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Clinics and Practice
  • Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
  • Case Report
  • Open Access

25 January 2013

First Trimester Diagnosis of VACTERL Association

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1
Department of Obstetrics and Gynecology, São Teotónio Hospital, Viseu, Portugal
2
Laboratory of Anatomic Pathology, CGC Genetics, Porto, Portugal
*
Author to whom correspondence should be addressed.

Abstract

VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimester of pregnancy. The ensuing fetal study revealed the presence of vertebral, anorectal, renal and limb anomalies and therefore was considered a case of VACTERL association. This complex association generally entails a poor prognosis. Its early detection allows discussion of management options, including medical termination of pregnancy.

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