Very Rare Defects: What Can We Learn?
Very Rare Defects: What Can We Learn?
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DOI：
10.1002/ajmg.c.30315
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发表时间：
2011-11-15
影响因子：
3.1
通讯作者：
Mastroiacovo, Pierpaolo
中科院分区：
文献类型：
--
作者：
Castilla, Eduardo E.;Mastroiacovo, Pierpaolo
国际出生缺陷监测和研究信息中心进行了一项关于非常罕见缺陷的研究，以检验其人口监测方法并增加对其流行病学的了解。选择无心畸形（AC）、无肢畸形（AM）、膀胱外翻（BE）、泄殖腔外翻（CE）、连体双胞胎（CT）、独眼畸形（CY）、“真”光腹畸形（PH）和子宫畸形（SI） 8种vrd，除BE为1/48,000外，其余均为1/100,000。这项调查的材料来自于2500万例妊娠结果，由22个信息交换所成员项目提供。研究方案提供了一个工作定义，表型特征总结，以及每个vrd的ICD-9和ICD-10代码列表。得到的经验教训包括：(1)证实了AM和SI的风险降低与母亲年龄的增加有关，BE的风险增加与双胞胎SI的频率增加有关。(2)形态相似的缺陷表现出不同的流行病学特征，即AM和PH， BE和CE。(3)除了SI和CT外，不同监测项目中大多数vrd总患病率的异质性归因于操作原因，其中美洲印第安人种族似乎与较高的患病率相关。(4)逐字描述是必要的，必须存储在电子文件中。除了代码。(5)畸形学家或临床遗传学家是监测项目协调团队的重要组成部分。(6) ICD编码体系不完善。(7)监测项目应成为孕期暴露于危险因素的宝贵信息来源。(C) 2011 Wiley期刊公司
The International Clearinghouse for Birth Defects Surveillance and Research conducted a study on very rare defects (VRDs) to test methodologies in their population surveillance and to increase the knowledge of their epidemiology. Eight VRDs: acardia (AC), amelia (AM), bladder exstrophy (BE), cloaca exstrophy (CE), conjoined twins (CT), cyclopia (CY), "true" phocomelia (PH), and sirenomelia (SI) were selected, all of whom showed prevalences in the order of 1/100,000 births, except for BE: 1/48,000 births. Materials in this investigation from 25 million pregnancy outcomes, were provided by 22 Clearinghouse-member programs. The study protocol provided a working definition, a summary of the phenotypic characteristic, and a list of ICD-9 and ICD-10 codes for each VRDs. Learned lessons include: (1) The suspected associations of decreasing risk with advancing maternal age in AM and SI, and increasing risk in BE, and increasing frequency of twins in SI, were confirmed. (2) Morphologically similar defects showed dissimilar epidemiological characteristics, namely, AM and PH, and BE and CE. (3) Heterogeneity in total prevalences for most VRDs among different surveillance programs were attributed to operational reasons, except for SI and CT in which Amerindian ethnicity seems to be associated with higher prevalence. (4) Verbatim description is essential and must be stored in electronic files. In addition to codes. (5) Dysmorphologists or clinical geneticists are an essential part of the coordinating team of the surveillance program. (6) ICD coding system is insufficient. (7) Surveillance programs should be a valuable source of information on exposures to risk factors during pregnancy. (C) 2011 Wiley Periodicals, Inc.