Prenatal diagnosis of the VACTERL association using routine ultrasound examination

Debost‐Legrand, Anne; Goumy, Carole; Laurichesse‐Delmas, H.; Déchelotte, P.; Perthus, Isabelle; Francannet, Christine; Lémery, D.; Gallot, Denis

doi:10.1002/bdra.23346

Cited by 15 publications

(4 citation statements)

References 43 publications

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“…Prenatal diagnosis of VACTERL by ultrasound is possible but challenging [32, 33]. Some VACTERL anomalies, including TE fistula without EA and most anorectal malformations, are less frequently detected prior to delivery, and the postnatal discovery of these additional, unexpected, and often morbid anomalies can cause significant distress to families [34].…”

Section: Discussionmentioning

confidence: 99%

A Novel VACTERL Assessment Tool to Facilitate Counseling for Expectant Families

Riley¹,

Schomberg²,

Mantha³

et al. 2023

Fetal Diagn Ther

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Introduction: VACTERL is defined as 3 or more of the following congenital defects: vertebral, anorectal, cardiac, tracheoesophageal (TE), renal, and limb. The purpose of this study was to create an easy-to-use assessment tool to help providers counsel expecting families regarding the likelihood of additional anomalies and postnatal outcomes. Methods: Employing the Kids’ Inpatient Database from 2003–2016, neonates (<29 days old) with VACTERL were identified using ICD-9-CM and ICD-10-CM codes. For each unique combination of VACTERL, multivariable logistic regression was used to estimate inpatient mortality, and Poisson regression was used to estimate length-of-stay during the initial hospitalization. Results: The assessment tool used in this study is available at <ext-link ext-link-type="uri" xlink:href="https://choc-trauma.shinyapps.io/VACTERL" xmlns:xlink="http://www.w3.org/1999/xlink">https://choc-trauma.shinyapps.io/VACTERL</ext-link>. 1,886 of 11,813,782 (0.016%) neonates presented with VACTERL. 32% weighed <1,750 g, and 239 (12.7%) died prior to discharge. Associated with mortality were limb anomaly (1.8 [1.01–3.22], p < 0.05), prematurity (1.99 [1.14–3.47], p < 0.02), and weight <1,750 g (2.19 [1.25–3.82], p < 0.01). Median length-of-stay was 14 days (IQR: 7-32). Associated with increased length-of-stay were cardiac defect (1.47 [1.37–1.56], p < 0.001), vertebral anomaly (1.1 [1.05–1.14], p < 0.001), TE fistula (1.73 [1.66–1.81], p < 0.001), anorectal malformation (1.12 [1.07–1.16], p < 0.001), and weight <1,750 g (1.65 [1.57–1.73], p < 0.001). Conclusion: This novel assessment tool may help providers counsel families confronting a VACTERL diagnosis.

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Section: Discussionmentioning

confidence: 99%

A Novel VACTERL Assessment Tool to Facilitate Counseling for Expectant Families

Riley¹,

Schomberg²,

Mantha³

et al. 2023

Fetal Diagn Ther

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“…Finalmente, es de importancia mencionar que esta asociación típicamente no tiene compromiso neurocognitivo. (20,21).…”

Section: Discussionunclassified

Asociación VACTERL de presentación inusual: reporte de caso

et al. 2020

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En el contexto de Asociación VACTERL, el diagnóstico prenatal de atresia esofágica concomitante con atresia duodenal es poco común. En el presente artículo se realiza el reporte de un caso con la descripción de los hallazgos ecográficos encontrados a partir semana doce de gestación, con la aparición del signo de doble burbuja intraabdominal compatible con atresia duodenal y una arteria umbilical única; y hacia la semana 31 el hallazgo de imagen anecóica y dilatación esofágica del tercio distal con comunicación con la cámara gástrica en corte longitudinal, representando una atresia esofágica, asociada además a polihidramnios. Desde el momento del nacimiento por examen físico y estudios complementarios, se evidenció además ano imperforado con fístula recto vestibular, arcos costales derechos fusionados y hemivértebras. Por los anteriores hallazgos clínicos y radiológicos, se considera que se trata de una asociación VACTERL; sin embargo, sin alteraciones cardiacas, que es una de las características más frecuentemente encontradas. Se realiza una revisión del estado del arte con respecto a la asociación VACTERL y el diagnóstico prenatal de la atresia esofágica y duodenal.

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“…But only 1.0% of such cases present the full range of anomalies 2 . Ultrasonography and MRI can visualize some of the characteristic fi ndings of this condition prenatally 12 .…”

Section: Discussionmentioning

confidence: 99%