Ultrasound relevance in prenatal diagnosis of VACTERL association – Two clinical cases

Felix, Joana; Moreira Barros, Joana; Soares, Ana Rita; Soares, Fatima; Nogueira, Rosete; Silva, Pedro Tiago

http://hdl.handle.net/10400.16/2546

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Authors

Felix, Joana

Moreira Barros, Joana

Abstract(s)

VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL. Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound. Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.

Keywords

fetal malformations VACTERL association fetal ultrasound prenatal diagnosis VACTERL association

URI

http://hdl.handle.net/10400.16/2546

Citation

Felix J, Moreira-Barros J, Soares AR, Soares F, Nogueira R, Silva PT, Nascer e Crescer - Birth and Growth Medical Journal 2020;29(1): 51-55. doi:10.25753/BirthGrowthMJ.v29.i1.14036