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首页> 外文期刊>American journal of medical genetics, Part C. Seminars in medical genetics >Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature
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Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

机译：阿米莉亚：来自国际出生缺陷监视和研究资料交换所的大型数据集的多中心描述流行病学研究以及文献综述

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This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly.
机译：这项研究使用迄今为止已知的最大系列病例，描述了先天性痴呆的流行病学（无肢体）。 1968年至2006年，根据非洲计划，来自非洲以外所有各大洲的国际出生缺陷监视和研究资料交换所的所有成员均由20个先天异常监视程序收集了数据。对所报告病例的临床信息进行了全面审查，以识别严格符合阿梅里亚定义的患者。羊膜带或肢体壁复合体者除外。主要的流行病学分析集中于孤立的病例和具有多个先天性异常（MCA）的病例。在23,110,591例活产，死产和（对于某些项目而言）因胎儿异常而选择性地终止妊娠中，总共确定了326例阿梅里亚病例。总体总患病率为每100,000例1.41（95％置信区间：1.26-1.57）。只有中国北京和墨西哥RYVEMCE的总患病率显着高于该总患病率。某些注册不足可能会影响某些程序中的总流行率。活产病例占总数的54.6％。在单体病例中（占非综合征性阿梅利亚病例的65.2％），双方均受累，上肢（53.9％）的患病率稍高。最有趣的发现之一是在20岁以下母亲的后代中患阿米莉亚病的比例更高。 69％的病例患有MCA或综合征。与阿梅利亚症相关的最常见缺陷是其他类型的肌肉骨骼缺陷，肠道，某些肾脏和生殖器缺陷，口腔裂口，心脏隔垫缺陷和无脑。

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