TY - JOUR
T1 - Clinical Presentations and Diagnostic Imaging of VACTERL Association
AU - On behalf of the “International Perinatology Research Group (IPRG)”
AU - Tonni, Gabriele
AU - Koçak, Çağla
AU - Grisolia, Gianpaolo
AU - Rizzo, Giuseppe
AU - Araujo Júnior, Edward
AU - Werner, Heron
AU - Ruano, Rodrigo
AU - Sepulveda, Waldo
AU - Bonasoni, Maria Paola
AU - Lituania, Mario
N1 - Publisher Copyright:
© 2023 Taylor & Francis Group, LLC.
PY - 2023
Y1 - 2023
N2 - Background: 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.
AB - Background: 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.
KW - VACTERL association
KW - fetal pathology
KW - prenatal diagnosis
KW - ultrasound
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U2 - 10.1080/15513815.2023.2206905
DO - 10.1080/15513815.2023.2206905
M3 - Article
C2 - 37195727
AN - SCOPUS:85159608251
SN - 1551-3815
VL - 42
SP - 651
EP - 674
JO - Fetal and Pediatric Pathology
JF - Fetal and Pediatric Pathology
IS - 4
ER -