Clinical Presentations and Diagnostic Imaging of VACTERL Association.
Gabriele TonniÇağla KoçakGianpaolo GrisoliaGiuseppe RizzoAntonio Fernandes MoronHeron Werner JuniorRodrigo RuanoWaldo SepulvedaMaria Paola BonasoniMario Lituanianull nullPublished in: Fetal and pediatric pathology (2023)
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.
Keyphrases
- magnetic resonance
- high resolution
- computed tomography
- magnetic resonance imaging
- end stage renal disease
- chronic kidney disease
- pregnant women
- ejection fraction
- left ventricular
- gene expression
- prognostic factors
- bone mineral density
- clinical practice
- newly diagnosed
- peritoneal dialysis
- contrast enhanced
- mass spectrometry
- human immunodeficiency virus
- ultrasound guided
- contrast enhanced ultrasound