Estudio Colaborativo Latino Americano de Malformaciones Congénitas - Laboratorio de Epidemiologia de Malformações Congènitas, Instituto Oswaldo Cruz Rio de Janeiro, RJ, Brazil.
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):252-61. doi: 10.1002/ajmg.c.30315. Epub 2011 Oct 14.
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.
国际出生缺陷监测与研究信息交换中心开展了一项针对罕见缺陷（VRD）的研究，旨在检验其人群监测方法，并增进对其流行病学的认识。选择了 8 种 VRD：无心畸形（AC）、无肢畸形（AM）、膀胱外翻（BE）、泄殖腔外翻（CE）、联体双胎（CT）、独眼畸形（CY）、“真性”海豹肢畸形（PH）和美人鱼综合征（SI），除 BE（每 48,000 例活产 1 例）外，其余均为每 100,000 例活产 1 例。本研究中的资料来源于 22 个信息交换中心成员计划的 2500 万例妊娠结局。研究方案提供了每个 VRD 的工作定义、表型特征摘要以及 ICD-9 和 ICD-10 编码列表。获得的经验教训包括：（1）证实了 AM 和 SI 中母亲年龄增加与风险降低、BE 中风险增加以及 SI 中双胞胎频率增加有关的可疑关联。（2）形态相似的缺陷表现出不同的流行病学特征，即 AM 和 PH，以及 BE 和 CE。（3）除了 SI 和 CT 外，大多数 VRD 在不同监测计划中的总患病率存在异质性，这归因于操作原因，而 SI 和 CT 中美洲印第安人种族似乎与更高的患病率有关。（4）逐字描述是必不可少的，必须与代码一起存储在电子文件中。（5）在监测计划的协调团队中，畸形学家或临床遗传学家是必不可少的一部分。（6）ICD 编码系统不足。（7）监测计划应该成为怀孕期间接触危险因素信息的宝贵来源。
