Abstract
BACKGROUND: This study aimed to investigate the prenatal features, genetic findings, and perinatal outcomes of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT), with a particular focus on associations with additional structural or chromosomal abnormalities. METHODS: A retrospective cohort analysis was conducted on 277 fetuses diagnosed with CAKUT between December 2020 and December 2024 at a tertiary center. Data on anomaly subtypes, associated findings, genetic testing, pregnancy outcomes, and postnatal follow-up were evaluated. Logistic regression was used to identify predictors of termination. RESULTS: Urinary tract dilatation was the most frequent anomaly (28.2%), followed by multicystic dysplastic kidney (11.6%) and bilateral renal agenesis (11.2%). Extrarenal anomalies were present in 33.9% of fetuses, primarily involving the CNS. Genetic testing was performed in 48.4%; chromosomal abnormalities were found in 17.3%, most commonly trisomy 21 (5.8%). Termination was significantly associated with early diagnosis (adjusted OR = 0.82; p < 0.001), oligohydramnios (OR = 4.94; p < 0.001), CNS (OR = 3.74; p = 0.001), and cardiac anomalies (OR = 4.21; p = 0.002). Neonatal death occurred in 29.2% of cases, and mortality was higher in non-isolated anomalies (60% vs. 32.9%, p < 0.001). CONCLUSIONS: Fetuses with CAKUT, particularly those with early diagnosis or coexisting anomalies, carry a higher risk of adverse outcomes. Prenatal detection, coupled with comprehensive genetic and structural evaluation, is essential for informed counseling and postnatal planning.