Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: a Systematic Review of Population-Based Studies
Panamonta, V.; Wichajarn, K.; Chaikitpinyo, A.; Panamonta, M.; Pradubwong, S.; Chowchuen, B.
Journal of the Medical Association of Thailand 99(Suppl 5): S187-S193
2016
ISSN/ISBN: 0125-2208 PMID: 29906080 Document Number: 11587
A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been To assess the evidence in the literature for the birth prevalence of chromosome 22q11.2 deletion syndrome. A systematic literature search was conducted through PubMed between 1992 and June 2016 using 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. This systematic review indicates that the 22q11.2 deletion syndrome is rather common. The findings can help