Elsevier

The Journal of Pediatrics

Volume 164, Issue 3, March 2014, Pages 451-457.e1
The Journal of Pediatrics

Medical Progress
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

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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

Patient Criteria: To Whom Does the Suggested Diagnostic Approach Apply?

Individuals with any 2 component features of VACTERL association or either TEF/EA or anorectal malformations (ARMs) are frequently found to have additional VACTERL-type anomalies.10, 11, 12 These additional anomalies may be difficult to detect without a high index of suspicion and/or specific testing. We suggest that our approach be applied to all individuals with at least 2 component features of VACTERL association, and all individuals in whom TEF/EA or ARM is diagnosed. Following the

Discussion

The relative rarity and wide spectrum of VACTERL association challenges the ability to have a “gold standard” case definition. We, nonetheless, expect that this algorithm can be beneficial to a diverse group of medical practitioners. The suggested work-up may involve considerable expense, but applying this algorithm early in life may ultimately decrease morbidity as well as costs to the health care system. Further research is necessary to determine the optimal cost-benefit ratio.

Though the

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    Supported in part by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. The views expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Department of the Army, nor the US Government. The authors declare no conflicts of interest.

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