Abstract
Background/Objectives: Umbilical-portal-systemic venous shunts (UPSVS) are rare fetal vascular anomalies with heterogeneous embryologic origins and variable perinatal implications. Although prenatal diagnosis has increased with advances in fetal imaging, data correlating prenatal subclassification with structural/genetic abnormalities and neonatal outcomes remain limited. Methods: This retrospective study included 50 fetuses prenatally diagnosed with UPSVS at a tertiary referral perinatology center between 2021 and 2025. Cases were subclassified according to the Achiron prenatal classification into Type 1 umbilical-systemic shunt (USS), Type 2 ductus venosus-systemic shunt (DVSS), Type 3a intrahepatic portosystemic shunt (IHPSS), and Type 3b extrahepatic portosystemic shunt (EHPSS). Prenatal ultrasound, Doppler, fetal echocardiography, and genetic testing (karyotype and chromosomal microarray) were analyzed. Perinatal metrics-including structural/genetic anomalies, fetal growth restriction (FGR), termination of pregnancy (TOP), and neonatal outcomes-were evaluated with postnatal verification. Results: The distribution of subtypes was Type 1: 28% (14/50), Type 2: 48% (24/50), Type 3a: 20% (10/50), and Type 3b: 4% (2/50). Gestational age at diagnosis was significantly higher in Type 3a compared with Type 1 and Type 2 (32.2 ± 2.4 vs. 21.1 ± 6.7 and 22.4 ± 5.8 weeks; p < 0.001). Structural anomalies were most frequent in Type 1 (13/14, 92.9%; p < 0.001), while FGR predominated in Type 3a (9/10, 90%; p = 0.006). Ductus venosus (DV) agenesis was universal in Type 1 (14/14) and Type 3b (2/2), absent in Type 2 (0/24), and present in 20% of Type 3a (2/10) (p < 0.001). Genetic abnormalities were detected in 57% of Type 1 (4/7) and 56% of Type 2 (9/16) fetuses, with trisomy 21 most prevalent in Type 2. TOP was highest in Type 1 (8/14, 57.1%; p < 0.001). Adverse neonatal outcomes occurred primarily in Type 1 and Type 3b (p < 0.001), whereas Type 2 demonstrated favorable neonatal outcomes. Conclusions: UPSVS subtype is strongly associated with structural/genetic anomalies, FGR, and neonatal outcomes, underscoring the importance of prenatal subclassification in prognostic assessment and counseling. Type 1 and Type 3b represent the highest-risk subgroups requiring delivery planning in tertiary centers, while Type 2 generally exhibits a benign perinatal course. The association between Type 3a and FGR highlights the need for detailed evaluation of the hepatic venous system in growth-restricted fetuses. However, interpretation of subgroup-specific associations should consider the relatively small sample size of Type 3b cases and the limited genetic testing performed in some Type 3a fetuses. Multicenter prospective studies are warranted to standardize diagnostic algorithms, optimize genetic testing strategies, and refine perinatal management.