臨床小児科: オープンアクセス
オープンアクセス

概要

Clinical Utility of Genetic Screening for 22q11.2 Deletion in a Cleft Palate Population and Interest of the Microarray Analysis

Oumama El Ezzi*, Christelle Jung and Anthony S de Buys Roessingh

Aim: 22q11.2 deletion syndrome is one of the most common syndromes. Its prevalence among children with isolated cleft palate is estimated to be one in 100. The purpose of this study is to evaluate whether routine screening for 22q11 deletions in all infants with cleft palate (CP) is a good strategy for early detection.
Methods: This prospective study was conducted from January 2014 to December 2017 in our cleft lip and palate multidisciplinary consultation at the University Hospital of Lausanne (CHUV). Genetic screening using the Fluorescence In Situ Hybridization (FISH) method has been routinely used to all new patients with CP to identify the chromosome 22q11.2 deletion syndrome.
Results: During the study period, 30 children with CP were treated in our Cleft Center. None of these patients had the 22q11.2 deletion syndrome.
Conclusion: In our opinion, there is no significant advantage in organizing a systematic screening of our children with isolated CP. These patients should be followed closely to enable the detection of other clinical features that could lead to a 22q11DS diagnosis. Extensive information on 22q11DS should be widely furnished.