| domain | key quantitative finding | evidence type | source/year/DOI |
|---|---:|---|---|
| Epidemiology | Prevalence ~2.3 per 10,000 live births | Human clinical review | Rivas & Clugston 2024, Pediatr Res, doi:10.1038/s41390-023-02905-7 (pqac-00000003) |
| Genetics | Identifiable genetic cause in ~30–40% of cases; chromosomal defects ~10%; de novo variants 10–22% | Human genomic review | Rivas & Clugston 2024, doi:10.1038/s41390-023-02905-7; Liu & Yu 2024, doi:10.1136/wjps-2024-000884 (pqac-00000003, pqac-00000009) |
| Genetics | Common variants explain 19% heritability of susceptibility | Human GWAS/genome sequencing | Qiao et al. 2024, Am J Hum Genet, doi:10.1016/j.ajhg.2024.08.024 (pqac-00000046, pqac-00000047) |
| Genetics | De novo damaging variants account for ~25% population attributable risk | Human trio genomics | Qiao et al. 2024, doi:10.1016/j.ajhg.2024.08.024 (pqac-00000047, pqac-00000048) |
| Phenotype / outcome | Associated malformations in ~40% of patients, especially cardiovascular/urogenital | Human clinical review | Liu & Yu 2024, doi:10.1136/wjps-2024-000884 (pqac-00000000) |
| Phenotype / outcome | Mortality 20–30% in high-resource settings; >50% of survivors have long-term morbidity | Human clinical reviews | Rivas & Clugston 2024, doi:10.1038/s41390-023-02905-7; Zani et al. 2022, doi:10.1038/s41572-022-00362-w (pqac-00000003, pqac-00000039) |
| Prenatal prognostic markers | Liver herniation: survival ~45% vs 74% without liver-up; ECMO need 80% vs 25% | Human prognostic review | Perveen et al. 2022, Front Pediatr, doi:10.3389/fped.2022.932463 (pqac-00000001, pqac-00000043) |
| Prenatal prognostic markers | O/E-TFLV >35%: survival 94% vs 56% when <35% | Human prognostic review | Perveen et al. 2022, doi:10.3389/fped.2022.932463 (pqac-00000001, pqac-00000043) |
| Fetal therapy | TOTAL severe left CDH: FETO survival 40% vs 15% expectant management | Human interventional trial summary/review | Zani et al. 2022, Nat Rev Dis Primers, doi:10.1038/s41572-022-00362-w (pqac-00000040) |
| Model organisms | Nitrofen rat model induces CDH with pulmonary hypoplasia in ~70% | Animal teratogen model | Liu & Yu 2024, doi:10.1136/wjps-2024-000884 (pqac-00000018) |
| Model organisms | Conditional Wt1 deletion: CDH incidence ~80% and PPF deletion penetrance 80–90% | Genetic mouse model | Rivas & Clugston 2024, doi:10.1038/s41390-023-02905-7 (pqac-00000029) |


*Table: This table summarizes high-yield quantitative findings for congenital diaphragmatic hernia across epidemiology, genetics, prognosis, fetal therapy, and model systems. It is useful as a compact evidence backbone for a disease knowledge base entry.*