Assessment of Chromosome 22q11.2 Deletion in Patients with Isolated Cleft Palate: A Systematic Review of Prospective Studies.

Background: The prevalence of 22q11.2 deletion in patients presenting with isolated cleft palate has not been systematically assessed. Objective: To assess the evidence in the literature for the prevalence of 22q11.2 deletion in patients who were presenting with isolated cleft palate. Material and Method: A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion AND cleft palate. Results: Of the six prospective studies reported, 328 patients with isolated cleft palate had been screened with FISH (Fluorescence In Situ Hybridization) test for 22q11.2 deletion. Among the 328 patients, there was one (0.3%) patient with positive FISH test for 22q11.2 deletion. This patient was clinically assessed and did not have an associated malformation or clinically recognized syndrome. Conclusion: The prevalence of 22q11.2 deletion among patients with isolated cleft palate is rather low. Of more than 400 genetic disorders involving occurrences of isolated cleft palate, FISH testing for 22q11.2 deletion in a patient with isolated cleft palate is recommended on clinical suspicion of additional clinical presentations of 22q11.2 deletion syndrome such as conotruncal congenital heart diseases, dysmorphic facies, velopharyngeal insufficiencies, immune deficiencies, hypoparathyroidisms, and neuropsychiatric disorders.

Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: A Systematic Review of Population-Based Studies.

Background: A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking. Objective: To assess the evidence in the literature for the birth prevalence of chromosome 22q11.2 deletion syndrome. Material and Method: A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion and prevalence. Results: Of the six studies reported, there were 156 patients with 22q11.2 deletion syndrome found in total study populations of 1,111,336 live births. According to countries, the birth prevalence of this deletion syndrome (95% confidence interval) from United States, Belgium, Sweden, United Kingdom, France, and Singapore were 1.68 (1.22-2.26), 1.56 (1.33-1.72), 1.36 (0.91-2.08), 1.30 (0.45-2.15), 1.03 (0.53-2.23), and 1.02 per 10,000 live births, respectively. Estimates of minimum prevalence rates on the basis of the presence of this syndrome in cohorts of patients with cardiovascular malformations were from one in 4,000 to one in 7,092 live births. Conclusion: This systematic review indicates that the 22q11.2 deletion syndrome is rather common. The findings can help physicians, health care planners and other health professionals to plan and manage better care of these patients.

Prevalence of Congenital Heart Diseases in Patients with Orofacial Clefts: A Systematic Review.

BACKGROUND: The reports on prevalence rates of congenital heart diseases (CHDs) in patients with orofacial clefts (OFCs) have varied widely. OBJECTIVE: To systematically review the prevalence rates of CHDs in patients with OFCs. MATERIAL AND METHOD: A computer search was conducted through the PubMed from 1950 to June 2015 using key words or search terms of congenital heart diseases, orofacial clefts, cleft lip/palate and prevalence. RESULTS: The search resulted in nine studies with 598 CHDs cases identified in 5,707 patients with OFCs. The prevalence of CHDs in patients with OFCs ranged from 3.9% to 23.9%. The five prospective studies had prevalence rates of 12.0% (95% confidence interval [CI]: 10.9 to 13.2) whilst the four retrospective studies had prevalence rates of 8.6% (95% CI: 7.5 to 9.8). Concerning the prospective studies, the newborn study had a higher prevalence than those of other childhood studies [23.9% vs. 11.5% (95% CI: 10.4 to 12.7)]. The newborn study with the use of echocardiography had a higher prevalence than those without using echocardiography (23.9% vs. 12.8%). Atrial septal defect was the most frequent CHD found. CONCLUSION: CHD is commonly found in a patient with OFC. Echocardiography should be used to assess CHD in patients with OFCs.

Global Birth Prevalence of Orofacial Clefts: A Systematic Review.

BACKGROUND: A birth prevalence of orofacial clefts (OFCs) worldwide has been documented to vary. However a systematic assessment is lacking. OBJECTIVE: To assess the evidence in the literature for the birth prevalence of OFCs. MATERIAL AND METHOD: A systematic literature search was conducted using electronic databases through PubMed between 1950 and June 2015 using key words and search terms of cleft lip palate OR orofacial cleft AND prevalence. RESULTS: There were 45,193 patients with OFCs found in a study population of 30,665,615 live births. According to continents, the OFC birth prevalence (95% confidence interval)from Asia, North America, Europe, Oceania, South America, and Africa were 1.57 (1.54-1.60), 1.56 (1.53-1.59), 1.55 (1.52-1.58), 1.33 (1.30-1.36), 0.99 (0.96-1.02), and 0.57 (0.54-0.60) per 1,000 live births, respectively. The American Indians had the highest prevalence rates of 2.62 per 1,000 live births, followed by the Japanese, the Chinese, and the Whites of 1.73, 1.56, and 1.55 per 1,000 live births, respectively. The Blacks had the lowest rate of 0.58 per 1,000 live births. CONCLUSION: Observed differences may also be of ethnic origin, genetic, environmental factors, and methods of ascertainment. Further investigations are needed to manage this global health problem.