CHARGE Association in newborns: A registry-based study

The CHARGE Association is a nonrandom occurrence of congenital malformation s that has been described in clinical series. Reported patients have been s elected on the basis of certain prior criteria. In this article, we try to identify a congenital malformation pattern corresponding to the CHARGE Asso ciation, using statistical methods and analyzing 5,260 infants with multipl e malformations collected from four large registries of congenital malforma tions. Care was taken to identify a number of confounding characteristics t hat can influence the ascertainment and registration of specific congenital malformations. We have identified a cluster of malformations that generall y agreed with the current clinical definition of the CHARGE Association and have added some further malformations (e.g., facial clefts). We demonstrat e that others (e.g., esophageal atresia) are probably not part of the patte rn. Heart defects (H in the acronym) seems to be less helpful in identifyin g infants with the association. We suggest a method to select infants who p robably represent the CHARGE Association for analyses of possible risk fact ors. (C) 1999 Wiley-Liss, Inc.