A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
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DOI：
10.1542/peds.112.1.101
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发表时间：
2003-07-01
期刊：
影响因子：
8
通讯作者：
Campbell, RM
中科院分区：
文献类型：
--
作者：
Botto, LD;May, K;Campbell, RM
目标。尽管一些研究描述了 22q11.2 缺失，但基于人群的数据很少。需要这些数据来正确评估缺失在人群中的影响、分布和临床表现。我们的目标是评估基于人群的 22q11.2 缺失出生率及其相关表型及其对心脏缺陷发生的影响。方法。我们评估了 1994 年至 1999 年居住在亚特兰大大都市的女性所生婴儿的数据。我们匹配了亚特兰大大都会先天性缺陷计划（一个基于人口的登记处，具有主动病例查明功能）、亚特兰大儿童保健中心的西布利心脏中心和埃默里大学医学遗传学部门的记录。我们使用出生证明数据作为比率的分母。结果。我们在 255 849 名新生儿中发现了 43 名经实验室确认存在 22q11.2 缺失的儿童。总体患病率为 5950 名新生儿中 1 例（95% 置信区间：4417 例中 1 例到 8224 例新生儿中 1 例）。在白人、黑人和亚洲人中，患病率为 6000 分之一至 6500 分之一，在西班牙裔中，患病率为 3800 分之一。大多数受影响的儿童（81%）有心脏缺陷，许多（三分之一）有严重的心外缺陷（腭腭异常除外），包括中枢神经系统异常。总体而言，在整个出生队列中，每 68 例重大心脏缺陷病例中至少有 1 例由该缺失导致，特别是每 2 例 B 型主动脉弓中断病例中就有 1 例，每 5 例动脉干干病例中就有 1 例，每 8 例法洛四联症病例中就有 1 例。结论。 22q11.2 缺失在该出生人群中很常见。临床表型包括广泛且可变的主要心脏和心外异常。根据这些基于人口的数据，可以估计美国每年至少出生 700 名受影响的婴儿。诸如此类的基于人群的估计对于医疗专业人员和政策制定者在规划 22q11.2 缺失患者的最佳护理方面应该很有用。
Objectives. Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects.Methods. We evaluated data on infants who were born from 1994 through 1999 to women who resided in metropolitan Atlanta. We matched records from the Metropolitan Atlanta Congenital Defects Program (a population-based registry with active case ascertainment), the Sibley Heart Center at Children's Healthcare of Atlanta, and the Division of Medical Genetics at Emory University. We used birth certificate data for the denominators of the rates.Results. We identified 43 children with laboratory-confirmed 22q11.2 deletion among 255 849 births. The overall prevalence was 1 in 5950 births (95% confidence interval: 1 in 4417 to 1 in 8224 births). The prevalence was between 1 in 6000 and 1 in 6500 among whites, blacks, and Asians and 1 in 3800 among Hispanics. Most affected children (81%) had a heart defect, and many (1 in 3) had major extracardiac defects (other than velopalatal anomalies), including anomalies of the central nervous system. Overall, the deletion contributed to at least 1 of every 68 cases of major heart defects identified in the total birth cohort and, in particular, to 1 of every 2 cases diagnosed with interrupted aortic arch type B, 1 of every 5 with truncus arteriosus, and 1 of every 8 with tetralogy of Fallot.Conclusions. The 22q11.2 deletion was common in this birth population. The clinical phenotype included a wide and variable spectrum of major cardiac and extracardiac anomalies. From these population-based data, one can estimate that at least 700 affected infants are born annually in the United States. Population-based estimates such as these should be useful to medical professionals and policy makers in planning for the optimal care of people with the 22q11.2 deletion.