Ultrasound relevance in prental diagnosis of VACTERL association - two clinical cases

Authors

  • Joana Felix Department of Gynecology and Obstetrics, Hospital Pedro Hispano
  • Joana Moreira Barros Department of Gynecology and Obstetrics, Hospital Pedro Hispano
  • Ana Rita Soares Department of Medical Genetics, Centro Hospitalar Universitário do Porto
  • Fatima Soares Department of Gynecology and Obstetrics, Hospital Pedro Hispano
  • Rosete Nogueira Life and Health Sciences Research Institute (ICVS), Universidade do Minho; CGC Genetics, Laboratory of Pathology
  • Pedro Tiago Silva Department of Gynecology and Obstetrics, Hospital Pedro Hispano

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v29.i1.14036

Keywords:

fetal malformations, fetal ultrasound, prenatal diagnosis, VACTERL association

Abstract

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.

References

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Published

2020-03-24

How to Cite

Felix, J., Moreira Barros, J., Soares, A. R., Soares, F., Nogueira, R., & Silva, P. T. (2020). Ultrasound relevance in prental diagnosis of VACTERL association - two clinical cases . NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 29(1), 51–55. https://doi.org/10.25753/BirthGrowthMJ.v29.i1.14036

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Case Reports

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