Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review.
BACKGROUND
No consensus exists regarding the ability to detect the 22q11 deletion syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical referral. Thus, individuals with typical manifestations are easily identified, but when manifestations are atypical or subclinical, diagnosis may be delayed or even missed. The aim of the present literature review was to evaluate the validity of clinical assessment as a method of predicting 22q11.2 deletions in individuals with congenital cardiac malformations.


METHODS
We identified 14 studies in which clinical assessment was blinded to the result from the genetic analysis.


RESULTS
Among 1458 patients, 159 (11% [9-13%]) carried the 22q11.2 deletion. The clinicians correctly identified 110 (69% [62-76%]) of them, whereas 49 (31% [24-38%]) would have remained undiagnosed if genetic screening had not been performed. Sensitivity, specificity, predictive value of positive and negative tests ranged from 0-100%, 43-100%, 7-100%, and 79-100%, respectively.


CONCLUSIONS
Clinical assessment identifies less than 3/4 patients with a 22q11.2 deletion, whereas more than 1/4 remain undiagnosed if genetic tests are not performed on a routine basis. In this review, we found that clinical assessment is not suited for detecting individuals to be tested for 22q11.2 deletions.
Department of Pediatrics, Viborg Hospital, Denmark. peteragergaard@dadlnet.dk
Peter
P
Agergaard
Anders
A
Hebert
Karina M
KM
Sørensen
John R
JR
Østergaard
Charlotte
C
Olesen
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005820:Genetic Testing; D006321:Heart / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D012680:Sensitivity and Specificity