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Table 3 Diagnostic methods.

From: VACTERL/VATER Association

Feature Intitial test(s) Notes
Vertebral anomalies X-ray; ultrasound and/or MRI of the spine X-ray may not show subtle spinal anomalies, and will be unable to detect associated anomalies such as tethered cord or syrinx
Anal atresia Physical examination/observation, abdominal ultrasound for genitourinary anomalies Additional testing is typically required to define anatomy, especially if concomitant genitourinary anomalies are present
Cardiac malformations Echocardiogram Other, more precise techniques, such as cardiac CT or MRI may be helpful to further detail anomalies
Tracheo-esophageal fistula Physical examination/observation (contrast studies are rarely required) Patients with VACTERL association but without true TEF may still present with swallowing/breathing anomalies, and clinicians should have a low index of suspicion for confirmatory radiological testing
Renal anomalies Renal ultrasound Further testing, such as a voiding cystouerethrogram, may be required in the presence of renal anomalies or if there is other evidence of issues such as vesicoureteral reflux
Limb anomalies Physical examination, X-rays Important not to overlook, as the presence of limb anomalies often prompts testing for Fanconi anemia
  1. Suggested testing for patients (in addition to a careful physical examination by an experienced clinician) suspected to have VACTERL association. Specific modalities used should be dictated by the risk-benefit ratio for the specific situation.
  2. CT: computed tomography; MRI: magnetic resonance imaging; TEF: tracheo-esophageal fistula