Martínez-Frías M L, Frías J L, Rodríguez-Pinilla E, Urioste M, Bermejo E, Cereijo A, Gaya F
INSALUD, Hospital Universitario San Carlos, Madrid, Spain.
Am J Med Genet. 1991 Nov 1;41(2):192-5. doi: 10.1002/ajmg.1320410212.
Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), a hospital-based, case-control study and surveillance program, we investigated the potential value of registry systems in the identification of causes of congenital defects when their methodology includes (1) detailed reporting and coding of all anomalies present in each child, whether major or minor, (2) clinical analysis and coding of the global pattern of anomalies present in each infant, and (3) classification of all children studied according to their clinical presentation. These approaches provide great specificity and flexibility in the retrieval and analysis of data. Not only do they permit the study of specific anomalies, but also the analysis of children with MCA patterns, as well as the study of the relationship of specific defects with the rest of the anomalies present in a child. To illustrate this point, we present general data on 15,307 malformed children and more specific information on 153 cases of anal atresia/stenosis identified among the 753,410 live-births surveyed by the ECEMC between April 1976 and September 1989.
利用西班牙先天性畸形协作研究(ECEMC)的数据,一项基于医院的病例对照研究和监测项目,我们调查了登记系统在识别先天性缺陷病因方面的潜在价值,其方法包括:(1)详细报告和编码每个儿童存在的所有异常,无论严重与否;(2)对每个婴儿存在的异常总体模式进行临床分析和编码;(3)根据所有研究儿童的临床表现进行分类。这些方法在数据检索和分析方面具有很高的特异性和灵活性。它们不仅允许研究特定异常,还能分析具有多种先天性异常模式的儿童,以及研究特定缺陷与儿童存在的其他异常之间的关系。为说明这一点,我们展示了15307名畸形儿童的一般数据,以及在1976年4月至1989年9月期间ECEMC调查的753410例活产中确定的153例肛门闭锁/狭窄病例的更具体信息。