Spectrum of Congenital Anomalies Among VACTERL Cases: A EUROCAT Population-Based Study

Romy van De Putte (1) , Iris A. L. M. Van Rooij (1) , Carlo L. M. Marcelis (1) , Michel Guo (1) , Han G. Brunner (1) , Marie-Claude Addor , Clara Cavero-Carbonell , Carlos M. Dias , Elizabeth S. Draper , Larraitz Etxebarriarteun , Miriam Gatt , Martin Haeusler , Babak Khoshnood (2) , Kari Klungsoyr , Jenny J. Kurinczuk , Monica Lanzoni , Anna Latos-Bielenska , Karen Luyt , Mary T. O’mahony , Nicola Miller , Carmel Mullaney , Vera Nelen , Amanda J. Neville , Isabelle Perthus (3) , Anna Pierini , Hanitra Randrianaivo (4) , Judith Rankin , Anke Rissmann , Florence Rouget (5) , Bruno Schaub (6) , David Tucker , Diana Wellesley , Awi Wiesel , Natalya Zymak-Zakutnia , Maria Loane , Ingeborg Barisic , Hermien E. K. De Walle (7) , Nel Roeleveld (1) , Jorieke e.H. Bergman (7)

1 Radboud University [Nijmegen]
2 CRESS - U1153 - Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique
3 CHU Clermont-Ferrand
4 CHU La Réunion - Centre Hospitalier Universitaire de La Réunion
5 Irset - Institut de recherche en santé, environnement et travail
6 CHU de la Martinique [Fort de France]
7 University of Groningen [Groningen]

Background: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes.Methods: A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL.Results: In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies.Conclusion: The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.

Domains: Life Sciences [q-bio]

Romy van De Putte, Iris A. L. M. Van Rooij, Carlo L. M. Marcelis, Michel Guo, Han G. Brunner, et al.. Spectrum of Congenital Anomalies Among VACTERL Cases: A EUROCAT Population-Based Study. Pediatric Research, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩. ⟨hal-02565227⟩