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VACTERL Clinical Diagnosis
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VACTERL/VATER Diagnostic Methods
Feature
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Intitial test(s)
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Notes
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Vertebral anomalies
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X-ray; ultrasound and/or MRI of the spine
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X-ray may not show subtle spinal anomalies, and will be unable to detect associated anomalies such as tethered cord or syrinx
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Anal atresia
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Physical examination/observation, abdominal ultrasound for genitourinary anomalies
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Additional testing is typically required to define anatomy, especially if concomitant genitourinary anomalies are present
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Cardiac malformations
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Echocardiogram
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Other, more precise techniques, such as cardiac CT or MRI may be helpful to further detail anomalies
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Tracheo-esophageal fistula
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Physical examination/observation (contrast studies are rarely required)
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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
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Renal anomalies
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Renal ultrasound
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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
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Limb anomalies
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Physical examination, X-ray
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Important not to overlook, as the presence of limb anomalies often prompts testing for Fanconi anemia
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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.
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Table reference [1] Links: VACTERL | vertebra | heart | renal | limb
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- ↑ Solomon BD. (2011). VACTERL/VATER Association. Orphanet J Rare Dis , 6, 56. PMID: 21846383 DOI.