| Study (country) | Years | Design | n (cases) | Prevalence (per 10,000 live births or total) | Termination rate | Associated anomalies % | Key anomalies | 1-year mortality/survival |
|---|---|---|---:|---|---|---|---|---|
| Lausten-Thomsen 2024 (Denmark) | 1997–2021 | Nationwide register-based live-birth cohort | 147 liveborn infants with omphalocele among 1,498,685 live births | 0.98 per 10,000 live births (95% CI 0.83–1.15) | Not directly estimated in cohort; authors note European prenatal termination rates often exceed 50% | 53.7% had ≥1 major malformation; additional 17.0% had a diagnosed syndrome | Broad co-occurring defects affecting cardiac, renal, limb, and CNS systems; syndromic/chromosomal conditions noted | Not reported in extracted context (pqac-00000009) |
| Fogelström 2021 (Sweden) | 1997–2016 | Nationwide population-based cohort | 207 live-born cases; 449 prenatally diagnosed pregnancies | 1.0 per 10,000 live births | 59% of prenatally diagnosed pregnancies (263/449) | 62% had associated malformations and/or genetic disorders | Ventricular septal defect most common; ASD also frequent; trisomy 13 (n=8), trisomy 18 (n=4), trisomy 21 (n=4) reported | 13% mortality within 1 year; ~87% 1-year survival (pqac-00000026, pqac-00000027, pqac-00000028) |
| Raitio 2021 (Finland) | 1993–2014 | Nationwide population-based register study | 600 total cases: 229 live births, 39 stillbirths, 332 terminations | Total prevalence 4.71 per 10,000 births; birth prevalence 1.96 per 10,000; live-birth prevalence 1.69 per 10,000 | 55% (332/600) | Among liveborns, 18% had multiple anomalies; chromosomal abnormalities 9.3% overall; isolated cases 77% of liveborns | Chromosomal abnormalities 9.3%; heart defects 6.3%; CNS anomalies 3.0%; GI and urogenital malformations 2.0% each; Beckwith-Wiedemann noted among syndromes | Overall infant mortality 22%; 1-year survival 80% isolated, 88% multiple anomalies, 17% chromosomal defects (pqac-00000008, pqac-00000029) |
| Que 2023 (China) | 2015–2022 | Single tertiary-center prenatal cohort | 120 fetuses with prenatal omphalocele; 112 followed | Not a population prevalence study | 71.4% of followed pregnancies (80/112) requested termination | 77.5% non-isolated (93/120); 22.5% isolated (27/120) | Cardiac anomalies common (17 fetuses); broader ultrasound findings included cardiovascular, skeletal, CNS, facial anomalies; chromosomal findings: trisomy 18 (n=3), trisomy 13 (n=1), translocation 8–11 (n=1); WES identified pathogenic/suspected pathogenic variants including COL2A1, SCP2, SDHB | Among 25 live births, 72% survived to 1 year (7/25 died in first year) (pqac-00000012, pqac-00000013, pqac-00000014) |


*Table: This table summarizes recent and foundational cohort data on omphalocele prevalence, associated anomalies, termination rates, and 1-year outcomes across Denmark, Sweden, Finland, and a large prenatal cohort from China. It is useful for quickly comparing population-based burden and prognosis across settings.*