First trimester expression of anorectal malformation: Case report and review of the literature

Gad Liberty, Ron Bardin, Yinon Gilboa, Ana Tover, Reuven Mashiach, Eyal Mazaki, Ori Shen

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

A 26-years-old woman, underwent an ultrasound examination at 13.4 weeks. A cystic structure was identified in the right lower abdomen. Gradually, the cystic mass was replaced by echogenic content and eventually attained the appearance of hyperechoic bowel. At 21.2 weeks, the anal sphincter could not be demonstrated which was consistent with the diagnosis of isolated anal agenesis. Amniocentesis revealed 46XY karyotype with normal comparative genomic hybridization. After termination of pregnancy at 23 weeks, an autopsy revealed an isolated high type anorectal malformation (ARM) without fistula. We reviewed all 14 cases reported in the literature of first trimester sonographic expression of ARM.

Original languageEnglish
Pages (from-to)591-597
Number of pages7
JournalJournal of Clinical Ultrasound
Volume46
Issue number9
DOIs
StatePublished - 1 Nov 2018
Externally publishedYes

Keywords

  • anal sphincter
  • anorectal malformation
  • cystic mass
  • echogenic bowel
  • first trimester

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