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Case report
Prenatal diagnosis of truncus arteriosus with interrupted aortic arch and abnormal limbs due to an umbilical cord amniotic band: rare entities with an unusual association
  1. Albert Guarque-Rus1,2,
  2. Lourdes Martín-González1,
  3. Linda Grace Puerto-Tamayo1 and
  4. Julieta Landeyro3,4
  1. 1Department of Obstetrics and Gynecology, Joan XXIII University Hospital, Tarragona, Spain
  2. 2Pere Virgili Health Research Institute, Reus, Spain
  3. 3Department of Pathology, Joan XXIII University Hospital, Tarragona, Spain
  4. 4Department of Pathology, Pius Hospital de Valls, Valls, Spain
  1. Correspondence to Albert Guarque-Rus; albertguarque{at}gmail.com

Abstract

Truncus arteriosus, interrupted aortic arch and amniotic band syndrome are rare conditions. We report a case of a 38-year-old pregnant woman who was diagnosed on a routine morphological ultrasound scan with a Van Praagh type A4 persistent truncus arteriosus with an aortic arch interruption type B and abnormal limbs (oedematous left hand, hypoplastic fingers on the right hand and right big toe amputation). Elective termination of the pregnancy was carried out and the pathological examination confirmed all the sonographic findings. Furthermore, an amniotic band parallel to the umbilical cord undetected during the ultrasound scans was revealed, and was entangled around the right hand, left wrist and the umbilical cord, causing strangulation. We present the unusual association of these independent pathologies and emphasise the usefulness of fetal autopsy in all cases of pregnancy termination and abnormal ultrasound findings to make the complete diagnosis.

  • obstetrics and gynaecology
  • pregnancy
  • congenital disorders
  • materno-fetal medicine

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Footnotes

  • Twitter @guarque_rus

  • Contributors AG-R, LCP-T and LM-G were responsible of the ultrasound examinations and management of the case. JL did the pathological examination. AG-R was responsible for literature research, writing the manuscript and illustration of figure 6. LCP-T, LM-G and JL revised the manuscript. All authors have read and approved the manuscript, and declare that the manuscript is an original work that has not been submitted to another journal or conference.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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