[Sensitivity and specificity of endoscopy for the detection of velocardiofacial syndrome]

Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, and 22q11.2 deletion syndrome among other labels) is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency. 22q11.2 deletion syndrome has been associated with medially positioned internal carotid arteries. This anomaly may be associated with posterior pharyngeal pulsations seen on endoscopy. The purpose of this paper is to study the diagnostic efficacy of the endoscopy for the detection of patients with 22q11.2 deletion syndrome, using as gold standard test the fluorescence in situ hybridization (FISH) test.

Twenty nine patients with submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as demonstrated by FISH were studied. Also, 29 patients with submucous cleft palate, and without abnormalities in the FISH procedure, were studied as controls. All patients from both groups underwent endoscopy. A double-blind procedure was utilized whereby all videonasopharyngoscopies were independently revised by the two examiners.

Twenty five patients with VCFS demonstrated posterior pharyngeal pulsations seen on endoscopy (sensitivity of 86%). In contrast, none of the patients from the control group showed posterior pulsations (specificity of 100%). Positive predictive value was 100%, and negative predictive value was 87%.

Endoscopy seems to be a safe and reliable procedure for evaluating patients with 22q11.2 deletion syndrome. The observations of posterior pharyngeal wall pulsations on endoscopy should alert clinicians to the diagnosis of 22q11.2 deletion, and also, can be useful for preventing the risk of damage to the carotid arteries during velopharyngeal surgery. This indicates another important role of endoscopy in the preoperative assessment of children for palatopharyngoplasty.