An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association

Abstract

VATER association was first described in the early 1970s as the non-random co-occurrence of congenital malformations including: Vertebral defects, Anal atresia, Tracheo-Esophageal fistula (TEF) with or without esophageal atresia (EA), and Radial and Renal dysplasia.1 Following initial reports, it was suggested that “V” should include Vascular anomalies (including single umbilical artery). Cardiac malformations (“C”) and Limb (“L”) anomalies other than radial anomalies were also added, such that the term “VACTERL” became the most common descriptor, despite variable evidence for the inclusion of features such as cardiac or renal anomalies.2–6 The presence of VACTERL association, which usually requires at least 3 component features and the absence of evidence for an overlapping condition, is estimated to occur in approximately 1/10,000–1/40,000 live births.7, 8 Just as there are challenges in defining the condition, there is no standard approach for the initial diagnostic work-up of a neonate with identified or suspected VACTERL association. This can be problematic: missed manifestations may obfuscate the etiological work-up8; delay medical interventions, potentially contributing to higher morbidity and mortality9; result in less informed and effective counseling. To attempt to address these issues, we assembled a multi-disciplinary group of clinicians and researchers whose expertise focuses on VACTERL association and/or its individual component features. Following review of the literature, and based upon our collective experience, we offer suggestions for the evaluation of individuals identified or suspected to have VACTERL association. Literature Search We conducted a PubMed-based literature search for case reports and collections of patients identified or suspected of having VACTERL association and/or associated component features. Search terms included the following: Anal atresia; Anorectal malformations; Cardiac anomalies; Cardiac malformations; Cardiovascular anomalies; Cardiovascular malformations; Esophageal atresia; Genitourinary anomalies; Genitourinary malformations; Imperforate anus; Limb anomalies; Limb malformations; Radial anomalies; Radial dysplasia; Renal anomalies; Renal malformations; TEF; Tracheo-esophageal fistula; VACTERL; VATER; Vertebral anomalies; Vertebral malformations. Only articles describing human patients were considered, and articles were excluded if they did not pertain to component features specifically seen in VACTERL association.