Figure 2: Map of genetic testing practices in this cohort. Of 306 patients in the cohort, 149 had relevant genetic testing performed. The map details the type of testing and diagnostic results. Note that the total of 149 patients includes one patient with SFTPC-associated surfactant metabolic dysfunction whose EMR lacked documentation of which lab performed the testing. The CHOP Pulmonary and Vascular Disease panel is a targeted gene panel containing 76 genes associated with conditions including, but not limited to, respiratory distress syndrome, surfactant metabolic dysfunction, alveolar capillary dysplasia, primary ciliary dyskinesia, interstitial lung disease, and other inherited pulmonary-vascular disorders. Other genetic analysis refers to single gene testing/targeted variant testing and targeted respiratory-related gene panels.
Abbreviations: CHOP: Children’s Hospital of Philadelphia; HPS: Hermansky-Pudlak Syndrome; OSH: outside hospital; SMD=surfactant metabolism dysfunction
Figure 3: CHOP subspecialty outpatient care utilization. Data is based on outpatient clinic visits by medical subspecialty for the overall cohort for the time period between 2019 and 2021 and lifetime as documented in the EMR.
Figure 4: Hospitalization by primary disease category.A. Overall hospitalizations between 2019-2021 and both lifetime. B. ICU hospitalizations, between 2019 and 2021 and lifetime. NEHI: Neuroendocrine cell Hyperplasia of Infancy.