Table 3 Diagnostic methods.
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 |