A Systematic Review of Clinical and Genetic Approaches to  <scp>VACTERL</scp> Association

Definitions of VACTERL and diagnostic approaches vary widely. Limitations of the evidence base include study heterogeneity, reliance on retrospective designs, outdated technologies, and lack of meta-analyses. Prospective studies are needed to develop protocols. In the interim, imaging, complete blood count and film, chromosomal microarray, chromosomal breakage studies, and exome or genome sequencing should be considered for patients with two or more VACTERL features, or selected individuals with an isolated feature. This recommendation is based on the implications of a molecular diagnosis for management. Key diagnostic elements and differential diagnoses are summarised.