Panamonta Vipawee, Wichajarn Khunton, Chaikitpinyo Arnkisa, Panamonta Manat, Pradubwong Suteera, Chowchuen Bowornsilp
J Med Assoc Thai. 2016 Aug;99 Suppl 5:S187-93.
A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking.
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 search terms of 22q11.2 deletion OR 22q11 deletion and prevalence.
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 physicians, health care planners and other health professionals to plan and manage better care of these patients.
基于人群的报告显示，22q11.2缺失综合征的出生患病率存在差异，但缺乏系统评估。
评估文献中关于22q11.2缺失综合征出生患病率的证据。
于1992年至2016年6月期间通过PubMed进行系统文献检索，检索词为22q11.2缺失或22q11缺失以及患病率。
在报告的六项研究中，在总计1,111,336例活产的研究人群中，共发现156例22q11.2缺失综合征患者。按国家划分，美国、比利时、瑞典、英国、法国和新加坡该缺失综合征的出生患病率（95%置信区间）分别为每10,000例活产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）和1.02例。基于心血管畸形患者队列中该综合征的存在情况，最低患病率估计为每4,000至7,092例活产中有1例。
本系统评价表明，22q11.2缺失综合征相当常见。这些发现有助于医生、医疗保健规划者和其他卫生专业人员更好地规划和管理对这些患者的护理。
