Medical ProgressAn 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
References (64)
- et al.
The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects
J Pediatr
(1973) - et al.
Extending the scope of the VATER association: definition of the VATER syndrome
J Pediatr
(1974) - et al.
Long-term outcomes of adults with features of VACTERL association
Eur J Med Genet
(2011) - et al.
Associated malformations in patients with esophageal atresia
Eur J Med Genet
(2009) Posterior spinal fusion in scoliosis: indications, technique, and results
Orthop Clin North Am
(1979)- et al.
Surgical experience in infants with the VATER association
J Pediatr Surg
(1980) - et al.
Surgical problems in patients with VATER-associated anomalies
J Pediatr Surg
(1984) - et al.
The tethered spinal cord in patients with anorectal malformations
J Pediatr Surg
(1997) - et al.
Is surgery necessary for asymptomatic tethered cord in anorectal malformation patients?
J Pediatr Surg
(2004) - et al.
Imaging of congenital spine and spinal cord malformations
Neuroimaging Clin N Am
(2011)
Cloacal malformations: lessons learned from 490 cases
Semin Pediatr Surg
The effect of a right-sided aortic arch on outcome in children with esophageal atresia and tracheoesophageal fistula
J Pediatr Surg
Electrophysiologic surgery in patients with congenital heart disease
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu
The diagnosis and treatment of H-type tracheoesophageal fistula
J Pediatr Surg
A single-center experience with kidney transplantation in the verteberal, anal, cardiac, tracheoesophageal, renal, and limb birth detects (VACTERL) association
Transplant Proc
A renal protocol for all ages and all indications: mercapto-acetyl-triglycine (MAG3) with simultaneous injection of furosemide (MAG3-F0): a 17-year experience
Semin Nucl Med
Infant craniospinal ultrasonography: beyond hemorrhage and hydrocephalus
Semin Ultrasound CT MR
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
Am J Hum Genet
A population study of the VACTERL association: evidence for its etiologic heterogeneity
Pediatrics
VACTERL association, epidemiologic definition and delineation
Am J Med Genet
VATER non-random association of congenital malformations: study based on data from four malformation registers
Am J Med Genet
An aetiological study of the VACTERL-association
Eur J Pediatr
VACTERL/VATER Association
Orphanet J Rare Dis
Clinical geneticists' views of VACTERL/VATER association
Am J Med Genet A
VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature
Pediatr Surg Int
Analysis of component findings in 79 patients diagnosed with VACTERL association
Am J Med Genet A
Clinical characteristics of neonates with VACTERL association
Pediatr Int
Posterior vertebral column resection for VATER/VACTERL associated spinal deformity: a case report
HSS J
Prevalence of tethered spinal cord in infants with VACTERL
J Neurosurg Pediatr
Ultrasonography reveals a high prevalence of lower spinal dysraphism in children with urogenital anomalies
Acta Anaesthesiol Scand
Low-lying spinal cord and tethered cord syndrome in children with anorectal malformations
Singapore Med J
Tethered spinal cord syndrome–the importance of time for outcomes
Eur J Pediatr Surg
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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.