Tonni, GabrieleKocak, CaglaGrisolia, GianpaoloRizzo, GiuseppeAraujo Junior, EdwardWerner, HeronRuano, Rodrigo2024-08-232024-08-2320231551-38151551-3823https://doi.org/10.1080/15513815.2023.2206905https://hdl.handle.net/20.500.12684/14193Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.en10.1080/15513815.2023.2206905info:eu-repo/semantics/closedAccessVACTERL associationprenatal diagnosisultrasoundfetal pathologyPrenatal-DiagnosisEsophageal AtresiaVater AssociationTracheoesophageal FistulaRenal AnomaliesCongenital-AnomaliesCardiac AnomaliesVertebral DefectsFanconi-AnemiaSonic HedgehogArticle42465167437195727WOS:000989128700001Q4