VACTERL ASSOCIATION, EPIDEMIOLOGIC DEFINITION AND DELINEATION

This study departed from a preconceived definition of VACTERL, includi ng more than one of these six anomalies in the same infant: V (vertebr al anomalies), A (anal atresia), C (congenital heart disease), TE (tra cheoesophageal fistula or esophageal atresia), R (reno-urinary anomali es), and L (radial limb defect). Under this definition, 524 infants we re ascertained by ECLAMC from almost 3,000,000 births examined from 19 67 through 1990. Observed association rates among VACTERL components a s well as between VACTERL and other defects were compared against rand omly expected values obtained from 10,084 multiply malformed infants ( casuistic method) from the same birth sample. Conclusions were: 1) Car diac defects are not a part of VACTERL. 2) Single umbilical artery, am biguous genitalia, abdominal wall defects, diaphragmatic hernia, and a nomalies that are secondary to VACTERL components (intestinal and resp iratory anomalies, and oligohydramnios sequence defects) are frequent enough to be considered an ''extension'' of VACTERL, and cardiac defec ts should be included in this category, 3) Neural tube defects are neg atively associated with VACTERL which could not be explained by select ion bias or any other operational artifact. High embryonic lethality o r mutually exclusive pathogenetic mechanisms could be suitable explana tions, 4) Results were not clear enough to determine whether VACTERL s hould be defined by at least two or three component defects. (C) 1996 Wiley-Liss, Inc.