Prieto L, Martínez-Frías M L
Department of Biostatistics, Faculty of Medicine, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1996 Mar 1;62(1):61-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<61::AID-AJMG13>3.0.CO;2-T.
Most of the methods proposed to analyze patterns of congenital anomaly clusters have been criticized because large observed/expected (O/E) ratios are obtained for many defect combinations, suggesting that the association of congenital defects is a generalized and nonspecific tendency. To avoid this problem, two methods have been proposed: (1) the analysis of the association of two defects in the subgroup of infants with only multiple congenital anomaly (MCA) patterns, and (2) a method for adjusting the O/E ratio for the nonspecific tendency of defects to cluster among themselves. However, neither of these methods analyzes the association of only two particular defects in a child who apparently has no other anomalies apart from the two that are being analyzed. Here we present a method that analyzes the association of two particular defects, when they are the only defects observed in the child. The method is tested on the Spanish Collaborative Study of Congenital Malformations (ECEMC) data base. The proposed method also controls for the tendency of nonspecific defect clustering.
大多数用于分析先天性异常聚集模式的方法都受到了批评,因为对于许多缺陷组合都获得了较大的观察值/预期值(O/E)比率,这表明先天性缺陷之间的关联是一种普遍且非特异性的趋势。为避免此问题,人们提出了两种方法:(1)在仅具有多种先天性异常(MCA)模式的婴儿亚组中分析两种缺陷之间的关联,以及(2)一种针对缺陷自身聚集的非特异性趋势调整O/E比率的方法。然而,这两种方法都没有分析在一个除了正在分析的两种缺陷外明显没有其他异常的儿童中仅两种特定缺陷之间的关联。在此,我们提出一种方法,当这两种特定缺陷是在儿童中观察到的仅有的缺陷时,分析它们之间的关联。该方法在西班牙先天性畸形协作研究(ECEMC)数据库上进行了测试。所提出的方法还控制了非特异性缺陷聚集的趋势。