summary
To conduct a prospective study of congenital diaphragmatic hernia patients at the Children's Health System, Children's Medical Center Dallas (CMCD), after identification of potentially eligible subjects, the investigator or study team member will perform a preliminary chart review and obtain informed consent from the parents via a face to face meeting or through e-consent/remote consenting (adobe Sign). admission data, including a complete past medical history, which may include the management of the child at an outlying hospital, will be collected. Data abstraction will include echocardiogram results, hemodynamics, vital signs, ventilator settings, blood tests, medication histories, feeding status, neurological status, surgical repair, length of stay and need for additional surgeries or interventions. Biological samples will include a 2mm by 2 mm piece of skin from the incision site, and a 2mm by 2[See protocol for complete text]
objective
To establish a small, well-defined genetic resource consisting of nuclear families with at least one individual with congenital diaphragmatic defects who can be directly screened for allelic variation in candidate genes and genomic alterations and other first degree relatives of the proband to determine the segregation of the genetic alterations with diaphragmatic defect within the family.