Congenital Gastrointestinal Malformations in a Romanian Tertiary Centre (2020–2024): A Retrospective Cohort Study of Diagnosis, Distribution, and Outcomes

Background/Objectives: Congenital gastrointestinal malformations (CGIMs) are important causes of neonatal surgical morbidity with potential long-term consequences. Although some can be suspected on prenatal ultrasound, data on their clinical spectrum, burden, and distribution remain limited in Eastern Europe. This study aimed to describe the diagnostic spectrum, timing of diagnosis, documented prenatal ultrasound suspicion, and the early outcomes of CGIMs managed at a Romanian tertiary referral centre between 2020 and 2024, a period overlapping the COVID-19 pandemic. Methods: We conducted a retrospective, single-centre observational study including all consecutive paediatric patients with a CGIM admitted between January 2020 and December 2024. Cases were analysed by index anatomical diagnosis, phenotypic complexity, and etiologic background. Logistic regression was used to examine factors associated with documented prenatal suspicion and in-hospital mortality, and annual hospital-based CGIM admission rates were modelled with Poisson regression, using the number of paediatric surgical admission as the offset. Results: Among the 231 children (58.9% male), the most frequent diagnoses were persistent omphalomesenteric duct remnants (16%), oesophageal atresia with or without tracheoesophageal fistula (15.6%), and anorectal malformations (13.9%). Documented prenatal ultrasound suspicion was present in 17.7% of pregnancies (41/231) and was likely underestimated because antenatal documentation was unavailable for 17.7% of the cohort. The highest proportions of documented prenatal suspicion were observed in jejuno-ileal and duodenal atresia. Foregut malformations were the most common by embryological grouping (93/231, 40.3%). Most cases were diagnosed during the neonatal period (n = 161, 69.7%). CGIM admission rates per 1000 surgical admissions ranged from 20.8 to 38.2. An exploratory Poisson model yielded a hospital-based rate ratio per calendar year of 0.88 (95% CI 0.81–0.97; p = 0.008). However, given the limited number of annual observations and increasing total surgical admissions, this finding should be considered exploratory and hypothesis-generating only. Complex cases accounted for 8.2% and associated extra-intestinal anomalies were present in 70.1%. In-hospital mortality was 13.0% and occurred predominantly in patients with complex or foregut malformations. In the primary complete-case multivariable model, prematurity remained independently associated with mortality, whereas complex CGIMs were not independently associated with mortality after adjustment. A prespecified multiple-imputation sensitivity analysis yielded a stronger estimate for complex CGIMs, but this finding was interpreted cautiously and not treated as a primary result. Conclusions: In this tertiary referral cohort, documented prenatal suspicion of CGIM was low and strongly diagnosis-dependent, while most cases were identified in the neonatal period. Mortality was concentrated in foregut and clinically complex presentations in the descriptive analysis, while prematurity remained independently associated with death in the primary multivariable model. These findings highlight the need to strengthen prenatal referral pathways and coordinated national surveillance.