Immediately following RCDP interns had improved observed abilities and decreased time to perform critical interventions in NR simulation as compared to those trained with the simulation debriefing. RCDP was not superior in improving confidence level or retention.
Purpose
Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes.
Methods
We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify
de novo
variants. We grouped cases into those with and without likely damaging (LD) variants and systematically assessed CDH clinical outcomes between the genetic groups.
Results
Complex cases with additional congenital anomalies had higher mortality than isolated cases (
P
=8×10
−6
). Isolated cases with LD variants had similar mortality to complex cases and much higher mortality than isolated cases without LD (
P
=3×10
−3
). The trend was similar with pulmonary hypertension at 1 month. Cases with LD variants had an estimated 12–17 points lower scores on neurodevelopmental assessments at 2 years compared to cases without LD variants, and this difference is similar in isolated and complex cases.
Conclusion
We found that the LD genetic variants are associated with higher mortality, worse pulmonary hypertension, and worse neurodevelopment outcomes compared to non-LD variants. Our results have important implications for prognosis, potential intervention and long-term follow up for children with CDH.
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