the baby, it is difficult to determine exactly which is causing the biggest problem. We are now capable of measuring certain cells and proteins in these infants that may help us more accurately diagnose the exact problem. We hypothesize that infants placed on ECMO will show unique antibody-secreting cells responses and patterns of cytokine and chemokine (protein) response to illness and to the ECMO circuit. If we find unique patterns to these cells or proteins, they may be able to predict outcomes or guide treatment of these infants.
Automated Myocardial Performance Index Using Samsung HERA W10
Twin to Twin Transfusion SyndromeCongenital Diaphragmatic Hernia2 moreResearchers are using Myocardial performance index (MPI) to assess fetal cardiac function before, during, and after fetal surgery in order to gain more knowledge about fetal cardiac function in high risk pregnancies and the relationship to outcomes of fetal surgical interventions.
Fetal Surgery Interview Study: Parental Perceptions of Fetal Surgery
Fetal SurgeryMyelomeningocele1 moreOpen maternal-fetal surgery is currently used on fetuses with myelomeningocele (MMC). Fetoscopic or minimal access fetal surgery is also being used to treat fetuses with congenital diaphragmatic hernia (CDH). Following accurate diagnosis of a congenital malformation such as MMC or CDH, prospective parents face a range of uncertainties regarding the future of their unborn child, and the options provided require major ethical considerations. In the situation under study, termination of pregnancy may be for some parents an alternative option to expectant prenatal management. Fetal therapy provides a tantalising third option for some, where procedures are undertaken to reduce the likelihood of a more complicated neonatal course, potentially improving long term outcome, but at risk of amniotic fluid leakage, infection and most importantly very preterm delivery, itself associated with significant neonatal mortality and morbidity and long-term consequences. Balancing these competing risks is challenging. For an intervention to be effective it also needs to be acceptable to women and their families. "Acceptability" can be defined as a multi-faceted construct that reflects the extent to which people delivering or receiving a healthcare intervention consider it to be appropriate, based on anticipated or experienced cognitive and emotional responses to the intervention. With this study it is the aim to assess how women (and their partners) perceive the acceptability of a fetal surgical intervention for MMC and CDH. Participants will be asked to share their thoughts, views, feelings and experiences with regards to the decision to participate in fetal surgery. Data are collected by the use of in-depth face-to-face interviews. In-depth interviews are used to understand the participant's perspectives and perceptions of a situation they are in. It explicitly includes participants interpretation and understanding of an event The interviews will be held in two or three moments in time (for parents opting for fetal surgery, there will be one additional interview, after the intervention while admitted in hospital): after counselling for options, but before eventual intervention; for intervention group shortly after the intervention, and 12 weeks after birth of the baby, or termination of pregnancy.
Postoperative Outcomes of Trans-abdominal Open Surgical Repair of Traumatic Diaphragmatic Hernias...
HerniaDiaphragmaticObjective: Evaluation of our management of acute or chronic traumatic diaphragmatic hernia repair with sutures or mesh. Between January 2014 and January 2019, a retrospective study on 185 patients with acute and chronic traumatic diaphragmatic hernias was carried out at the general surgery department of Zagazig University. Results both during and after surgery were assessed.
Early Childhood Follow-up of Congenital Diaphragmatic Hernia Survivors
HerniaDiaphragmaticThe primary objective of this study is to determine the medical and neurodevelopmental outcomes of congenital diaphragmatic hernia (CDH) survivors at school-age (4-6 years) follow-up. It is generally assumed that older CDH survivors have normal daily function and are able to live normal lives, but this has not been adequately studied.
Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia
Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal OutcomeIn isolated congenital diaphragmatic hernia (CDH), recurrent risk is low suggesting the occurrence of novo mutations (dominant or recessive). Our objective is to test this hypothesis by combining the search for pathogenic genomic alteration and intragenic mutations through whole exome sequencing in a homogenous group of patients.
Genetic Analysis of Congenital Diaphragmatic Disorders
Congenital Diaphragmatic HerniaCongenital Diaphragmatic Eventration2 moreThe purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia. Specifically, the investigators plan to: Ascertain informative families and sporadic cases with congenital diaphragmatic disorders and obtain appropriate phenotypic data and genetic material (peripheral blood and/or diaphragm tissue sample). Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD. Isolate and characterize genes involved in the pathogenesis of CDD. Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations. Compare RNA-sequencing from tissue samples of children without CDH to those children with CDH.
Percutaneous Endoscopic Tracheal Plug/Unplug for CDH (Congenital Diaphragmatic Hernia)
Severe Congenital Diaphragmatic HerniaCongenital diaphragmatic hernia is an anatomically simple birth defect in which contents of the fetal abdomen migrate into the chest due to incomplete formation of the diaphragm. Herniation of viscera into the chest prevents the fetal lungs from developing and growing to normal size. In the most severe cases, there is significant morbidity and mortality at birth. For these fetuses, fetal intervention may improve outcomes by enabling the lungs to grow enough in utero that they are capable of sustaining life after birth. This unblinded, non-randomized trial will assess the safety and efficacy of the use of the Goldvalve balloon and MiniTorquer microcatheter to perform percutaneous temporary tracheal occlusion to treat severe CDH in utero. The primary outcome variable will be fetal lung growth due to successful 'plugging/unplugging' of the trachea, as determined by serial lung-head ratio (LHR) measurements. Secondary outcome variables include maternal, fetal and neonatal variables, specifically neonatal survival at 90 days of life. For infants who survive beyond 90 days post-delivery, their families will be offered follow-up (up to 2 years of age and possibly beyond) in the Long-term Infant-to-Adult Follow-up Evaluation (LIFE) Clinic at UCSF.
Inflammatory Cytokine Quantification in Infants
SepsisCongenital Diaphragmatic Hernia1 moreThis study proposes to quantify inflammatory cytokine profiles in three neonatal disease states, namely, neonatal sepsis, infants with a congenital diaphragmatic hernia defect, and infants suffering cardiopulmonary failure significant enough to require heart/lung bypass treatment with extracorporeal membrane oxygenation (ECMO).