No justification of routine screening for 22q11 deletions in patients with overt cleft palate

• Published in: Clinical genetics Vol. 64; no. 3; pp. 216 - 219
• Main Authors: Ruiter, EM, Bongers, EMHF, Smeets, DFCM, Kuijpers-Jagtman, AM, Hamel, BCJ
• Format: Journal Article
• Language: English
• Published: Oxford, UK Munksgaard International Publishers 01.09.2003; Blackwell
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - epidemiology; Abnormalities, Multiple - genetics; Biological and medical sciences; Chromosome Deletion; Chromosomes, Human, Pair 22 - genetics; Chromosomes, Human, Pair 22 - ultrastructure; cleft palate; Cleft Palate - genetics; deletion 22q11; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Female; Genetic Testing - statistics & numerical data; Humans; In Situ Hybridization, Fluorescence; Incidence; Infant; Infant, Newborn; Male; Medical sciences; Neonatal Screening - statistics & numerical data; Netherlands - epidemiology; Non tumoral diseases; Otorhinolaryngology. Stomatology; Prevalence; screening; Syndrome; Unnecessary Procedures; velo-cardio-facial syndrome; velopharyngeal insufficiency; Human; deletion 22q11; screening; Stomatology; Long arm; Pathogenesis; Chromosome G22; Velocardiofacial syndrome; cleft palate; Congenital cleft; velo-cardio-facial syndrome; Congenital disease; Genetic determinism; Incidence; Genetic counseling; Gene; Malformation; Oral cavity disease; Palate; Diagnosis; Mutation; Complex syndrome; Bibliographic review; velopharyngeal insufficiency
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1034/j.1399-0004.2003.00134.x

The velo–cardio–facial syndrome (VCFS), caused by a submicroscopic deletion of chromosome 22q11, is the most common syndrome that has palatal anomalies as a major feature. A possible strategy for early detection of VCFS is routine screening for 22q11 deletions in all infants with cleft palate (CP). The purpose of this study was to evaluate whether this strategy is preferable to testing on clinical suspicion. At the Nijmegen Cleft Palate Craniofacial Center, 58 new patients with overt CP were routinely tested, using fluorescence in situ hybridization (FISH), for a 22q11 deletion. One deletion was identified in a newborn girl with an overt CP who was clinically not suspected of having VCFS. Based on this study (n = 45) and the literature (n = 54), the prevalence of 22q11 deletions among children with CP, but without any other symptoms of VCFS, is estimated to be one in 99. We take the view that this figure is rather low and that early discovery will rarely have significant clinical or genetic consequences. Because CP patients remain under medical attention, almost all of the infants with isolated CP and VCFS will be recognized as having the syndrome at a later age when additional features have developed. Therefore, we conclude that routine FISH testing for 22q11 deletions in infants with overt CP is not indicated, provided clinical follow‐up is guaranteed.