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.